Publications (IFGA)

Fynn Zahnow, Chiara Jaeger, Yassmin Mohamed, Gianluca Vogelhuber, Fabian May, Alexandra Maria Ciocan, Arianna Manieri, Stephan Maxeiner, Gabriela Krasteva-Christ, Matthew R.D. Cobain, Lars Podsiadlowski, Jose Luis Crespo-Picazo, Daniel Garcia-Parraga, Mike Althaus: The evolutionary path of the epithelial sodium channel delta-subunit in Cetartiodactyla points to a role in sodium sensing. Preprint, 2024
doi:10.1101/2024.11.18.623996 BibTeX | RIS

Tobias Schulze, Timon Sprave, Carolin Groebe, Jan Krumbach, Magnus Behringer, Kay Hamacher, Gerhard Thiel, Christian Grimm, Oliver Rauh: Proton selective conductance and gating of lysosomal cation channel TMEM175. Preprint, 2024
doi:10.1101/2024.11.01.621492 BibTeX | RIS

Richard Jäger: Genomic Multicopy Loci Targeted by Current Forensic Quantitative PCR Assays. In: Genes, 15(10), 1299, 2024
PDF Download (CC BY 4.0) doi:10.3390/genes15101299 urn:nbn:de:hbz:1044-opus-86210 PMID BibTeX | RIS

Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout: Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. In: Journal of Inherited Metabolic Disease, 47(4), 2024, S. 598-623
PDF Download (CC BY 4.0) doi:10.1002/jimd.12730 PMID urn:nbn:de:hbz:1044-opus-82853 BibTeX | RIS

Yutao Li, Amit Sharma, Michèle J. Hoffmann, Dirk Skowasch, Markus Essler, Hans Weiher, Ingo G. H. Schmidt-Wolf: Discovering single cannabidiol or synergistic antitumor effects of cannabidiol and cytokine-induced killer cells on non-small cell lung cancer cells. In: Frontiers in Immunology, Vol.15, 1268652, 2024
PDF Download (CC BY 4.0) doi:10.3389/fimmu.2024.1268652 urn:nbn:de:hbz:1044-opus-80708 PMID BibTeX | RIS

Peng Chen, Amit Sharma, Hans Weiher, Ingo G. H. Schmidt-Wolf: Biological mechanisms and clinical significance of endoplasmic reticulum oxidoreductase 1 alpha (ERO1α) in human cancer. In: Journal of Experimental & Clinical Cancer Research, Vol.43, 79, 2024
PDF Download (CC BY 4.0) doi:10.1186/s13046-024-02990-4 urn:nbn:de:hbz:1044-opus-79878 PMID BibTeX | RIS

Annika Mozer, Albia Consul, Bernhard Misof, Richard Jäger, Klaus Olek, Jonas J. Astrin: Joint detection of microsatellites and flanking sequences – SNPSTR markers for Athene noctua to fight illegal wildlife trade. In: Forensic Science International: Animals and Environments, Vol.5, 100084, 2024
PDF Download (CC BY-NC-ND 4.0) doi:10.1016/j.fsiae.2024.100084 urn:nbn:de:hbz:1044-opus-77822 BibTeX | RIS

Nicole Schräder, Wan Xia Zhu, Alexander Jaekel, Mo Legelli, Daniel Meyer, Kevin Streckel, Michaela Wirtz, Stefan Lamotte: Application of Chiral Stationary Phases for the Separation of Vitamin A Acetate Isomers. In: Journal of Chromatography A, Vol.1718, 464710, 2024
doi:10.1016/j.chroma.2024.464710 PMID BibTeX | RIS

Vanessa Trindade Bortoluzzi, Rafael Teixeira Ribeiro, Camila Vieira Pinheiro, Ediandra Tissot Castro, Tailine Quevedo Tavares, Guilhian Leipnitz, Jörn Oliver Sass, Roger Frigério Castilho, Alexandre Umpierrez Amaral, Moacir Wajner: N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency. In: Biochemical and Biophysical Research Communications, Vol.684, 149123, 2023
doi:10.1016/j.bbrc.2023.149123 PMID BibTeX | RIS

Vanessa Trindade Bortoluzzi, Rafael Teixeira Ribeiro, Ângela Beatris Zemniaçak, Sâmela de Azevedo Cunha, Jörn Oliver Sass, Roger Frigério Castilho, Alexandre Umpierrez Amaral, Moacir Wajner: Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats: Potential relevance in aminoacylase 1 deficiency. In: Neurochemistry International, Vol.171, 105631, 2023
doi:10.1016/j.neuint.2023.105631 PMID BibTeX | RIS

Gerardo A. Stoppiello, Claudia Coleine, Ralf Moeller, Caterina Ripa, Daniela Billi, Laura Selbmann: Seasonality Is the Main Determinant of Microbial Diversity Associated to Snow/Ice around Concordia Station on the Antarctic Polar Plateau. In: Biology, 12(9), 1193, 2023
PDF Download (CC BY 4.0) doi:10.3390/biology12091193 urn:nbn:de:hbz:1044-opus-75251 PMID BibTeX | RIS

Jana Hinz, Tessema F. Mekonnen, Jonas Bergrath, Savanna Sewell, Yannic Schneck, Michaela Wirtz, Ursula Telgheder: Analysis of nine nitrosamines relevant to occupational safety by ion mobility spectroscopy and preliminary gas chromatographic separation. In: Journal of Chromatography Open, Vol.4, 100102, 2023
PDF Download (CC BY-NC-ND 4.0) doi:10.1016/j.jcoa.2023.100102 urn:nbn:de:hbz:1044-opus-75166 BibTeX | RIS

Claudio Neidhöfer, Derick Lekealem Nkwetta, Bangsi Rose Fuen, Njodzeka Flora Yenban, Nancielle Mbiatong, Gordon Takop Nchanji, Patricia Korir, Nina Wetzig, Martin Sieber, Ralf Thiele, Marijo Parcina, Ute Klarmann-Schulz, Achim Hoerauf, Samuel Wanji, Manuel Ritter: Tropical leg lymphedema caused by podoconiosis is associated with increased colonisation by anaerobic bacteria. In: Scientific Reports, 13(1), 13785, 2023
PDF Download (CC BY 4.0) doi:10.1038/s41598-023-40765-7 PMID urn:nbn:de:hbz:1044-opus-75099 BibTeX | RIS

Alexander Jaekel, Mo Legelli, Michaela Wirtz, Daniel Meyer, Nicole Schräder, Kevin Streckel, Stefan Lamotte: Selectivity optimization in liquid chromatography via stationary phase tuning. In: Journal of Separation Science, 46(20), 2300204, 2023
doi:10.1002/jssc.202300204 PMID BibTeX | RIS

Alexander Perniss, Brett Boonen, Sarah Tonack, Moritz Thiel, Krupali Poharkar, Mohamad Wessam Alnouri, Maryam Keshavarz, Tamara Papadakis, Silke Wiegand, Uwe Pfeil, Katrin Richter, Mike Althaus, Johannes Oberwinkler, Burkhard Schütz, Ulrich Boehm, Stefan Offermanns, Trese Leinders-Zufall, Frank Zufall, Wolfgang Kummer: A succinate/SUCNR1-brush cell defense program in the tracheal epithelium. In: Science Advances, 9(31), eadg8842, 2023
PDF Download (CC BY 4.0) doi:10.1126/sciadv.adg8842 PMID urn:nbn:de:hbz:1044-opus-74794 BibTeX | RIS

Jason W. An, Pallavi Pimpale-Chavan, Deborah L. Stone, Marcia Bandeira, Fatma Dedeoglu, Jeffrey Lo, John Bohnsack, Sofia Rosenzweig, Oskar Schnappauf, Dilan Dissanayake, Linda T. Hiraki, Daniel L. Kastner, Christina Pelajo, Ronald M. Laxer, Ivona Aksentijevich: Case report: Novel variants in RELA associated with familial Behcet's-like disease. In: Frontiers in Immunology, Vol.14, 1127085, 2023
doi:10.3389/fimmu.2023.1127085 PMID BibTeX | RIS

A. Cassaro, C. Pacelli, M. Baqué, A. Maturilli, U. Böttger, A. Fujimori, R. Moeller, J-P P. de Vera, S. Onofri: Spectroscopic investigations of fungal biomarkers after exposure to heavy ion irradiation. In: Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy, Vol.302, 123073, 2023
doi:10.1016/j.saa.2023.123073 PMID BibTeX | RIS

Claudio Neidhöfer, Maria Bagniceva, Nina Wetzig, Martin A. Sieber, Ralf Thiele, Marijo Parčina: Pragmatic Considerations When Extracting DNA for Metagenomics Analyses of Clinical Samples. In: International Journal of Molecular Sciences, 24(14), 11262, 2023
PDF Download (CC BY 4.0) doi:10.3390/ijms241411262 urn:nbn:de:hbz:1044-opus-73988 PMID BibTeX | RIS

Kira Billinger, Charles A. Okai, Manuela Russ, Cornelia Koy, Claudia Röwer, Kwabena F. M. Opuni, Harald Illges, Ulrich Pecks, Michael O. Glocker: Dried serum spots on pre-punched filter paper discs are ready-to-use storage and shipping devices for blood-borne antigens and antibodies. In: Journal of Immunological Methods, Vol.519, 113519, 2023
PDF Download (CC BY 4.0) doi:10.1016/j.jim.2023.113519 PMID urn:nbn:de:hbz:1044-opus-73977 BibTeX | RIS

Alexander Jaekel, Michaela Wirtz, Stefan Lamotte, Mo Legelli: Performance in (Ultra-)high-performance liquid chromatography-How to qualify and optimize instruments in practice. In: Journal of Separation Science, 46(8), 2200894, 2023
doi:10.1002/jssc.202200894 PMID BibTeX | RIS

Richard Jäger: Special Issue on Whole Genome Amplification. In: International Journal of Molecular Sciences, 24(11), 9626, 2023
PDF Download (CC BY 4.0) doi:10.3390/ijms24119626 urn:nbn:de:hbz:1044-opus-72954 PMID BibTeX | RIS

Rene Y. Lawong, Fabian May, Etang C. Etang, Philipp Vorrat, Jonas George, Julia Weder, Dagmar Kockler, Matthias Preller, Mike Althaus: Recording Sodium Self-Inhibition of Epithelial Sodium Channels Using Automated Electrophysiology in Xenopus Oocytes. In: Membranes, 13(5), 529, 2023
PDF Download (CC BY 4.0) doi:10.3390/membranes13050529 urn:nbn:de:hbz:1044-opus-70317 PMID BibTeX | RIS

Claudia Fagliarone, Claudia Mosca, Giorgia Di Stefano, Stefan Leuko, Ralf Moeller, Elke Rabbow, Petra Rettberg, Daniela Billi: Enabling deep-space experimentations on cyanobacteria by monitoring cell division resumption in dried Chroococcidiopsis sp. 029 with accumulated DNA damage. In: Frontiers in Microbiology, Vol.14, 1150224, 2023
PDF Download (CC BY 4.0) doi:10.3389/fmicb.2023.1150224 urn:nbn:de:hbz:1044-opus-70297 PMID BibTeX | RIS

Claudio Neidhöfer, Kamni Rathore, Marijo Parčina, Martin A. Sieber: ESKAPEE Pathogen Biofilm Control on Surfaces with Probiotic Lactobacillaceae and Bacillus species. In: Antibiotics, 12(5), 871, 2023
PDF Download (CC BY 4.0) doi:10.3390/antibiotics12050871 urn:nbn:de:hbz:1044-opus-70179 PMID BibTeX | RIS

Mike Althaus, Diego Alvarez de la Rosa, Martin Fronius: ENaC channels. In: Zheng, Trudeau (Eds.): Properties, Function, and Pharmacology of the Superfamilies. Textbook of Ion Channels, Vol 2, Boca Raton: CRC Press, 2023, S. 323-336
doi:10.1201/9781003096276-21 BibTeX | RIS

Stephan Maxeiner, Gabriela Krasteva-Christ, Mike Althaus: Pitfalls of using sequence databases for heterologous expression studies - a technical review. In: The Journal of Physiology, 601(9), 2023, S. 1611-1623
PDF Download (CC BY-NC 4.0) doi:10.1113/JP284066 PMID urn:nbn:de:hbz:1044-opus-67145 BibTeX | RIS

Mateja Condic, Claudio Neidhöfer, Damian J. Ralser, Nina Wetzig, Ralf Thiele, Martin Sieber, Lucia A. Otten, Leonie K. Warwas, Achim Hoerauf, Alexander Mustea, Marijo Parčina: Analysis of the cervical microbiome in women from the German national cervical cancer screening program. In: Journal of Cancer Research and Clinical Oncology, 149(9), 2023, S. 6489-6500
PDF Download (CC BY 4.0) doi:10.1007/s00432-023-04599-0 PMID urn:nbn:de:hbz:1044-opus-66298 BibTeX | RIS

Sara-Sophie Poethe, Julia Holtel, Jan-Philip Biermann, Trine Riemer, Melanie Grabmüller, Burkhard Madea, Ralf Thiele, Richard Jäger: Cost-Effective Next Generation Sequencing-Based STR Typing with Improved Analysis of Minor, Degraded and Inhibitor-Containing DNA Samples. In: International Journal of Molecular Sciences, 24(4), 3382, 2023
PDF Download (CC BY 4.0) doi:10.3390/ijms24043382 urn:nbn:de:hbz:1044-opus-66045 PMID BibTeX | RIS

Stefan Kühn, Monray E. Williams, Marli Dercksen, Jörn Oliver Sass, Rencia van der Sluis: The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation. In: Computational and Structural Biotechnology Journal, Vol.21, 2023, S. 1236-1248
PDF Download (CC BY-NC-ND 4.0) doi:10.1016/j.csbj.2023.01.041 urn:nbn:de:hbz:1044-opus-66037 PMID BibTeX | RIS

Claudio Neidhöfer, Esther Sib, Al-Harith Benhsain, Christina Mutschnik-Raab, Anna Schwabe, Alexander Wollkopf, Nina Wetzig, Martin A. Sieber, Ralf Thiele, Manuel Döhla, Steffen Engelhart, Nico T. Mutters, Marijo Parčina: Examining Different Analysis Protocols Targeting Hospital Sanitary Facility Microbiomes. In: Microorganisms, 11(1), 185, 2023
PDF Download (CC BY 4.0) doi:10.3390/microorganisms11010185 urn:nbn:de:hbz:1044-opus-65910 PMID BibTeX | RIS

Alessandro Napoli, Claudia Coleine, Nikea J. Ulrich, Ralf Moeller, Daniela Billi, Laura Selbmann: Snow Surface Microbial Diversity at the Detection Limit within the Vicinity of the Concordia Station, Antarctica. In: Life, 13(1), 113, 2023
PDF Download (CC BY 4.0) doi:10.3390/life13010113 urn:nbn:de:hbz:1044-opus-65655 PMID BibTeX | RIS

Jörn Oliver Sass, Daniel Schulke: Intracellular localization of Glycine N-acyltransferase-like protein 1 (GLYATL1). In: Monatsschrift Kinderheilkunde, 171(Supplement issue 1), P07, 2023, S. S36
URL BibTeX | RIS

JinHeng Lin, Sean M. Gettings, Khaoula Talbi, Rainer Schreiber, Michael J. Taggart, Matthias Preller, Karl Kunzelmann, Mike Althaus, Michael A. Gray: Pharmacological inhibitors of the cystic fibrosis transmembrane conductance regulator exert off-target effects on epithelial cation channels. In: Pflügers Archiv: European Journal of Physiology, 475(2), 2023, S. 167-179
PDF Download (CC BY 4.0) doi:10.1007/s00424-022-02758-9 PMID urn:nbn:de:hbz:1044-opus-64572 BibTeX | RIS

Daniel Schulke, Jana C. Hollenbeck, Lil Klaas, Jörn Oliver Sass: Funktionale Gen-Analytik: Angeborenen Stoffwechselstörungen auf der Spur. In: GIT Labor-Fachzeitschrift, 66(4), 2022, S. 31-33
URL BibTeX | RIS

Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello: The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. In: Frontiers in Immunology, Vol.12, 811473, 2022
doi:10.3389/fimmu.2021.811473 PMID BibTeX | RIS

Natalie T. Deuitch, Dan Yang, Pui Y. Lee, Xiaomin Yu, Natalia Sampaio Moura, Oskar Schnappauf, Amanda K. Ombrello, Deborah Stone, Hye Sun Kuehn, Sergio D. Rosenzweig, Patrycja Hoffmann, Cornelia Cudrici, Deborah M. Levy, Elizabeth Kessler, Jennifer B. Soep, Arielle D. Hay, Austin Dalrymple, Yu Zhang, Li Sun, Qiuye Zhang, Xuemei Tang, Yuan Wu, Koneti Rao, Haibo Li, Hong Luo, Yao Zhang, Jon M. Burnham, Manfred Boehm, Karyl Barron, Daniel L. Kastner, Ivona Aksentijevich, Qing Zhou: TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). In: The Journal of Allergy and Clinical Immunology, 149(5), 2022, S. 1812-1816
doi:10.1016/j.jaci.2021.10.030 PMID BibTeX | RIS

Nina Grünen, Richard Jäger, Greg Shealy, Marco Schäfer, Wolfgang Peter: The secret life of HLA-H: Changing the paradigm. In: HLA, 99(5, Special issue), 2022, S. 521-522
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Catriona M. H. Anderson, Noel Edwards, Andrew K. Watson, Mike Althaus, David T. Thwaites: Reshaping the Binding Pocket of the Neurotransmitter:Solute Symporter (NSS) Family Transporter SLC6A14 (ATB0,+) Selectively Reduces Access for Cationic Amino Acids and Derivatives. In: Biomolecules, 12(10), 1404, 2022
PDF Download (CC BY 4.0) doi:10.3390/biom12101404 urn:nbn:de:hbz:1044-opus-64519 PMID BibTeX | RIS

Ying Zhang, Xiaolong Wu, Amit Sharma, Hans Weiher, Matthias Schmid, Glen Kristiansen, Ingo G. H. Schmidt-Wolf: Anti-CD40 predominates over anti-CTLA-4 to provide enhanced antitumor response of DC-CIK cells in renal cell carcinoma. In: Frontiers in Immunology, Vol.13, 925633, 2022
PDF Download (CC BY 4.0) doi:10.3389/fimmu.2022.925633 urn:nbn:de:hbz:1044-opus-64181 PMID BibTeX | RIS

Lu Fan, Anusha Kishore, Linda Jansen-Olliges, Dahua Wang, Frank Stahl, Olympia Ekaterini Psathaki, Jennifer Harre, Athanasia Warnecke, Julia Weder, Matthias Preller, Carsten Zeilinger: Identification of a Thyroid Hormone Binding Site in Hsp90 with Implications for Its Interaction with Thyroid Hormone Receptor Beta. In: ACS Omega, 7(33), 2022, S. 28932-28945
PDF Download (CC BY-NC-ND 4.0) doi:10.1021/acsomega.2c02331 PMID urn:nbn:de:hbz:1044-opus-64102 BibTeX | RIS

Alexander Jaekel, Michaela Wirtz, Stefan Lamotte, Mortimer Legelli: Leistungssteigerung in der HPLC: Wie Kapillaren und Partikeltechnologie das Chromatogramm verbessern. In: Wiley Analytical Science Magazine, 2022
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A. Cassaro, C. Pacelli, M. Baqué, A. Maturilli, U. Boettger, R. Moeller, A. Fujimori, J-P.P. de Vera, S. Onofri: Nucleic acids and melanin pigments after exposure to high doses of gamma rays: a biosignature robustness test. In: International Journal of Astrobiology, 21(5), 2022, S. 296-307
doi:10.1017/S1473550422000180 BibTeX | RIS

Lu Fan, Athanasia Warnecke, Julia Weder, Matthias Preller, Carsten Zeilinger: Triiodothyronine Acts as a Smart Influencer on Hsp90 via a Triiodothyronine Binding Site. In: International Journal of Molecular Sciences, 23(13), 7150, 2022
PDF Download (CC BY 4.0) doi:10.3390/ijms23137150 PMID urn:nbn:de:hbz:1044-opus-62922 BibTeX | RIS

Luis Zea, Samuel S. Piper, Hamid Gaikani, Mina Khoshnoodi, Tobias Niederwieser, Alex Hoehn, Mike Grusin, Jim Wright, Pamela Flores, Kristine Wilson, Ariana Lutsic, Louis Stodieck, Christopher E. Carr, Ralf Moeller, Corey Nislow: Experiment verification test of the Artemis I ‘Deep Space Radiation Genomics’ experiment. In: Acta Astronautica, 198(September 2022), 2022, S. 702-706
PDF Download (CC BY-NC-ND 4.0) doi:10.1016/j.actaastro.2022.06.018 urn:nbn:de:hbz:1044-opus-62918 BibTeX | RIS

Richard Jäger: New Perspectives for Whole Genome Amplification in Forensic STR Analysis. In: International Journal of Molecular Sciences, 23(13), 7090, 2022
PDF Download (CC BY 4.0) doi:10.3390/ijms23137090 urn:nbn:de:hbz:1044-opus-62826 PMID BibTeX | RIS

Yutao Li, Amit Sharma, Xiaolong Wu, Hans Weiher, Dirk Skowasch, Markus Essler, Ingo G. H. Schmidt-Wolf: A Combination of Cytokine-Induced Killer Cells With PD-1 Blockade and ALK Inhibitor Showed Substantial Intrinsic Variability Across Non-Small Cell Lung Cancer Cell Lines. In: Frontiers in Oncology, Vol.12, 713476, 2022
PDF Download (CC BY 4.0) doi:10.3389/fonc.2022.713476 urn:nbn:de:hbz:1044-opus-62446 PMID BibTeX | RIS

Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Jörn Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al-Hertani: 3-Hydroxyisobutyric Acid Dehydrogenase Deficiency: Expanding the Clinical Spectrum and Quantitation of D- and L-3-Hydroxyisobutyric Acid by an LC-MS/MS Method. In: Journal of Inherited Metabolic Disease, 45(3), 2022, S. 445-455
doi:10.1002/jimd.12486 PMID BibTeX | RIS

Jörn Oliver Sass, Sarah C. Grünert: Disorders of Ketone Body Metabolism and Transport. In: Blau, Dionisi Vici et al. (Eds.): Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Cham: Springer International Publishing, 2022, S. 967-980
doi:10.1007/978-3-030-67727-5_50 BibTeX | RIS

Nicola Longo, Jörn Oliver Sass, Agnieszka Jurecka, Jerry Vockley: Biomarkers for drug development in propionic and methylmalonic acidemias. In: Journal of Inherited Metabolic Disease, 45(2), 2022, S. 132-143
PDF Download (CC BY-ND 4.0) doi:10.1002/jimd.12478 PMID urn:nbn:de:hbz:1044-opus-60770 BibTeX | RIS

Ida Romano, Carlo Camerlingo, Lisa Vaccari, Giovanni Birarda, Annarita Poli, Akira Fujimori, Maria Lepore, Ralf Moeller, Paola Di Donato: Effects of Ionizing Radiation and Long-Term Storage on Hydrated vs. Dried Cell Samples of Extremophilic Microorganisms. In: Microorganisms, 10(1), 190, 2022
PDF Download (CC BY 4.0) doi:10.3390/microorganisms10010190 urn:nbn:de:hbz:1044-opus-60767 PMID BibTeX | RIS

Mike Althaus, Rene Yufenyuy Lawong: Proteolytic ENaC activation in health and disease—a complicated puzzle. In: Pflügers Archiv: European Journal of Physiology, 474(2), 2022, S. 177-179
PDF Download (CC BY 4.0) doi:10.1007/s00424-021-02644-w PMID urn:nbn:de:hbz:1044-opus-60084 BibTeX | RIS

Marcela A. Ferrada, Keith A. Sikora, Yiming Luo, Kristina V. Wells, Bhavisha Patel, Emma M. Groarke, Daniela Ospina Cardona, Emily Rominger, Patrycja Hoffmann, Mimi T. Le, Zuoming Deng, Kaitlin A. Quinn, Emily Rose, Wanxia L. Tsai, Gustaf Wigerblad, Wendy Goodspeed, Anne Jones, Lorena Wilson, Oskar Schnappauf, Ryan S. Laird, Jeff Kim, Clint Allen, Arlene Sirajuddin, Marcus Chen, Massimo Gadina, Katherine R. Calvo, Mariana J. Kaplan, Robert A. Colbert, Ivona Aksentijevich, Neal S. Young, Sinisa Savic, Daniel L. Kastner, Amanda K. Ombrello, David B. Beck, Peter C. Grayson: Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. In: Arthritis & Rheumatology, 73(10), 2021, S. 1886-1895
doi:10.1002/art.41743 PMID BibTeX | RIS

Justin Taft, Michael Markson, Diana Legarda, Roosheel Patel, Mark Chan, Louise Malle, Ashley Richardson, Conor Gruber, Marta Martín-Fernández, Grazia M. S. Mancini, Jan A. M. van Laar, Philomine van Pelt, Sofija Buta, Beatrijs H. A. Wokke, Ira K. D. Sabli, Vanessa Sancho-Shimizu, Pallavi Pimpale Chavan, Oskar Schnappauf, Raju Khubchandani, Müşerref Kasap Cüceoğlu, Seza Özen, Daniel L. Kastner, Adrian T. Ting, Ivona Aksentijevich, Iris H. I. M. Hollink, Dusan Bogunovic: Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. In: Cell, 184(17), 2021, S. 4447-4463
doi:10.1016/j.cell.2021.07.026 PMID BibTeX | RIS

Ivona Aksentijevich, Oskar Schnappauf: Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases. In: Nature Reviews Rheumatology, 17(7), 2021, S. 405-425
doi:10.1038/s41584-021-00614-1 PMID BibTeX | RIS

Oskar Schnappauf, Liane Heale, Dilan Dissanayake, Wanxia L. Tsai, Massimo Gadina, Thomas L. Leto, Daniel L. Kastner, Harry L. Malech, Douglas B. Kuhns, Ivona Aksentijevich, Ronald M. Laxer: Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report. In: Pediatric Rheumatology, 19(1), 54, 2021
doi:10.1186/s12969-021-00536-y PMID BibTeX | RIS

Oskar Schnappauf, Natalia Sampaio Moura, Ivona Aksentijevich, Monique Stoffels, Amanda K. Ombrello, Patrycja Hoffmann, Karyl Barron, Elaine F. Remmers, Michael Hershfield, Susan J. Kelly, David Cuthbertson, Simon Carette, Sharon A. Chung, Lindsy Forbess, Nader A. Khalidi, Curry L. Koening, Carol A. Langford, Carol A. McAlear, Paul A. Monach, Larry Moreland, Christian Pagnoux, Philip Seo, Jason M. Springer, Antoine G. Sreih, Kenneth J. Warrington, Steven R. Ytterberg, Daniel L. Kastner, Peter C. Grayson, Peter A. Merkel: Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. In: Arthritis & Rheumatology, 73(3), 2021, S. 512-519
doi:10.1002/art.41549 PMID BibTeX | RIS

Kevin E. Glinton, Anna C. E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah Parikh, Deepali N. Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian Martinez, Rebecca Signer, Pernille M. Torring, Morten Buch Engelund, Karen W. Gripp, Louise Amlie-Wolf, Lindsay B. Henderson, Alina T. Midro, Eugeniusz Tarasów, Beata Stasiewicz-Jarocka, Diana Moskal-Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger-Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C. Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Pawel Stankiewicz: Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. In: American Journal of Medical Genetics, Part A, 185(5), 2021, S. 1366-1378
doi:10.1002/ajmg.a.62102 PMID BibTeX | RIS

Ying Zhang, Amit Sharma, Hans Weiher, Matthias Schmid, Glen Kristiansen, Ingo G. H. Schmidt-Wolf: Clinical Studies on Cytokine-Induced Killer Cells: Lessons from Lymphoma Trials. In: Cancers, 13(23), 6007, 2021
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Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, Angelika Schoster: Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses. In: Molecular Genetics and Metabolism Reports, Vol.29, 100827, 2021
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Patrick Werner, Wolfgang Heiden, Ernst Kruijff, Andre Hinkenjann: Deep Learning in Mobile Sketch-Based Modelling. In: 2021 International Conference on Electrical, Computer, Communications and Mechatronics Engineering (ICECCME), Mauritius, 7-8 Oct. 2021, 2021, S. 1-5
doi:10.1109/ICECCME52200.2021.9590888 BibTeX | RIS

Glenn M. G. Theunissen, Andrew Gibb, Paul Kong Thoo Lin, Burkhard Rolf, Sophia Forat, Richard Jäger: DNA profiling of single sperm cells after whole genome amplification. In: Forensic Science International: Reports, Vol.4, 100240, 2021
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Zeshan P. Sheikh, Matthias Wulf, Søren Friis, Mike Althaus, Timothy Lynagh, Stephan A. Pless: The M1 and pre-M1 segments contribute differently to ion selectivity in ASICs and ENaCs. In: The Journal of General Physiology, 153(10), e202112899, 2021
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Xiaolong Wu, Amit Sharma, Johannes Oldenburg, Hans Weiher, Markus Essler, Dirk Skowasch, Ingo G. H. Schmidt-Wolf: NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation. In: Frontiers in Immunology, Vol.12, 731767, 2021
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Corinna Melanie Held, Anic Guebelin, Andreas Krebs, Jörn Oliver Sass, Michael Wurm, Ekkehart Lausch, Natascha van der Werf-Grohmann, Karl Otfried Schwab: Screening for hypophosphatasia: does biochemistry lead the way?. In: Journal of Pediatric Endocrinology & Metabolism, 35(2), 2021, S. 169-178
doi:10.1515/jpem-2021-0104 PMID BibTeX | RIS

Sean M. Gettings, Stephan Maxeiner, Maria Tzika, Matthew R. D. Cobain, Irina Ruf, Fritz Benseler, Nils Brose, Gabriela Krasteva-Christ, Greetje Vande Velde, Matthias Schönberger, Mike Althaus: Two Functional Epithelial Sodium Channel Isoforms Are Present in Rodents despite Pronounced Evolutionary Pseudogenization and Exon Fusion. In: Molecular Biology and Evolution, 38(12), 2021, S. 5704-5725
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S. Grünert, W. Foster, A. Schumann, L. Allan, C. Pontes, S. Roloff, N. Weinhold, W. Yue, A. AlAsmari, O. Obaid, E. Faqeih, L. Stübbe, R. Yamamoto, C. Gemperle-Britschgi, M. Walter, U. Spiekerkoetter, S. Mackinnon, J. Sass: The clinical spectrum and molecular heterogeneity of Succinyl- CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency. In: Monatsschrift Kinderheilkunde, 170(Suppl1), S13, 2021
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D. Schulke, J. Sass: Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism. In: Monatsschrift Kinderheilkunde, 170(Suppl1), S14, 2021
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A. Schumann, K. Schaller, V. Belche, M. Cybulla, S. Grünert, N. Moers, J. Sass, A. Kaech, L. Hannibal, U. Spiekerkötter: Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cells. In: Monatsschrift Kinderheilkunde, 170(Suppl1), 2021, S. S7-S8
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Claudia Pacelli, Alessia Cassaro, Loke M. Siong, Lorenzo Aureli, Ralf Moeller, Akira Fujimori, Igor Shuryak, Silvano Onofri: Insights into the Survival Capabilities of Cryomyces antarcticus Hydrated Colonies after Exposure to Fe Particle Radiation. In: Journal of Fungi, 7(7), 495, 2021
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Melanie Meyer, Jana C. Hollenbeck, Janine Reunert, Anja Seelhöfer, Stephan Rust, Manfred Fobker, Saskia Biskup, Ulrike Och, Mechthild Linden, Jörn Oliver Sass, Thorsten Marquardt: 3-Hydroxyisobutyrate Dehydrogenase (HIBADH) deficiency - a novel disorder of valine metabolism. In: Journal of Inherited Metabolic Disease, 44(6), 2021, S. 1323-1329
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Alisa Förster, Frank Brand, Rouzbeh Banan, Robert Hüneburg, Christine A. M. Weber, Wiebke Ewert, Jessica Kronenberg, Christopher Previti, Natalie Elyan, Ulrike Beyer, Helge Martens, Bujung Hong, Jan H. Bräsen, Andreas Erbersdobler, Joachim K. Krauss, Martin Stangel, Amir Samii, Stephan Wolf, Matthias Preller, Stefan Aretz, Bettina Wiese, Christian Hartmann, Ruthild G. Weber: Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin. In: Acta Neuropathologica, 142(1), 2021, S. 191-210
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Thomas Gerlach, Lukas Schauer, Michael Rademacher, Wolfgang Heiden, Karl Kirschner: Customized Software Environment for Remote Learning: Providing Students a Specialized Learning Experience. Preprint, 2021
doi:10.26434/chemrxiv.14356970.v1 BibTeX | RIS

Anke Schumann, Kristin Schaller, Véronique Belche, Markus Cybulla, Sarah C. Grünert, Nicolai Moers, Jörn O. Sass, Andres Kaech, Luciana Hannibal, Ute Spiekerkoetter: Defective lysosomal storage in Fabry Disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells. In: Journal of Inherited Metabolic Disease, 44(4), 2021, S. 1039-1050
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Sarah C. Grünert, William Foster, Anke Schumann, Allan Lund, Christina Pontes, Sylvia Roloff, Natalie Weinhold, Wyatt W. Yue, Ali AlAsmari, Osama A. Obaid, Eissa Ali Faqeih, Lisa Stübbe, Raina Yamamoto, Corinne Gemperle-Britschgi, Melanie Walter, Ute Spiekerkötter, Sabrina Mackinnon, Jörn Oliver Sass: Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease. In: Biochimie, 183(April 2021), 2021, S. 55-62
doi:10.1016/j.biochi.2021.02.003 PMID BibTeX | RIS

Richard Jäger, Hans Weiher: DNA Sequencing. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications. 3rd edition, Weinheim: Wiley-VCH, 2021, S. 153-158
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Richard Jäger, Hans Weiher: Polymerase Chain Reaction. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications. 3rd edition, Weinheim: Wiley-VCH, 2021, S. 147-152
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Hans Weiher: Hybridization of Nucleic Acids. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications. 3rd edition, Weinheim: Wiley-VCH, 2021, S. 137-140
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Hans Weiher: Chromatography and Electrophoresis of Nucleic Acids. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications. 3rd edition, Weinheim: Wiley-VCH, 2021, S. 133-135
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Hans Weiher: Isolation of DNA and RNA. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications. 3rd edition, Weinheim: Wiley-VCH, 2021, S. 129-131
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Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl-Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner: Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. In: Journal of Inherited Metabolic Disease, 44(3), 2021, S. 566-592
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Daniel Schulke, Jörn Oliver Sass: Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism. In: Biochimie, 183(April 2021), 2021, S. 30-34
doi:10.1016/j.biochi.2021.02.002 PMID BibTeX | RIS

Jörn Oliver Sass, Sarah C. Grünert: Impaired ketone body utilisation as a cause of life-threatening ketoacidosis. In: Postgraduate Medical Journal, 98(1161), e21, 2021
doi:10.1136/postgradmedj-2021-139710 PMID BibTeX | RIS

Peter Franz, Wiebke Ewert, Matthias Preller, Georgios Tsiavaliaris: Unraveling a Force-Generating Allosteric Pathway of Actomyosin Communication Associated with ADP and Pi Release. In: International Journal of Molecular Sciences, 22(1), 104, 2021
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Iram J. Haq, Mike Althaus, Aaron Ions Gardner, Hui Ying Yeoh, Urjita Joshi, Vinciane Saint-Criq, Bernard Verdon, Jennifer Townshend, Christopher O'Brien, Mahfud Ben-Hamida, Matthew Thomas, Stephen Bourke, Peter van der Sluijs, Ineke Braakman, Chris Ward, Michael A. Gray, Malcolm Brodlie: Clinical and molecular characterization of the R751L-CFTR mutation. In: American Journal of Physiology: Lung Cellular and Molecular Physiology, 320(2), 2021, S. L288-L300
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Sarah Aurora Heß, Salvatore Trapani, Maria del Mar Boronat, Glenn M. G. Theunissen, Burkhard Rolf, Richard Jäger: Ribosomal DNA as target for the assessment of DNA degradation of human and canine DNA. In: Legal Medicine, Vol.48, 101819, 2021
doi:10.1016/j.legalmed.2020.101819 PMID BibTeX | RIS

Matthew D. Benson, David J. A. Plemel, Paul R. Freund, James R. Lewis, Jörn Oliver Sass, Luzy Bähr, Corinne Gemperle-Britschgi, Patrick Ferreira, Ian M. MacDonald: Severe retinal degeneration in a patient with Canavan disease. In: Ophthalmic Genetics, 42(1), 2021, S. 75-78
doi:10.1080/13816810.2020.1827441 PMID BibTeX | RIS

Meera C. Viswanathan, William Schmidt, Peter Franz, Michael J. Rynkiewicz, Christopher S. Newhard, Aditi Madan, William Lehman, Douglas M. Swank, Matthias Preller, Anthony Cammarato: A role for actin flexibility in thin filament-mediated contractile regulation and myopathy. In: Nature Communications, 11(1), 2417, 2020
doi:10.1038/s41467-020-15922-5 PMID BibTeX | RIS

Oskar Schnappauf: Genetische Diagnostik autoinflammatorischer Erkrankungen. In: Zeitschrift für Rheumatologie, 79(7), 2020, S. 611-623
doi:10.1007/s00393-020-00847-7 PMID BibTeX | RIS

Oskar Schnappauf, Ivona Aksentijevich: Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation. In: Journal of Leukocyte Biology, 108(2), 2020, S. 573-589
doi:10.1002/JLB.2MR0520-166R PMID BibTeX | RIS

Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, Deborah L. Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T. Bjornsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, Nih Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich: Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. In: Journal of Clinical Immunology, 40(6), 2020, S. 917-926
doi:10.1007/s10875-020-00817-3 PMID BibTeX | RIS

Oskar Schnappauf, Amanda K. Ombrello, Daniel L. Kastner: Deficiency of adenosine deaminase 2: Is it an elephant after all?. In: The Journal of Allergy and Clinical Immunology, 145(6), 2020, S. 1560-1561
doi:10.1016/j.jaci.2020.04.023 PMID BibTeX | RIS

Andreas Krebs, Andreas Baum, Jürgen Doerfer, Klaus Gempel, Michael Wurm, Corinna Brichta, Jörn Oliver Sass, Karl Winkler, Karl Otfried Schwab: Short-Term Effects of Growth Hormone on Lipolysis, Glucose and Amino Acid Metabolism Assessed in Serum and Microdialysate of Healthy Young Men. In: Experimental and Clinical Endocrinology & Diabetes, 128(12), 2020, S. 819-826
doi:10.1055/a-1027-6620 PMID BibTeX | RIS

Lorenzo Aureli, Claudia Pacelli, Alessia Cassaro, Akira Fujimori, Ralf Moeller, Silvano Onofri: Iron Ion Particle Radiation Resistance of Dried Colonies of Cryomyces antarcticus Embedded in Martian Regolith Analogues. In: Life, 10(12), 306, 2020
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Vincenzo Zammuto, Maria G. Rizzo, Laura M. de Plano, Domenico Franco, Salvatore Guglielmino, Maria T. Caccamo, Salvatore Magazù, Akira Fujimori, Angelina Lo Giudice, Mauro Guglielmin, Kevin Roderick McAlpin, Ralf Moeller, Concetta Gugliandolo: Effects of Heavy Ion Particle Irradiation on Spore Germination of Bacillus spp. from Extremely Hot and Cold Environments. In: Life, 10(11), 264, 2020
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Wiebke Ewert, Peter Franz, Georgios Tsiavaliaris, Matthias Preller: Structural and Computational Insights into a Blebbistatin-Bound Myosin•ADP Complex with Characteristics of an ADP-Release Conformation along the Two-Step Myosin Power Stoke. In: International Journal of Molecular Sciences, 21(19), 7417, 2020
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Eugenia V. Díez García de Olalla, Francesca Garofano, Hans Weiher, Michael Muders, Sarah Förster, Ingo G. H. Schmidt-Wolf: Presence of the Transmembrane Protein Neuropilin in Cytokine-induced Killer Cells. In: Anticancer Research, 40(10), 2020, S. 5489-5496
doi:10.21873/anticanres.14560 PMID BibTeX | RIS

Mohamed A. Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès-Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah Catharina Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock-Hock Ngu, M. Mar Rovira-Remisa, Jörn Oliver Sass, Jolanta Sykut-Cegielska, Albina Tummolo, Lambertus P. van den Heuvel: The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. In: Molecular Genetics and Metabolism, 131(3), 2020, S. 285-288
doi:10.1016/j.ymgme.2020.09.004 PMID URL BibTeX | RIS

Boris Hespeels, Sébastien Penninckx, Valérie Cornet, Lucie Bruneau, Cécile Bopp, Véronique Baumlé, Baptiste Redivo, Anne-Catherine Heuskin, Ralf Moeller, Akira Fujimori, Stephane Lucas, Karine van Doninck: Iron Ladies – How Desiccated Asexual Rotifer Adineta vaga Deal With X-Rays and Heavy Ions?. In: Frontiers in Microbiology, Vol.11, 1792, 2020
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Lukas Wichmann, Mike Althaus: Evolution of epithelial sodium channels: current concepts and hypotheses. In: American Journal of Physiology: Regulatory, Integrative and Comparative Physiology, 319(4), 2020, S. R387-R400
doi:10.1152/ajpregu.00144.2020 PMID BibTeX | RIS

Claudia Pacelli, Alessia Cassaro, Lorenzo Aureli, Ralf Moeller, Akira Fujimori, Silvano Onofri: The Responses of the Black Fungus Cryomyces Antarcticus to High Doses of Accelerated Helium Ions Radiation within Martian Regolith Simulants and Their Relevance for Mars. In: Life, 10(8), 130, 2020
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Jörn Oliver Sass: Labordiagnostik bei angeborenen Stoffwechselstörungen. In: Monatsschrift Kinderheilkunde, 168(9), 2020, S. 777-785
doi:10.1007/s00112-020-00938-4 BibTeX | RIS

Mojgan Naghizadeh Dehno, Yutao Li, Hans Weiher, Ingo G. H. Schmidt-Wolf: Increase in Efficacy of Checkpoint Inhibition by Cytokine-Induced-Killer Cells as a Combination Immunotherapy for Renal Cancer. In: International Journal of Molecular Sciences, 21(9), 3078, 2020
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Sarah C. Grünert, Jörn Oliver Sass: 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. In: Orphanet Journal of Rare Diseases, 15(106), 2020
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Karl N. Kirschner, Javed Razzaq, Rudolf Berrendorf, Wolfgang Heiden: Conformations and three-dimensional structures of selected SARS-CoV-2 drug candidates. Hochschule Bonn-Rhein-Sieg, American Chemical Society ACS, 2020, (ChemRxiv.)
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Sarah C. Grünert, Jörn Oliver Sass: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces. In: Orphanet Journal of Rare Diseases, Vol.15, 48, 2020
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Karl N. Kirschner, Dirk Reith, Wolfgang Heiden: The performance of Dunning, Jensen, and Karlsruhe basis sets on computing relative energies and geometries. In: Soft Materials, 18(2-3), 2020, S. 200-214
doi:10.1080/1539445x.2020.1714656 BibTeX | RIS

Jörn Oliver Sass, Sidney Behringer, Malkanthi Fernando, Elisabetta Cesaroni, Ida Cursio, Alberto Volpini, Claudia Till: d-Glycerate kinase deficiency in a neuropediatric patient. In: Brain and Development, 42(2), 2020, S. 226-230
doi:10.1016/j.braindev.2019.11.008 PMID BibTeX | RIS

Oskar Schnappauf, Ivona Aksentijevich: Current and future advances in genetic testing in systemic autoinflammatory diseases. In: Rheumatology, 58(Suppl 6), 2019
doi:10.1093/rheumatology/kez294 PMID BibTeX | RIS

Oskar Schnappauf, Jae Jin Chae, Daniel L. Kastner, Ivona Aksentijevich: The Pyrin Inflammasome in Health and Disease. In: Frontiers in Immunology, Vol.10, 1745, 2019
doi:10.3389/fimmu.2019.01745 PMID BibTeX | RIS

Jason Liebowitz, David B. Hellmann, Oskar Schnappauf: Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency. In: The Journal of Rheumatology, 46(8), 2019, S. 1059-1060
doi:10.3899/jrheum.180820 PMID BibTeX | RIS

Honglin Feng, Noel Edwards, Catriona M. H. Anderson, Mike Althaus, Rebecca P. Duncan, Yu-Ching Hsu, Charles W. Luetje, Daniel R. G. Price, Alex C. C. Wilson, David T. Thwaites: Trading amino acids at the aphid-Buchnera symbiotic interface. In: Proceedings of the National Academy of Sciences of the United States of America, 116(32), 2019, S. 16003-16011
doi:10.1073/pnas.1906223116 PMID BibTeX | RIS

Lukas Wichmann, Jasdip Singh Dulai, Jon Marles-Wright, Stephan Maxeiner, Pawel Piotr Szczesniak, Ivan Manzini, Mike Althaus: An extracellular acidic cleft confers profound H+-sensitivity to epithelial sodium channels containing the δ-subunit in Xenopus laevispH-sensitivity of Xenopus δ-ENaC. In: The Journal of Biological Chemistry, 294(33), 2019, S. 12507-12520
doi:10.1074/jbc.RA119.008255 PMID BibTeX | RIS

Monika I. Hollenhorst, Innokentij Jurastow, Rajender Nandigama, Silke Appenzeller, Lei Li, Joerg Vogel, Stephanie Wiederhold, Mike Althaus, Martin Empting, Janine Altmueller, Anna K. H. Hirsch, Veit Flockerzi, Brendan J. Canning, Antoine-Emmanuel Saliba, Gabriela Krasteva-Christ: Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling. In: The FASEB Journal, 34(1), 2019, S. 316-332
doi:10.1096/fj.201901314RR PMID BibTeX | RIS

Jessica I. Hoell, Sebastian Ginzel, Michaela Kuhlen, Andreas Kloetgen, Michael Gombert, Ute Fischer, Daniel Hein, Salih Demir, Martin Stanulla, Martin Schrappe, Udo Zur Stadt, Peter Bader, Florian Babor, Friedhelm Schuster, Brigitte Strahm, Julia Alten, Anja Moericke, Gabriele Escherich, Arend von Stackelberg, Ralf Thiele, Alice C. McHardy, Christina Peters, Beat Bornhauser, Jean-Pierre Bourquin, Stefan Krause, Juergen Enczmann, Lüder Hinrich Meyer, Cornelia Eckert, Arndt Borkhardt, Roland Meisel: Pediatric ALL relapses after allo-SCT show high individuality, clonal dynamics, selective pressure, and druggable targets. In: Blood Advances, 3(20), 2019, S. 3143-3156
doi:10.1182/bloodadvances.2019000051 PMID BibTeX | RIS

Sarah Aurora Heß, Jan-Philip Biermann, Melanie Grabmüller, Burkhard Madea, Ralf Thiele, Richard Jäger: Evaluation of STR profiles of single telogen hairs using probabilistic methods. In: Forensic Science International: Genetics Supplement Series, 7(1), 2019, S. 454-456
doi:10.1016/j.fsigss.2019.10.049 BibTeX | RIS

David Stahl, Andrew J. Gentles, Ralf Thiele, Ines Gütgemann: Prognostic profiling of the immune cell microenvironment in Ewing´s Sarcoma Family of Tumors. In: OncoImmunology, 8(12), e1674113, 2019
doi:10.1080/2162402x.2019.1674113 PMID BibTeX | RIS

Maria Fitria Setiawan, Oliver Rudan, Annabelle Vogt, Maria A. Gonzalez-Carmona, Bettina Langhans, Roland Schmidt-Wolf, Francesca Garofano, Christian P. Strassburg, Juan J. Lasarte, Noelia Casares, Teresa Lozano, Hans Weiher, Ingo G. H. Schmidt-Wolf: FOXP3 Inhibitory Peptide P60 Increases Efficacy of Cytokine-induced Killer Cells Against Renal and Pancreatic Cancer Cells. In: Anticancer Research, 39(10), 2019, S. 5369-5374
doi:10.21873/anticanres.13730 PMID BibTeX | RIS

Despina Tsortouktzidis, Kathleen Grundke, Claudia Till, Anne Korwitz-Reichelt, Jörn Oliver Sass: Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid. In: Metabolic Brain Disease, 34(6), 2019, S. 1629-1634
doi:10.1007/s11011-019-00470-9 PMID BibTeX | RIS

Bright D. Danquah, Claudia Röwer, Kwabena F. M. Opuni, Reham El-Kased, David Frommholz, Harald Illges, Cornelia Koy, Michael O. Glocker: Intact Transition Epitope Mapping - Targeted High-Energy Rupture of Extracted Epitopes (ITEM-THREE). In: Molecular & Cellular Proteomics, 18(8), 2019, S. 1543-1555
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D. Stahl, R. Thiele, A. J. Gentles, S. Schönberger, G. Kristiansen, I. Gütgemann: Prognostic profiling of the immune cell microenvironment in Ewing sarcoma/PNET. In: Der Pathologe, 40(Suppl 2), 2019, S. S105-S106
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S. Roloff, L. Stübbe, C. Gemperle-Britschgi, R. Yamamoto, J. Hennermann, N. Weinhold, J. O. Sass: Disorders of ketone body transport and utilization as a cause of recurrent metabolic acidosis: succinyl-coenzyme A: 3-oxoacyl coenzyme A transferase (SCOT) deficiency (mutations in the OXCT1 gene) and monocarboxylate transporter 1 (MCT1) deficiency. In: Monatsschrift Kinderheilkunde, 167(4), 2019, S. 373
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Jörn Oliver Sass, Ina Knerr: Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria). In: Oohashi, Tsukahara et al. (Eds.): Human Pathobiochemistry: From Clinical Studies to Molecular Mechanisms, Singapore: Springer, 2019, S. 15-21
doi:10.1007/978-981-13-2977-7_2 BibTeX | RIS

Sema Safi, David Frommholz, Susanne Reimann, Werner Götz, Christoph Bourauel, Anna-Lena Neumann, Achim Hoerauf, Harald Illges, Ali-Farid Safi, Andreas Jäger, Marc P. Hübner, Lina Gölz: Comparative study on serum-induced arthritis in the temporomandibular and limb joint of mice. In: International Journal of Rheumatic Diseases, 22(4), 2019, S. 636-645
doi:10.1111/1756-185X.13486 PMID BibTeX | RIS

Maja Dembic, Henriette S. Andersen, Jean Bastin, Thomas K. Doktor, Thomas J. Corydon, Jörn Oliver Sass, Alexandra Lopes Costa, Fatima Djouadi, Brage S. Andresen: Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease. In: Molecular Genetics and Metabolism, 126(1), 2019, S. 64-76
doi:10.1016/j.ymgme.2018.10.004 PMID BibTeX | RIS

Pui Y. Lee, Yuelong Huang, Qing Zhou, Oskar Schnappauf, Michael S. Hershfield, Ying Li, Nancy J. Ganson, Natalia Sampaio Moura, Ottavia M. Delmonte, Scellig S. Stone, Michael J. Rivkin, Sung-Yun Pai, Todd Lyons, Robert P. Sundel, Victor W. Hsu, Luigi D. Notarangelo, Ivona Aksentijevich, Peter A. Nigrovic: Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. In: The Journal of Allergy and Clinical Immunology, 142(4), 2018, S. 1363-1365
doi:10.1016/j.jaci.2018.05.038 PMID BibTeX | RIS

Chrissy Kandel, Patricia Schmidt, Alexander Perniss, Maryam Keshavarz, Paul Scholz, Sabrina Osterloh, Mike Althaus, Wolfgang Kummer, Klaus Deckmann: ENaC in Cholinergic Brush Cells. In: Frontiers in Cell and Developmental Biology, Vol.6, 89, 2018
doi:10.3389/fcell.2018.00089 PMID BibTeX | RIS

Cassie R. Bakshani, Ana L. Morales-Garcia, Mike Althaus, Matthew D. Wilcox, Jeffrey P. Pearson, John C. Bythell, J. Grant Burgess: Evolutionary conservation of the antimicrobial function of mucus: a first defence against infection. In: npj Biofilms and Microbiomes, Vol.4, 14, 2018
doi:10.1038/s41522-018-0057-2 PMID BibTeX | RIS

Lukas Wichmann, Kirsty Sophia Vowinkel, Alexander Perniss, Ivan Manzini, Mike Althaus: Incorporation of the -subunit into the epithelial sodium channel (ENaC) generates protease-resistant ENaCs in Xenopus laevis. In: The Journal of Biological Chemistry, 293(18), 2018, S. 6647-6658
doi:10.1074/jbc.RA118.002543 PMID BibTeX | RIS

Eoghan McGrath, Susan Logue, Katarzyna Mnich, Shane Deegan, Richard Jäger, Adrienne Gorman, Afshin Samali: The Unfolded Protein Response in Breast Cancer. In: Cancers, 10(10), 344, 2018
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Ahmad M. Al‑Dali, Hans Weiher, Ingo G. H. Schmidt-Wolf: Utilizing ethacrynic acid and ciclopirox olamine in liver cancer. In: Oncology Letters, 16(5), 2018, S. 6854-6860
doi:10.3892/ol.2018.9472 PMID BibTeX | RIS

Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass: Amino Acids and Inherited Amino Acid-Related Disorders. In: Journal of Nutrition and Metabolism, Vol.2018, 5629454, 2018
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Jörn Oliver Sass, Malkanthi Fernando, Sidney Behringer: Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids. In: Journal of Inborn Errors of Metabolism and Screening, Vol.6, 2018, S. 1-4
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Susan E. Logue, Eoghan P. McGrath, Patricia Cleary, Stephanie Greene, Katarzyna Mnich, Aitor Almanza, Eric Chevet, Róisín M. Dwyer, Anup Oommen, Patrick Legembre, Florence Godey, Emma C. Madden, Brian Leuzzi, Joanna Obacz, Qingping Zeng, John B. Patterson, Richard Jäger, Adrienne M. Gorman, Afshin Samali: Inhibition of IRE1 RNase activity modulates the tumor cell secretome and enhances response to chemotherapy. In: Nature Communications, Vol.9, 3267, 2018
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Ebru Canda, Havva Yazici, E. R. Esra, Sema Kalkan Ucar, Corinne Gemperle-Britschgi, Sara Habif, Huseyin Onay, Jörn Oliver Sass, Mahmut Coker: Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?. In: İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, 8(2), 2018, S. 115-121
doi:10.5222/buchd.2018.115 BibTeX | RIS

Jessica I. Hoell, Sebastian Ginzel, Michaela Kuhlen, Andreas Klötgen, Michael Gombert, Ute Fischer, Daniel Schäfer, Martin Stanulla, Martin Schrappe, Udo zur Stadt, Peter Bader, Florian Babor, Friedhelm Schuster, Brigitte Strahm, Julia Alten, Anja Moericke, Gabriele Escherich, Arend von Stackelberg, Ralf Thiele, Alice C. McHardy, Christina Peters, Cornelia Eckert, Arndt Borkhardt, Roland Meisel: Whole-Exome-Sequencing identifiziert hohe Plastizität, Selektionsdruck und „druggable targets“ in Leukämiezellen pädiatrischer ALL Rezidive nach allogener Stammzelltransplantation. In: Monatsschrift Kinderheilkunde, 166(7), 2018, S. 648
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Jörn Oliver Sass, Toshiyuki Fukao, Grant A. Mitchell: Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories. In: Journal of Inborn Errors of Metabolism and Screening, Vol.6, 2018, S. 1-7
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A. Korwitz-Reichelt, M. Walter, J. O. Sass: Human D-glycerate kinase is a mitochondrial protein. In: Monatsschrift Kinderheilkunde, 166(4), 2018, S. 372
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L. Klaas, J. O. Sass: Deciphering novel functions of aminoacylases. In: Monatsschrift Kinderheilkunde, 166(4), 2018, S. 377
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A. Korwitz-Reichelt, D. Tsortouktzidis, K. Grundke, J. O. Sass: Characterization of acylpeptide hydrolase sequence variants -potential implications for valproic acid efficacy and Alzheimer’s disease. In: Monatsschrift Kinderheilkunde, 166(4), 2018, S. 377
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Jörn Oliver Sass, Barbara Plecko-Startinig: Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy. In: Pearl (Ed.): Inherited Metabolic Epilepsies, 2nd Edition, New York: Demos, 2018, S. 394-400
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Jörn Oliver Sass, Sema Kalkan Uçar, Clara D.M. van Karnebeek: From rodent heart to inborn errors of human metabolism. In: Molecular Genetics and Metabolism, 123(3), 2018, S. 287-288
doi:10.1016/j.ymgme.2018.02.001 PMID BibTeX | RIS

Simon Julius Mayr, Jörn Oliver Sass, Julia Vry, Janbernd Kirschner, Irina Mader, Jan-Bernd Hövener, Jochen Reiss, José Angel Santamaria-Araujo, Günter Schwarz, Sarah Catharina Grünert: A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. In: Journal of Inherited Metabolic Disease, 41(2), 2018, S. 187-196
doi:10.1007/s10545-018-0138-7 PMID BibTeX | RIS

Karl N. Kirschner, Wolfgang Heiden, Dirk Reith: Small Alcohols Revisited: CCSD(T) Relative Potential Energies for the Minima, First- and Second-Order Saddle Points, and Torsion-Coupled Surfaces. In: ACS Omega, 3(1), 2018, S. 419-432
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Anna Zakrzewicz, Katrin Richter, Alisa Agne, Sigrid Wilker, Kathrin Siebers, Bijan Fink, Gabriela Krasteva-Christ, Mike Althaus, Winfried Padberg, Arik J. Hone, J. Michael McIntosh, Veronika Grau: Canonical and Novel Non-Canonical Cholinergic Agonists Inhibit ATP-Induced Release of Monocytic Interleukin-1 beta via Different Combinations of Nicotinic Acetylcholine Receptor Subunits alpha 7, alpha 9 and alpha 10. In: Frontiers in Cellular Neuroscience, Vol.11, 189, 2017
doi:10.3389/fncel.2017.00189 PMID BibTeX | RIS

Alexander Perniss, Kathrin Preiss, Marcel Nier, Mike Althaus: Hydrogen sulfide stimulates CFTR in Xenopus oocytes by activation of the cAMP/PKA signalling axis. In: Scientific Reports, Vol.7, 3517, 2017
doi:10.1038/s41598-017-03742-5 PMID BibTeX | RIS

Maryam Keshavarz, Heike Schwarz, Petra Hartmann, Silke Wiegand, Melanie Skill, Mike Althaus, Wolfgang Kummer, Gabriela Krasteva-Christ: Caveolin-1: Functional Insights into Its Role in Muscarine- and Serotonin-Induced Smooth Muscle Constriction in Murine Airways. In: Frontiers in Physiology, Vol.8, 295, 2017
doi:10.3389/fphys.2017.00295 PMID BibTeX | RIS

Jessica Lohrke, Anna-Lena Frisk, Thomas Frenzel, Laura Schöckel, Martin Rosenbruch, Gregor Jost, Diana Constanze Lenhard, Martin A. Sieber, Volker Nischwitz, Astrid Küppers, Hubertus Pietsch: Histology and Gadolinium Distribution in the Rodent Brain After the Administration of Cumulative High Doses of Linear and Macrocyclic Gadolinium-Based Contrast Agents. In: Investigative Radiology, 52(6), 2017, S. 324-333
doi:10.1097/RLI.0000000000000344 PMID BibTeX | RIS

Gonca Kılıç-Yıldırım, Sultan Durmuş-Aydoğdu, Serdar Ceylaner, Jörn Oliver Sass: Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. In: The Turkish Journal of Pediatrics, 59(4), 2017, S. 471-474
doi:10.24953/turkjped.2017.04.016 PMID BibTeX | RIS

KFM Opuni, S Solomon, F Metzen, D Frommholz, C Koy, C Röwer, MO Glocker, H Illges, PC Anderson: In silico Epitope Mapping of Glucose-6-Phosphate Isomerase: A Rheumatoid Arthritis Autoantigen. In: Journal of Proteomics & Bioinformatics, 10(3), 2017, S. 60-72
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Arjan Pol, G. Herma Renkema, Albert Tangerman, Edwin G. Winkel, Udo F. Engelke, Arjan P. M. de Brouwer, Kent C. Lloyd, Renee S. Araiza, Lambert van den Heuvel, Heymut Omran, Heike Olbrich, Marijn Oude Elberink, Christian Gilissen, Richard J. Rodenburg, Jörn Oliver Sass, K. Otfried Schwab, Hendrik Schäfer, Hanka Venselaar, J. Silvia Sequeira, Huub J. M. Op den Camp, Ron A. Wevers: Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. In: Nature Genetics, 50(1), 2017, S. 120-129
doi:10.1038/s41588-017-0006-7 PMID URL BibTeX | RIS

Glenn M. G. Theunissen, Burkhard Rolf, Andrew Gibb, Richard Jäger: DNA profiling of sperm cells by using micromanipulation and whole genome amplification. In: Forensic Science International: Genetics Supplement Series, Vol.6, 2017, S. e497-e499
doi:10.1016/j.fsigss.2017.09.183 BibTeX | RIS

Yelena Yefremova, F. Teresa I. Melder, Bright D. Danquah, Kwabena F. M. Opuni, Cornelia Koy, Alexandra Ehrens, David Frommholz, Harald Illges, Knut Koelbel, Frank Sobott, Michael O. Glocker: Apparent activation energies of protein–protein complex dissociation in the gas–phase determined by electrospray mass spectrometry. In: Analytical and Bioanalytical Chemistry, 409(28), 2017, S. 6549-6558
doi:10.1007/s00216-017-0603-4 PMID BibTeX | RIS

Stephanie Oerum, Martine Roovers, Michael Leichsenring, Cécile Acquaviva-Bourdain, Frauke Beermann, Corinne Gemperle-Britschgi, Alain Fouilhoux, Anne Korwitz-Reichelt, Henry J. Bailey, Louis Droogmans, Udo Oppermann, Jörn Oliver Sass, Wyatt W. Yue: Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1863(12), 2017, S. 3294-3302
doi:10.1016/j.bbadis.2017.09.002 PMID BibTeX | RIS

Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch: When one disease is not enough: Succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria. In: Journal of Pediatric Endocrinology & Metabolism, 30(10), 2017, S. 1121-1124
doi:10.1515/jpem-2017-0177 PMID BibTeX | RIS

Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, Corinne Gemperle-Britschgi, Mehmet Cihan Balcı, Volker Berg, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Terry G. J. Derks, Gülden Gökçay, Sema Kalkan Uçar, Vassiliki Konstantopoulou, G. Christoph Korenke, Amelie Sophia Lotz-Havla, Andrea Schlune, Christian Staufner, Christel Tran, Gepke Visser, Karl Otfried Schwab, Toshiyuki Fukao, Jörn Oliver Sass: Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. In: Molecular Genetics and Metabolism, 122(1-2), 2017, S. 67-75
doi:10.1016/j.ymgme.2017.06.012 PMID BibTeX | RIS

Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mehmet Cihan Balcı, Felix Bischof, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Maaike de Vries, Gülden Gökçay, Johannes Häberle, Sema Kalkan Uçar, Amelie Sophia Lotz-Havla, Thomas Lücke, Dominique Roland, Frank Rutsch, René Santer, Andrea Schlune, Christian Staufner, Karl Otfried Schwab, Grant A. Mitchell, Jörn Oliver Sass: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. In: Molecular Genetics and Metabolism, 121(3), 2017, S. 206-215
doi:10.1016/j.ymgme.2017.05.014 PMID BibTeX | RIS

David Stephan, Hans Weiher, Ingo G. H. Schmidt-Wolf: CIK Cells and HDAC Inhibitors in Multiple Myeloma. In: International Journal of Molecular Sciences, 18(5), 945, 2017
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Michael A. Swanson, Stephanie M. Garcia, Elaine Spector, Kathryn Kronquist, Geralyn Creadon-Swindell, Melanie Walter, Ernst Christensen, Johan L.K. van Hove, Jörn Oliver Sass: d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. In: Molecular Genetics and Metabolism, 121(2), 2017, S. 80-82
doi:10.1016/j.ymgme.2017.04.009 PMID BibTeX | RIS

Calogero S. Messina, Hans Weiher, Ingo G. H. Schmidt-Wolf: Targeting Prostate Cancer with a Combination of WNT Inhibitors and a Bi-functional Peptide. In: Anticancer Research, 37(2), 2017, S. 555-559
doi:10.21873/anticanres.11348 PMID BibTeX | RIS

Attia Kalim, Patricia Fitzsimons, Claudia Till, Malkanthi Fernando, Philip Mayne, Jörn Oliver Sass, Ellen Crushell: Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder. In: Brain and Development, 39(6), 2017, S. 536-538
doi:10.1016/j.braindev.2017.01.005 PMID BibTeX | RIS

Karl N. Kirschner, Wolfgang Heiden, Dirk Reith: Relative electronic and free energies of octane's unique conformations. In: Molecular Physics, 115(9-12), 2017, S. 1155-1165
doi:10.1080/00268976.2016.1262076 BibTeX | RIS

Chidimma A. Nwangwu, Hans Weiher, Ingo G. H. Schmidt-Wolf: Increase of CIK cell efficacy by upregulating cell surface MICA and inhibition of NKG2D ligand shedding in multiple myeloma. In: Hematological Oncology, 35(4), 2017, S. 719-725
doi:10.1002/hon.2326 PMID BibTeX | RIS

Florian Grahammer, Suresh K. Ramakrishnan, Markus M. Rinschen, Alexey A. Larionov, Maryam Syed, Hazim Khatib, Malte Roerden, Jörn Oliver Sass, Martin Helmstaedter, Dorothea Osenberg, Lucas Kuhne, Oliver Kretz, Nicola Wanner, Francois Jouret, Thomas Benzing, Ferruh Artunc, Tobias B. Huber, Franziska Theilig: mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells. In: Journal of the American Society of Nephrology, 28(1), 2017, S. 230-241
doi:10.1681/ASN.2015111224 PMID BibTeX | RIS

Oskar Schnappauf, Sven Beyes, Annika Dertmann, Vivien Freihen, Patrick Frey, Sabine Jägle, Katja Rose, Tom Michoel, Rudolf Grosschedl, Andreas Hecht: Enhancer decommissioning by Snail1-induced competitive displacement of TCF7L2 and down-regulation of transcriptional activators results in EPHB2 silencing. In: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1859(11), 2016, S. 1353-1367
doi:10.1016/j.bbagrm.2016.08.002 PMID BibTeX | RIS

Nicole C. Krause, Hanna S. Kutsche, Fabrizio Santangelo, Eric R. DeLeon, Nikolaus P. Dittrich, Kenneth R. Olson, Mike Althaus: Hydrogen sulfide contributes to hypoxic inhibition of airway transepithelial sodium absorption. In: American Journal of Physiology: Regulatory, Integrative and Comparative Physiology, 311(3), 2016
doi:10.1152/ajpregu.00177.2016 PMID BibTeX | RIS

K. Richter, V. Mathes, M. Fronius, M. Althaus, A. Hecker, G. Krasteva-Christ, W. Padberg, A. J. Hone, J. M. McIntosh, A. Zakrzewicz, V. Grau: Phosphocholine - an agonist of metabotropic but not of ionotropic functions of α9-containing nicotinic acetylcholine receptors. In: Scientific Reports, Vol.6, 28660, 2016
doi:10.1038/srep28660 PMID BibTeX | RIS

Ervice Pouokam, Mike Althaus: Epithelial Electrolyte Transport Physiology and the Gasotransmitter Hydrogen Sulfide. In: Oxidative Medicine and Cellular Longevity, Vol.2016, 4723416, 2016
doi:10.1155/2016/4723416 PMID BibTeX | RIS

Georg Staubli, Matthias Baumgartner, Jörn Oliver Sass, Martin Hersberger: Laughing Gas in a Pediatric Emergency Department-Fun for All Participants: Vitamin B12 Status Among Medical Staff Working With Nitrous Oxide. In: Pediatric Emergency Care, 32(12), 2016, S. 827-829
doi:10.1097/PEC.0000000000000582 PMID BibTeX | RIS

Gregor Jost, Diana Constanze Lenhard, Martin Andrew Sieber, Jessica Lohrke, Thomas Frenzel, Hubertus Pietsch: Signal Increase on Unenhanced T1-Weighted Images in the Rat Brain After Repeated, Extended Doses of Gadolinium-Based Contrast Agents: Comparison of Linear and Macrocyclic Agents. In: Investigative Radiology, 51(2), 2016, S. 83-89
doi:10.1097/RLI.0000000000000242 PMID BibTeX | RIS

Jan Endrikat, Martin A. Sieber, Jacob Agris, Hubertus Pietsch: Comments on the article "Tissue gadolinium deposition in hepatorenally impaired rats exposed to Gd-EOB-DTPA: evaluation with inductively coupled plasma mass spectrometry (ICP-MS)" by Tomohiro Sato, Tsutomu Tamada, Shigeru Watanabe et al. DOI 10.1007/s11547-014-0492-y. In: La Radiologia Medica, 121(3), 2016, S. 238-239
doi:10.1007/s11547-015-0591-4 PMID BibTeX | RIS

Hiroki Otsuka, Hideo Sasai, Mina Nakama, Yuka Aoyama, Elsayed Abdelkreem, Hidenori Ohnishi, Vassiliki Konstantopoulou, Jörn Oliver Sass, Toshiyuki Fukao: Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. In: Molecular Medicine Reports, 14(5), 2016, S. 4906-4910
doi:10.3892/mmr.2016.5819 PMID BibTeX | RIS

Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, Nisha Patel, Melanie Walter, Albena Jordanova, Majid Alfadhel, Ivo Barić, Mahmut Coker, Aynur Damli-Huber, Eissa Ali Faqeih, Nuria García Segarra, Michael T. Geraghty, Bjørn Magne Jåtun, Sema Kalkan Ucar, Merten Kriewitz, Markus Rauchenzauner, Karmen Bilić, Ivailo Tournev, Claudia Till, Bryan Sayson, Daniel Beumer, Cynthia Xin Ye, Lin-Hua Zhang, Hilary Vallance, Fowzan S. Alkuraya, Clara D.M. van Karnebeek: Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAHmutations: 20 new mutations in 14 families. In: Molecular Genetics and Metabolism, 119(1-2), 2016, S. 44-49
doi:10.1016/j.ymgme.2016.07.008 PMID BibTeX | RIS

Laura Esser, Hans Weiher, Ingo Schmidt-Wolf: Increased Efficacy of Brentuximab Vedotin (SGN-35) in Combination with Cytokine-Induced Killer Cells in Lymphoma. In: International Journal of Molecular Sciences, 17(7), 1056, 2016
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Maria Joosten, Sebastian Ginzel, Christian Blex, Dmitri Schmidt, Michael Gombert, Cai Chen, René Martin Linka, Olivia Gräbner, Anika Hain, Burkhard Hirsch, Anke Sommerfeld, Anke Seegebarth, Uschi Gruber, Corinna Maneck, Langhui Zhang, Katharina Stenin, Henrik Dieks, Michael Sefkow, Carsten Münk, Claudia D. Baldus, Ralf Thiele, Arndt Borkhardt, Michael Hummel, Hubert Köster, Ute Fischer, Mathias Dreger, Volkhard Seitz: A novel approach to detect resistance mechanisms reveals FGR as a factor mediating HDAC inhibitor SAHA resistance in B-cell lymphoma. In: Molecular Oncology, 10(8), 2016, S. 1232-1244
doi:10.1016/j.molonc.2016.06.001 PMID BibTeX | RIS

Roman Rombo, Hans Weiher, Ingo G. H. Schmidt-Wolf: Effect of chaetocin on renal cell carcinoma cells and cytokine-induced killer cells. In: GMS German Medical Science, Vol.14, Doc04, 2016
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Hans Weiher, Haymo Pircher, Pidder Jansen-Dürr, Silke Hegenbarth, Percy Knolle, Silke Grunau, Miia Vapola, J. Kalervo Hiltunen, Ralf M. Zwacka, Elmon Schmelzer, Kerstin Reumann, Hans Will: A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells. In: BMC Research Notes, Vol.9, 128, 2016
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Nasser Dhayat, Alexandre Simonin, Manuel Anderegg, Ganesh Pathare, Benjamin P. Lüscher, Christine Deisl, Giuseppe Albano, David Mordasini, Matthias A. Hediger, Daniel V. Surbek, Bruno Vogt, Jörn Oliver Sass, Barbara Kloeckener-Gruissem, Daniel G. Fuster: Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. In: Journal of the American Society of Nephrology, 27(5), 2016, S. 1426-1436
doi:10.1681/ASN.2015040411 PMID BibTeX | RIS

Jörn Oliver Sass, Jathana Vaithilingam, Corinne Gemperle-Britschgi, Cathérine C. S. Delnooz, Leo A. J. Kluijtmans, Bart P. C. van de Warrenburg, Ron A. Wevers: Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. In: Metabolic Brain Disease, 31(3), 2016, S. 587-592
doi:10.1007/s11011-015-9778-6 PMID BibTeX | RIS

Shanti Balasubramaniam, Barry Lewis, Lawrence Greed, David Meili, Annegret Flier, Raina Yamamoto, Karmen Bilić, Claudia Till, Jörn Oliver Sass: Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis. In: JIMD Reports, Vol.29, 2016, S. 33-38
doi:10.1007/8904_2015_519 PMID BibTeX | RIS

Oskar Schnappauf: Mechanisms of enhancer regulation. Dissertation, Albert-Ludwigs-Universität Freiburg im Breisgau, 2015
doi:10.6094/UNIFR/10194 URL BibTeX | RIS

Alexander Perniss, Annemarie Wolf, Lukas Wichmann, Matthias Schoenberger, Mike Althaus: Evans Blue is not a suitable inhibitor of the epithelial sodium channel δ-subunit. In: Biochemical and Biophysical Research Communications, 466(3), 2015, S. 468-474
doi:10.1016/j.bbrc.2015.09.052 PMID BibTeX | RIS

Alisa M. Agne, Jan-Peter Baldin, Audra R. Benjamin, Maria C. Orogo-Wenn, Lukas Wichmann, Kenneth R. Olson, Dafydd V. Walters, Mike Althaus: Hydrogen sulfide decreases β-adrenergic agonist-stimulated lung liquid clearance by inhibiting ENaC-mediated transepithelial sodium absorption. In: American Journal of Physiology: Regulatory, Integrative and Comparative Physiology, 308(7), 2015, S. R636-R649
doi:10.1152/ajpregu.00489.2014 PMID BibTeX | RIS

Victoria Elsner, Volker Wulf, Michaela Wirtz, Oliver J. Schmitz: Reproducibility of retention time and peak area in comprehensive two-dimensional liquid chromatography. In: Analytical and Bioanalytical Chemistry, 407(1), 2015, S. 279-284
doi:10.1007/s00216-014-8090-3 PMID BibTeX | RIS

Vasily D. Antonenkov, Antti Isomursu, Daniela Mennerich, Miia H. Vapola, Hans Weiher, Thomas Kietzmann, J. Kalervo Hiltunen: The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential. In: The Journal of Biological Chemistry, 290(22), 2015, S. 13840-13861
doi:10.1074/jbc.M114.608083 PMID BibTeX | RIS

Thomas Frenzel, Rüdiger Lawaczeck, Matthias Taupitz, Gregor Jost, Jessica Lohrke, Martin A. Sieber, Hubertus Pietsch: Contrast Media for X-ray and Magnetic Resonance Imaging: Development, Current Status and Future Perspectives. In: Investigative Radiology, 50(9), 2015, S. 671-678
doi:10.1097/RLI.0000000000000193 PMID BibTeX | RIS

Behzad Yeganeh, Richard Jäger, Adrienne M. Gorman, Afshin Samali, Saeid Ghavami: Induction of Autophagy: Role of Endoplasmic Reticulum Stress and Unfolded Protein Response. In: Hayat (Ed.): Autophagy: Cancer, Other Pathologies, Inflammation, Immunity, Infection, and Aging. Volume 7: Role of Autophagy in Therapeutic Applications, San Diego, CA: Academic Press, 2015, S. 91-101
doi:10.1016/B978-0-12-801043-3.00005-4 BibTeX | RIS

Karl Linke, Harald Illges: Detection of sCD21 in Human Blood Using ELISA is Influenced by Ethylenediaminetetraacetic Acid (EDTA) Containing Blood Collection Tubes. In: Clinical Laboratory, 61(11), 2015, S. 1803-1808
doi:10.7754/Clin.Lab.2015.150333 PMID BibTeX | RIS

Manuel Kehl, Markus Enzweiler, Bjoern Froehlich, Uwe Franke, Wolfgang Heiden: Vision-Based Road Sign Detection. In: 18th IEEE International Conferenceon Intelligent Transportation Systems (ITSC 2015). 15–18 September 2015, Gran Canaria, Spain, Proceedings, 2015, S. 505-510
doi:10.1109/ITSC.2015.89 BibTeX | RIS

Alberto Martin-Lorenzo, Julia Hauer, Carolina Vicente-Duenas, Franziska Auer, Ines Gonzalez-Herrero, Idoia Garcia-Ramirez, Sebastian Ginzel, Ralf Thiele, Stefan N. Constantinescu, Christoph Bartenhagen, Martin Dugas, Michael Gombert, Daniel Schafer, Oscar Blanco, Andrea Mayado, Alberto Orfao, Diego Alonso-Lopez, Javier de Las Rivas, Cesar Cobaleda, Maria Begona Garcia-Cenador, Francisco Javier Garcia-Criado, Isidro Sanchez-Garcia, Arndt Borkhardt: Infection Exposure Is a Causal Factor in B-cell Precursor Acute Lymphoblastic Leukemia as a Result of Pax5-Inherited Susceptibility. In: Cancer Discovery, 5(12), 2015, S. 1328-1343
doi:10.1158/2159-8290.CD-15-0892 PMID BibTeX | RIS

Schafiq Nabhani, Sebastian Ginzel, Hagit Miskin, Shoshana Revel-Vilk, Dan Harlev, Bernhard Fleckenstein, Andrea Hönscheid, Prasad T. Oommen, Michaela Kuhlen, Ralf Thiele, Hans-Jürgen Laws, Arndt Borkhardt, Polina Stepensky, Ute Fischer: Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. In: Haematologica, 100(9), 2015, S. 1189-1198
doi:10.3324/haematol.2014.114967 PMID BibTeX | RIS

Ute Fischer, Michael Forster, Anna Rinaldi, Thomas Risch, Stéphanie Sungalee, Hans-Jörg Warnatz, Beat Bornhauser, Michael Gombert, Christina Kratsch, Adrian M. Stütz, Marc Sultan, Joelle Tchinda, Catherine L. Worth, Vyacheslav Amstislavskiy, Nandini Badarinarayan, André Baruchel, Thies Bartram, Giuseppe Basso, Cengiz Canpolat, Gunnar Cario, Hélène Cavé, Dardane Dakaj, Mauro Delorenzi, Maria Pamela Dobay, Cornelia Eckert, Eva Ellinghaus, Sabrina Eugster, Viktoras Frismantas, Sebastian Ginzel, Oskar A. Haas, Olaf Heidenreich, Georg Hemmrich-Stanisak, Kebria Hezaveh, Jessica I. Höll, Sabine Hornhardt, Peter Husemann, Priyadarshini Kachroo, Christian P. Kratz, Geertruy Te Kronnie, Blerim Marovca, Felix Niggli, Alice C. McHardy, Anthony V. Moorman, Renate Panzer-Grümayer, Britt S. Petersen, Benjamin Raeder, Meryem Ralser, Philip Rosenstiel, Daniel Schäfer, Martin Schrappe, Stefan Schreiber, Moritz Schütte, Björn Stade, Ralf Thiele, Nicolas von der Weid, Ajay Vora, Marketa Zaliova, Langhui Zhang, Thomas Zichner, Martin Zimmermann, Hans Lehrach, Arndt Borkhardt, Jean-Pierre Bourquin, Andre Franke, Jan O. Korbel, Martin Stanulla, Marie-Laure Yaspo: Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options. In: Nature Genetics, 47(9), 2015, S. 1020-1029
doi:10.1038/ng.3362 PMID URL BibTeX | RIS

Cai Chen, Christoph Bartenhagen, Michael Gombert, Vera Okpanyi, Vera Binder, Silja Röttgers, Jutta Bradtke, Andrea Teigler-Schlegel, Jochen Harbott, Sebastian Ginzel, Ralf Thiele, Peter Husemann, Pina F.I. Krell, Arndt Borkhardt, Martin Dugas, Jianda Hu, Ute Fischer: Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients. In: Leukemia Research, 39(9), 2015, S. 990-1001
doi:10.1016/j.leukres.2015.06.005 PMID BibTeX | RIS

Jacob Hagen, Heleen te Brinke, Ronald J A Wanders, Alida C. Knegt, Esmee Oussoren, A Jeannette M Hoogeboom, George J G Ruijter, Daniel Becker, Karl Otfried Schwab, Ingo Franke, Marinus Duran, Hans R. Waterham, Jörn Oliver Sass, Sander M. Houten: Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. In: Journal of Inherited Metabolic Disease, 38(5), 2015, S. 873-879
doi:10.1007/s10545-015-9841-9 PMID BibTeX | RIS

Stefanie Löllgen, Hans Weiher: The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. In: Biological Chemistry, 396(1), 2015, S. 13-25
doi:10.1515/hsz-2014-0198 PMID BibTeX | RIS

Donna Kennedy, Afshin Samali, Richard Jäger: Methods for Studying ER Stress and UPR Markers in Human Cells. In: Oslowski (Ed.): Stress responses: Methods and protocols. Methods in Molecular Biology (MIMB), Vol 1292, New York, NY: Humana Press, 2015, S. 3-18
doi:10.1007/978-1-4939-2522-3_1 PMID BibTeX | RIS

Matthias Schoenberger, Mike Althaus, Martin Fronius, Wolfgang Clauss, Dirk Trauner: Controlling epithelial sodium channels with light using photoswitchable amilorides. In: Nature Chemistry, 6(8), 2014, S. 712-719
doi:10.1038/nchem.2004 PMID BibTeX | RIS

Alexandra Erb, Mike Althaus: Actions of Hydrogen Sulfide on Sodium Transport Processes across Native Distal Lung Epithelia (Xenopus laevis). In: PLoS ONE, 9(6), e100971, 2014
doi:10.1371/journal.pone.0100971 PMID BibTeX | RIS

Klaus Deckmann, Katharina Filipski, Gabriela Krasteva-Christ, Martin Fronius, Mike Althaus, Amir Rafiq, Tamara Papadakis, Liane Renno, Innokentij Jurastow, Lars Wessels, Miriam Wolff, Burkhard Schuetz, Eberhard Weihe, Vladimir Chubanov, Thomas Gudermann, Jochen Klein, Thomas Bschleipfer, Wolfgang Kummer: Bitter triggers acetylcholine release from polymodal urethral chemosensory cells and bladder reflexes. In: Proceedings of the National Academy of Sciences of the United States of America, 111(22), 2014, S. 8287-8292
doi:10.1073/pnas.1402436111 PMID BibTeX | RIS

Anna Bell, Mike Althaus, Martin Diener: Communication between mast cells and rat submucosal neurons. In: Pflügers Archiv: European Journal of Physiology, 467(8), 2014, S. 1809-1823
doi:10.1007/s00424-014-1609-9 PMID BibTeX | RIS

Schafiq Nabhani, Sebastian Ginzel, Hagit Miskin, Shoshana Revel-Vilk, Dan Harlev, Bernhard Fleckenstein, Andrea Höhnscheid, Prasad T. Oommen, Michaela Kuhlen, Ralf Thiele, Hans-Jürgen Laws, Arndt Borkhardt, Polina Stepensky, Ute Fischer: Dysregulation of IL12 Signaling As a Novel Cause of an Autoimmune Lymphoproliferative like Syndrome. In: Blood, 124(21), 1420, 2014
doi:10.1182/blood.v124.21.1420.1420 BibTeX | RIS

Marta Torrente, Adriano Guetg, Jörn Oliver Sass, Lisa Arps, Lisa Ruckstuhl, Simone M. R. Camargo, François Verrey: Amino acids regulate transgene expression in MDCK cells. In: PLoS ONE, 9(5), e96823, 2014
doi:10.1371/journal.pone.0096823 PMID BibTeX | RIS

Miriam S. Reuter, Jörn Oliver Sass, Thomas Leis, Julia Köhler, Johannes A. Mayr, René G. Feichtinger, Manfred Rauh, Ina Schanze, Luzy Bähr, Regina Trollmann, Steffen Uebe, Arif B. Ekici, André Reis: HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. In: American Journal of Medical Genetics, Part A, 164(12), 2014, S. 3162-3169
doi:10.1002/ajmg.a.36766 PMID BibTeX | RIS

Alexander Laemmle, Christian Balmer, Carsten Doell, Jörn Oliver Sass, Johannes Häberle, Matthias R. Baumgartner: Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. In: European Journal of Pediatrics, 173(7), 2014, S. 971-974
doi:10.1007/s00431-014-2359-6 PMID BibTeX | RIS

Zsofia Kovacs, Beat Werner, Anahita Rassi, Jörn Oliver Sass, Ernst Martin-Fiori, Michele Bernasconi: Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models. In: Journal of Controlled Release, Vol.187, 2014, S. 74-82
doi:10.1016/j.jconrel.2014.05.033 PMID BibTeX | RIS

Toshiyuki Fukao, Grant Mitchell, Jörn Oliver Sass, Tomohiro Hori, Kenji Orii, Yuka Aoyama: Ketone body metabolism and its defects. In: Journal of Inherited Metabolic Disease, 37(4), 2014, S. 541-551
doi:10.1007/s10545-014-9704-9 PMID BibTeX | RIS

Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. In: Orphanet Journal of Rare Diseases, Vol.9, 130, 2014
doi:10.1186/s13023-014-0130-8 PMID BibTeX | RIS

M. A. Sieber, H. Pietsch, H. Michaely: Nephrogene Systemische Fibrose (NSF). In: Michaely, Schönberg (Hg.): Atlas der MR-Angiographie : Techniken und klinische Anwendung, Berlin, Heidelberg: Springer Medizin, 2014, S. 31
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M. A. Sieber, J. K. E. Hegel: Azelaic Acid: Properties and Mode of Action. In: Skin Pharmacology and Physiology, 27(Suppl 1), 2014, S. 9-17
doi:10.1159/000354888 PMID BibTeX | RIS

Narendiran Rajasekaran, Harald Illges: Matrix Metalloproteinase MMP-9 Promotes K/BxN Serum Induced Arthritis in Mice. In: Open Journal of Rheumatology and Autoimmune Diseases, 4(1), 2014, S. 22-28
PDF Download (CC BY 3.0) doi:10.4236/ojra.2014.41003 urn:nbn:de:hbz:1044-opus-22932 BibTeX | RIS

G. Heisenberg, Y. A. Rezaei, T. Rothdeutsch, W. Heiden: Arm prosthesis simulation on a virtual reality L-shaped workbench display system using a brain computer interface. In: ICDVRAT 2014. 10th International Conference on Disability, Virtual Reality & Associated Technologies. Gothenburg, Sweden, 2–4 Sept. 2014, 2014, S. 109-117
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Wolfgang Heiden: Visualization Issues of Biological and Chemical Models. In: 9th International Conference on Cell- and Stem-Cell Engineering. Aachen, Germany, Sep.11-13, 2014, 2014, S. 26
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Eric Fassbender, Wolfgang Heiden: Atmosphaeres – 360° Video Environments for Stress and Pain Management. In: Ma, Oliveira et al. (Eds.): Serious Games Development and Applications. 5th International Conference, SGDA 2014, Berlin, Germany, October 9-10, 2014, Proceedings. Lecture Notes in Computer Science (LNCS), vol. 8778, 2014, S. 48-58
doi:10.1007/978-3-319-11623-5_5 BibTeX | RIS

Afshin Samali, Richard Jäger: Mechanisms of Resistance to Cell Death Pathways in Cancer Cells. In: McManus, Mitchell (Eds.): Pathobiology of human disease. A dynamic encyclopedia of disease mechanisms, Amsterdam: Academic Press, 2014, S. 393-402
doi:10.1016/B978-0-12-386456-7.01907-9 BibTeX | RIS

Donna Kennedy, Richard Jäger, Dick D. Mosser, Afshin Samali: Regulation of apoptosis by heat shock proteins. In: IUBMB Life, 66(5), 2014, S. 327-338
doi:10.1002/iub.1274 PMID BibTeX | RIS

Patrick F. Connolly, Richard Jäger, Howard O. Fearnhead: New roles for old enzymes: killer caspases as the engine of cell behavior changes. In: Frontiers in Physiology, Vol.5, 149, 2014
PDF Download (CC BY 3.0) doi:10.3389/fphys.2014.00149 PMID urn:nbn:de:hbz:1044-opus-13374 BibTeX | RIS

J. I. Hoell, M. Gombert, S. Ginzel, S. Loth, P. Landgraf, V. Käfer, M. Streiter, A. Prokop, M. Weiss, R. Thiele, A. Borkhardt: Constitutional Mismatch Repair-deficiency and Whole-exome Sequencing as the Means of the Rapid Detection of the Causative MSH6 Defect. In: Klinische Pädiatrie, 226(06/07), 2014, S. 357-361
doi:10.1055/s-0034-1389905 PMID BibTeX | RIS

Yashar Abbasalizadeh Rezaei, Gernot Heisenberg, Wolfgang Heiden: User Interface Design for Disabled People Under the Influence of Time, Efficiency and Costs. In: Junqueira Barbosa, Chen et al. (Eds.): HCI International 2014 - Posters’ Extended Abstracts. International Conference, HCI International 2014, Heraklion, Crete, Greece, June 22-27, 2014. Proceedings, Part II, 2014, S. 197-202
doi:10.1007/978-3-319-07854-0_35 BibTeX | RIS

Matthias Schoenberger, Mike Althaus: Novel small molecule epithelial sodium channel inhibitors as potential therapeutics in cystic fibrosis - a patent evaluation. In: Expert Opinion on Therapeutic Patents, 23(10), 2013, S. 1383-1389
doi:10.1517/13543776.2013.829454 PMID BibTeX | RIS

Mike Althaus, Wolfgang G. Clauss: Gasotransmitters: novel regulators of ion channels and transporters. In: Frontiers in Physiology, Vol.4, 27, 2013
doi:10.3389/fphys.2013.00027 PMID BibTeX | RIS

Mike Althaus: ENaC inhibitors and airway re-hydration in cystic fibrosis: state of the art. In: Current Molecular Pharmacology, 6(1), 2013, S. 3-12
doi:10.2174/18744672112059990025 PMID BibTeX | RIS

Saskia B. Wortmann, Leo A. J. Kluijtmans, Richard J. Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P. van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C. de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S. Alkuraya, Izelle Smuts, Carolus J. Reinecke, Francois H. van der Westhuizen, David Thorburn, Jan A. M. Smeitink, Eva Morava, Ron A. Wevers: 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. In: Journal of Inherited Metabolic Disease, 36(6), 2013, S. 913-921
doi:10.1007/s10545-012-9579-6 PMID BibTeX | RIS

Naeem Shafqat, Kate L. Kavanagh, Jörn Oliver Sass, Ernst Christensen, Toshiyuki Fukao, Wen Hwa Lee, Udo Oppermann, Wyatt W. Yue: A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. In: Journal of Inherited Metabolic Disease, 36(6), 2013, S. 983-987
doi:10.1007/s10545-013-9589-z PMID BibTeX | RIS

Sander M. Houten, Heleen te Brinke, Simone Denis, Jos Pn Ruiter, Alida C. Knegt, Johannis Bc de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R. Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald Ja Wanders, Marinus Duran: Genetic basis of hyperlysinemia. In: Orphanet Journal of Rare Diseases, Vol.8, 2013, S. 57
doi:10.1186/1750-1172-8-57 PMID BibTeX | RIS

Sarah C. Grünert, Pablo Villavicencio-Lorini, Bendicht Wermuth, Willy Lehnert, Jörn Oliver Sass, K. Otfried Schwab: Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. In: Journal of Diabetes & Metabolic Disorders, 12(1), 2013, S. 37
doi:10.1186/2251-6581-12-37 PMID BibTeX | RIS

Sarah C. Grünert, Stephanie Müllerleile, Linda de Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass: Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. In: Orphanet Journal of Rare Diseases, Vol.8, 2013, S. 6
doi:10.1186/1750-1172-8-6 PMID BibTeX | RIS

Sarah C. Grünert, Corinna M. Brichta, Andreas Krebs, Hans-Willi Clement, Reinhold Rauh, Christian Fleischhaker, Klaus Hennighausen, Jörn Oliver Sass, K. Otfried Schwab: Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations. In: Nutrition Journal, Vol.12, 2013, S. 60
doi:10.1186/1475-2891-12-60 PMID BibTeX | RIS

Monica Del Rizzo, Alessandro P. Burlina, Jörn Oliver Sass, Frauke Beermann, Chiara Zanco, Chiara Cazzorla, Andrea Bordugo, Laura Giordano, Renzo Manara, Alberto B. Burlina: Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. In: Molecular Genetics and Metabolism, 108(4), 2013, S. 263-266
doi:10.1016/j.ymgme.2013.01.011 PMID BibTeX | RIS

Viktor A. Czaika, Jan Siebenbrock, Frank Czekalla, Torsten Zuberbier, Martin A. Sieber: Reactive oxygen species and the bacteriostatic and bactericidal effects of isoconazole nitrate. In: Mycoses, 56(Suppl 1), 2013, S. 16-22
doi:10.1111/myc.12055 PMID BibTeX | RIS

Lisa Vincenz, Richard Jäger, Michael O'Dwyer, Afshin Samali: Endoplasmic reticulum stress and the unfolded protein response: targeting the Achilles heel of multiple myeloma. In: Molecular Cancer Therapeutics, 12(6), 2013, S. 831-843
doi:10.1158/1535-7163.MCT-12-0782 PMID BibTeX | RIS

Richard Jäger, Howard O. Fearnhead: Mitochondrial Regulation of Cell-Death. In: Chandra (Ed.): Mitochondria as targets for phytochemicals in cancer prevention and therapy, New York, NY: Springer, 2013, S. 33-60
doi:10.1007/978-1-4614-9326-6_3 BibTeX | RIS

Christopher Volk: OCTs, OATs, and OCTNs: structure and function of the polyspecific organic ion transporters of the SLC22 family. In: Wiley Interdisciplinary Reviews: Membrane Transport and Signaling, 3(1), 2013, S. 1-13
doi:10.1002/wmts.100 BibTeX | RIS

Anjana Singh, Narendiran Rajasekaran, Bettina Hartenstein, Sibylle Szabowski, Mieczyslaw Gajda, Peter Angel, Rolf Bräuer, Harald Illges: Collagenase-3 (MMP-13) deficiency protects C57BL/6 mice from antibody-induced arthritis. In: Arthritis Research & Therapy, 15(6), R222, 2013
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Anjana Singh, Lin Leng, Juan Fan, Mieczyslaw Gajda, Rolf Bräuer, Günter Fingerle-Rowson, Richard Bucala, Harald Illges: Macrophage-derived, macrophage migration inhibitory factor (MIF) is necessary to induce disease in the K/BxN serum-induced model of arthritis. In: Rheumatology International, 33(9), 2013, S. 2301-2308
doi:10.1007/s00296-013-2713-4 PMID BibTeX | RIS

Elisa Nent, David Frommholz, Mieczyslaw Gajda, Rolf Bräuer, Harald Illges: Histamine 4 receptor plays an important role in auto-antibody-induced arthritis. In: International immunology, 25(7), 2013, S. 437-443
doi:10.1093/intimm/dxt008 PMID BibTeX | RIS

Y. Linka, S. Ginzel, M. Krüger, A. Novosel, M. Gombert, E. Kremmer, J. Harbott, R. Thiele, A. Borkhardt, P. Landgraf: The impact of TEL-AML1 (ETV6-RUNX1) expression in precursor B cells and implications for leukaemia using three different genome-wide screening methods. In: Blood Cancer Journal, Vol.3, e151, 2013
PDF Download (CC BY-NC-SA 3.0) doi:10.1038/bcj.2013.48 PMID urn:nbn:de:hbz:1044-opus-10394 BibTeX | RIS

Cai Chen, Christoph Bartenhagen, Michael Gombert, Vera Okpanyi, Vera Binder, Andrea Teigler-Schlegel, Jutta Bradtke, Silja Roettgers, Jochen Harbott, Sebastian Ginzel, Ralf Thiele, Martin Dugas, Jianda Hu, Arndt Borkhardt, Ute Fischer: Chromothripsis-Mediated Structural Variations and Clonal Evolution In Recurrent Childhood High Hyperdiploid Acute Lymphoblastic Leukemia. In: Blood, 122(21), 233, 2013
doi:10.1182/blood.v122.21.233.233 BibTeX | RIS

Cai Chen, Christoph Bartenhagen, Michael Gombert, Vera Okpanyi, Vera Binder, Silja Roettgers, Jutta Bradtke, Andrea Teigler-Schlegel, Jochen Harbott, Sebastian Ginzel, Ralf Thiele, Ute Fischer, Martin Dugas, Jianda Hu, Arndt Borkhardt: Next-generation-sequencing-based risk stratification and identification of new genes involved in structural and sequence variations in near haploid lymphoblastic leukemia. In: Genes, Chromosomes & Cancer, 52(6), 2013, S. 564-579
doi:10.1002/gcc.22054 PMID BibTeX | RIS

Clara E. Jäkel, Karoline Meschenmoser, Young Kim, Hans Weiher, Ingo G. H. Schmidt-Wolf: Efficacy of a proapoptotic peptide towards cancer cells. In: In Vivo, 26(3), 2012, S. 419-426
URL PMID BibTeX | RIS

Richard Jäger, Howard O. Fearnhead: "Dead Cells Talking": The Silent Form of Cell Death Is Not so Quiet. In: Biochemistry Research International, Vol.2012, 453838, 2012
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Anjana Singh, Sebastiaan J. Vastert, Berent J. Prakken, Harald Illges: Decreased levels of sCD21 and sCD23 in blood of patients with systemic-juvenile arthritis, polyarticular-juvenile arthritis, and pauciarticular-juvenile arthritis. In: Rheumatology International, 32(6), 2012, S. 1581-1587
doi:10.1007/s00296-011-1830-1 PMID BibTeX | RIS

Michael Raffelsieper, Birgit Mielenz, Susanne Häußler, Helga Sauerwein, Manfred Mielenz, Harald Illges: A Monoclonal Antibody Against Bovine Adiponectin. In: Hybridoma, 31(6), 2012, S. 465-468
doi:10.1089/hyb.2012.0054 PMID BibTeX | RIS

Hui Zhi Low, Dorothee Hilbrans, Ingo G. H. Schmidt-Wolf, Harald Illges: Enhanced CD21 expression and shedding in chronic lymphatic leukemia: a possible pathomechanism in disease progression. In: International Journal of Hematology, 96(3), 2012, S. 350-356
doi:10.1007/s12185-012-1147-1 PMID BibTeX | RIS

David Frommholz, Harald Illges: Maximal locomotor depression follows maximal ankle swelling during the progression of arthritis in K/BxN mice. In: Rheumatology International, 32(12), 2012, S. 3999-4003
doi:10.1007/s00296-011-2337-5 PMID BibTeX | RIS

Vera Okpanyi, Christoph Bartenhagen, Michael Gombert, Sebastian Ginzel, Pina Fanny Ida Krell, Peter Husemann, Cai Chen, Vera Binder, Jutta Bradtke, Andrea Teigler-Schlegel, Silja Roettgers, Jochen Harbott, Martin Stanulla, Cornelia Eckert, Ralf Thiele, Martin Dugas, Arndt Borkhardt, Ute Fischer: Novel Genomic Structural Variations in Relapsed Childhood ETV6/RUNX1 (TEL/AML1) Acute Lymphoblastic Leukemias Identified by Next Generation Sequencing. In: Blood, 120(21), 2012, S. 518
doi:10.1182/blood.V120.21.518.518 BibTeX | RIS

Gernot Heisenberg, Ramesh K. Natarajan, Yashar A. Rezaei, Nicolas Simon, Wolfgang Heiden: Robust EEG time series transient detection with a momentary frequency estimator for the indication of an emotional change. In: 6th Workshop of Emotion and Computing at the 35th German Conference on Artificial Intelligence (KI 2012), 2012
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Eric Fassbender, Deborah Richards, Ayse Bilgin, William Forde Thompson, Wolfgang Heiden: VirSchool: The effect of background music and immersive display systems on memory for facts learned in an educational virtual environment. In: Computers & Education, 58(1), 2012, S. 490-500
doi:10.1016/j.compedu.2011.09.002 BibTeX | RIS

Patrick Krumm, Teresa Giraldez, Diego Alvarez de la Rosa, Wolfgang G. Clauss, Martin Fronius, Mike Althaus: Thiol-reactive compounds from garlic inhibit the epithelial sodium channel (ENaC). In: Bioorganic & Medicinal Chemistry, 20(13), 2012, S. 3979-3984
doi:10.1016/j.bmc.2012.05.021 PMID BibTeX | RIS

Martin Fronius, Wolfgang G. Clauss, Mike Althaus: Why do we have to move fluid to be able to breathe?. In: Frontiers in Physiology, Vol.3, 146, 2012
doi:10.3389/fphys.2012.00146 PMID BibTeX | RIS

Mike Althaus: Gasotransmitters: novel regulators of epithelial Na+ transport?. In: Frontiers in Physiology, Vol.3, 83, 2012
doi:10.3389/fphys.2012.00083 PMID BibTeX | RIS

Diana Wesch, Mike Althaus, Pablo Miranda, Ignacio Cruz-Muros, Martin Fronius, Tomas Gonzalez-Hernandez, Wolfgang G. Clauss, Diego Alvarez de la Rosa, Teresa Giraldez: Differential N termini in epithelial Na+ channel δ-subunit isoforms modulate channel trafficking to the membrane. In: American Journal of Physiology: Cell physiology, 302(6), 2012
doi:10.1152/ajpcell.00255.2011 PMID BibTeX | RIS

M. Althaus, K. D. Urness, W. G. Clauss, D. L. Baines, M. Fronius: The gasotransmitter hydrogen sulphide decreases Na⁺ transport across pulmonary epithelial cells. In: British Journal of Pharmacology, 166(6), 2012, S. 1946-1963
doi:10.1111/j.1476-5381.2012.01909.x PMID BibTeX | RIS

Michel van Weeghel, Heleen te Brinke, Henk van Lenthe, Wim Kulik, Paul E. Minkler, Maria S. K. Stoll, Jörn Oliver Sass, Uwe Janssen, Wilhelm Stoffel, K. Otfried Schwab, Ronald J. A. Wanders, Charles L. Hoppel, Sander M. Houten: Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids. In: FASEB Journal, 26(10), 2012, S. 4316-4326
doi:10.1096/fj.12-206326 PMID BibTeX | RIS

Carsten Speckmann, Carla Neumann, Stephan Borte, Giancarlo La Marca, Jörn Oliver Sass, Elisabeth Wiech, Paul Fisch, Klaus Schwarz, Bernd Buchholz, Michael Schlesier, Kerstin Felgentreff, Bodo Grimbacher, Ines Santisteban, Pawan Bali, Michael S. Hershfield, Stephan Ehl: Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. In: Journal of Allergy and Clinical Immunology, 130(4), 2012, S. 991-994
doi:10.1016/j.jaci.2012.04.004 PMID BibTeX | RIS

Anke Sommer, Jörn Oliver Sass: Expression of aspartoacylase (ASPA) and Canavan disease. In: Gene, 505(2), 2012, S. 206-210
doi:10.1016/j.gene.2012.06.036 PMID BibTeX | RIS

Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall: Amino acid metabolism in patients with propionic acidaemia. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 65-70
doi:10.1007/s10545-010-9245-9 PMID BibTeX | RIS

Jörn Oliver Sass, Melanie Walter, Julian P. H. Shield, Andrea M. Atherton, Uttam Garg, David Scott, C. Geoffrey Woods, Laurie D. Smith: 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. In: Journal of Inherited Metabolic Disease, 35(3), 2012, S. 437-442
doi:10.1007/s10545-011-9381-x PMID BibTeX | RIS

Jörn Oliver Sass: Inborn errors of ketogenesis and ketone body utilization. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 23-28
doi:10.1007/s10545-011-9324-6 PMID BibTeX | RIS

Jörn Oliver Sass: Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 1
doi:10.1007/s10545-011-9420-7 PMID BibTeX | RIS

Makiko Nakamura, Yamaguchi Yuichiro, Jörn Oliver Sass, Matsumura Tomohiro, Karl Otfried Schwab, Nishino Takeshi, Hosoya Tatsuo, Kimiyoshi Ichida: Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. In: Clinica Chimica Acta, Vol.414, 2012, S. 158-160
doi:10.1016/j.cca.2012.08.011 PMID BibTeX | RIS

J. P. Kraus, E. Spector, S. Venezia, P. Estes, P. W. Chiang, G. Creadon-Swindell, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. Beblo, H. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. van Teeffelen-Heithoff, T. Suormala, M. Ugarte, W. Sperl, A. Superti-Furga, K. O. Schwab, S. C. Grünert, J. O. Sass: Mutation analysis in 54 propionic acidemia patients. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 51-63
doi:10.1007/s10545-011-9399-0 PMID BibTeX | RIS

Sarah Catharina Grünert, Karl Otfried Schwab, Martin Pohl, Jörn Oliver Sass, René Santer: Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. In: Molecular Genetics and Metabolism, 105(3), 2012, S. 433-437
doi:10.1016/j.ymgme.2011.11.200 PMID BibTeX | RIS

S. C. Grünert, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. Beblo, H. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. van Teeffelen-Heithoff, T. Suormala, W. Sperl, J. P. Kraus, A. Superti-Furga, K. O. Schwab, J. O. Sass: Propionic acidemia: neonatal versus selective metabolic screening. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 41-49
doi:10.1007/s10545-011-9419-0 PMID BibTeX | RIS

M. Binder, M. Uhl, T. Wiech, F. Kollert, J. Thiel, J. O. Sass, U. A. Walker, H. H. Peter, K. Warnatz: Cyclophosphamide is a highly effective and safe induction therapy in chronic periaortitis: a long-term follow-up of 35 patients with chronic periaortitis. In: Annals of the Rheumatic Diseases, 71(2), 2012, S. 311-312
doi:10.1136/annrheumdis-2011-200148 PMID BibTeX | RIS

Abdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, Jörn Oliver Sass, Guenter Schwarz: Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. In: JIMD Rep. (JIMD Reports), Vol.5, 2012, S. 35-43
doi:10.1007/8904_2011_89 PMID BibTeX | RIS

Diana C. Lenhard, Hubertus Pietsch, Martin A. Sieber, Rainer Ernst, Philipp Lengsfeld, Peter Ellinghaus, Gregor Jost: The osmolality of nonionic, iodinated contrast agents as an important factor for renal safety. In: Investigative Radiology, 47(9), 2012, S. 503-510
doi:10.1097/RLI.0b013e318258502b PMID BibTeX | RIS

Tom Verfaillie, Richard Jäger, Afshin Samali, Patrizia Agostinis: ER Stress Signaling Pathways in Cell Survival and Death. In: Agostinis, Samali (Eds.): Endoplasmic Reticulum Stress in Health and Disease, Dordrecht: Springer, 2012, S. 41-73
doi:10.1007/978-94-007-4351-9_3 BibTeX | RIS

Sandra J. M. Healy, Tom Verfaillie, Richard Jäger, Patrizia Agostinis, Afshin Samali: Biology of the Endoplasmic Reticulum. In: Agostinis, Samali (Eds.): Endoplasmic Reticulum Stress in Health and Disease, Dordrecht: Springer, 2012, S. 3-22
doi:10.1007/978-94-007-4351-9_1 BibTeX | RIS

Richard Jäger, Mathieu J. M. Bertrand, Adrienne M. Gorman, Peter Vandenabeele, Afshin Samali: The unfolded protein response at the crossroads of cellular life and death during endoplasmic reticulum stress. In: Biology of the Cell, 104(5), 2012, S. 259-270
doi:10.1111/boc.201100055 PMID BibTeX | RIS

Jens Thiel, Lucas Kimmig, Ulrich Salzer, Magdalena Grudzien, Dirk Lebrecht, Tina Hagena, Ruth Draeger, Nadine Voelxen, Nadine Völxen, Astrid Bergbreiter, Stephanie Jennings, Sylvia Gutenberger, Annette Aichem, Harald Illges, Jonathan P. Hannan, Anne-Kathrin Kienzler, Marta Rizzi, Hermann Eibel, Hans-Hartmut Peter, Klaus Warnatz, Bodo Grimbacher, Jörg-Andres Rump, Michael Schlesier: Genetic CD21 deficiency is associated with hypogammaglobulinemia. In: Journal of Allergy and Clinical Immunology, 129(3), 2012, S. 801-810.e6
doi:10.1016/j.jaci.2011.09.027 PMID BibTeX | RIS

Adrienne M. Gorman, Sandra J.M. Healy, Richard Jäger, Afshin Samali: Stress management at the ER: Regulators of ER stress-induced apoptosis. In: Pharmacology & Therapeutics, 134(3), 2012, S. 306-316
doi:10.1016/j.pharmthera.2012.02.003 PMID BibTeX | RIS

R. Zwacka, A. Mohr, I. Herr, H. Weiher: DNA Sequencing. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications, Weinheim: Wiley-Blackwell, 2011, S. 149-152
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H. Weiher, R. Zwacka, I. Herr: Isolation of DNA and RNA. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications, Weinheim: Wiley-Blackwell, 2011, S. 125-128
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H. Weiher, R. Zwacka, I. Herr: Hybridization of Nucleic Acids. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications, Weinheim: Wiley-Blackwell, 2011, S. 133-136
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H. Weiher, R. Zwacka, I. Herr: Chromatography and Electrophoresis of Nucleic Acids. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications, Weinheim: Wiley-Blackwell, 2011, S. 129-132
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A. Mohr, H. Weiher, I. Herr, R. Zwacka: Polymerase Chain Reaction. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications, Weinheim: Wiley-Blackwell, 2011, S. 143-148
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A. Groth, R. Zwacka, H. Weiher, I. Herr: Use of Enzymes in the Modification of Nucleic Acids. In: Wink (Ed.): An Introduction to Molecular Biotechnology. Fundamentals, Methods and Applications, Weinheim: Wiley-Blackwell, 2011, S. 137-142
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David Frommholz, Martina Krämer, Michael Raffelsieper, Harald Illges: Kriminaltechnische Methoden zur Aufklärung von Schussdelikten. In: BIOspektrum, 17(2), 2011, S. 182-184
doi:10.1007/s12268-011-0028-0 BibTeX | RIS

Katja Denninger, Susanne Rasmussen, Jeppe Madura Larsen, Catrine Ørskov, Steen Seier Poulsen, Poul Sørensen, Jan Pravsgaard Christensen, Harald Illges, Niels Ødum, Tord Labuda: JNK1, but Not JNK2, Is Required in Two Mechanistically Distinct Models of Inflammatory Arthritis. In: The American Journal of Pathology, 179(4), 2011, S. 1884-1893
doi:10.1016/j.ajpath.2011.06.019 PMID BibTeX | RIS

Wolfgang Heiden, Monika Turek, Michael J. Schöning: Analysis of Chemical Sensor Data. In: Proceedings of the 4th Russian-German Workshop "Innovation Information Technologies: Theory and Practice". April 2011, 2011, S. 76-81
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Wolfgang Heiden, Monika Turek, Michael J. Schöning: TasteIT - Analyzing Chemical Sensor Data Using Fuzzy Logic. In: IEEE Workshop On Merging Fields Of Computational Intelligence And Sensor Technology (CompSens), 11-15 April 2011, Paris, 2011
doi:10.1109/MFCIST.2011.5949520 BibTeX | RIS

Gernot Goebbels, Martin Göbel, André Hinkenjann, Wolfgang Heiden, Marco Winzker, Rainer Herpers, Robert Scholl, Dietmar Reinert: Institute of Visual Computing at the Bonn-Rhine-Sieg University of Applied Sciences, Germany. In: SBC Journal on 3D Interactive Systems, 2(2), 2011, S. 32-35
PDF Download (CC BY 4.0) doi:10.5753/jis.2011.574 urn:nbn:de:hbz:1044-opus-8151 BibTeX | RIS

Mike Althaus, Alexandra Pichl, Wolfgang G. Clauss, Werner Seeger, Martin Fronius, Rory E. Morty: Nitric Oxide Inhibits Highly Selective Sodium Channels and the Na+/K+-ATPase in H441 Cells. In: American Journal of Respiratory Cell and Molecular Biology, 44(1), 2011, S. 53-65
doi:10.1165/2009-0335OC PMID BibTeX | RIS

Mike Althaus, Wolfgang G. Clauss, Martin Fronius: Amiloride-sensitive sodium channels and pulmonary edema. In: Pulmonary Medicine, Vol.2011, 830320, 2011
doi:10.1155/2011/830320 PMID BibTeX | RIS

Lukas Hyzak, Rebecca Moos, Friederike von Rath, Volker Wulf, Michaela Wirtz, David Melchior, Hans-Willi Kling, Michael Kohler, Siegmar Gab, Oliver J. Schmitz: Quantitative matrix-assisted laser desorption ionization-time-of-flight mass spectrometry analysis of synthetic polymers and peptides. In: Analytical Chemistry, 83(24), 2011, S. 9467-9471
doi:10.1021/ac2021739 PMID BibTeX | RIS

Annett Opitz, Michaela Wirtz, David Melchior, Annette Mehling, Hans-Willi Kling, Reinhard H. H. Neubert: Improved Method for Stratum Corneum Lipid Analysis by Automated Multiple Development HPTLC. In: Chromatographia, 73(5-6), 2011, S. 559-565
doi:10.1007/s10337-011-1913-x BibTeX | RIS

Lisenka E. L. M. Vissers, Virginia Fano, Diego Martinelli, Belinda Campos-Xavier, Domenico Barbuti, Tae-Joon Cho, Ahmet Dursun, Ok Hwa Kim, Sun Hee Lee, Giuseppina Timpani, Gen Nishimura, Sheila Unger, Jörn Oliver Sass, Joris A. Veltman, Han G. Brunner, Luisa Bonafé, Carlo Dionisi-Vici, Andrea Superti-Furga: Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). In: American Journal of Medical Genetics, Part A, 155(11), 2011, S. 2609-2616
doi:10.1002/ajmg.a.34325 PMID BibTeX | RIS

Anke Sommer, Ernst Christensen, Susanne Schwenger, Ralf Seul, Dorothea Haas, Heike Olbrich, Heymut Omran, Jörn Oliver Sass: The molecular basis of aminoacylase 1 deficiency. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1812(6), 2011, S. 685-690
doi:10.1016/j.bbadis.2011.03.005 PMID BibTeX | RIS

Jörn Oliver Sass: Selective screening for inborn errors of metabolism--assessment of metabolites in body fluids. In: Clinical Biochemistry, 44(7), 2011, S. 474-475
doi:10.1016/j.clinbiochem.2011.03.017 PMID BibTeX | RIS

Sarah Catharina Grünert, Brian Fowler, Andrea Superti-Furga, Jörn Oliver Sass, Karl Otfried Schwab: Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. In: Brain and Development, 33(5), 2011, S. 432-436
doi:10.1016/j.braindev.2010.07.012 PMID BibTeX | RIS

Toshiyuki Fukao, Jörn Oliver Sass, Petri Kursula, Eva Thimm, Udo Wendel, Can Ficicioglu, Kamel Monastiri, Nathalie Guffon, Ivo Barić, Marie-Therese Zabot, Naomi Kondo: Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1812(5), 2011, S. 619-624
doi:10.1016/j.bbadis.2011.01.015 PMID BibTeX | RIS

Gregor Jost, Diana C. Lenhard, Martin A. Sieber, Philipp Lengsfeld, Joachim Hütter, Hubertus Pietsch: Changes of renal water diffusion coefficient after application of iodinated contrast agents: effect of viscosity. In: Investigative Radiology, 46(12), 2011, S. 796-800
doi:10.1097/RLI.0b013e31822b1272 PMID BibTeX | RIS

Gregor Jost, Philipp Lengsfeld, Diana C. Lenhard, Hubertus Pietsch, Joachim Hütter, Martin A. Sieber: Viscosity of iodinated contrast agents during renal excretion. In: European Journal of Radiology, 80(2), 2011, S. 373-377
doi:10.1016/j.ejrad.2011.02.003 PMID BibTeX | RIS

Hubertus Pietsch, Marian Raschke, Heidrun Ellinger-Ziegelbauer, Gregor Jost, Jakob Walter, Thomas Frenzel, Diana Lenhard, Joachim Hütter, Martin A. Sieber: The role of residual gadolinium in the induction of nephrogenic systemic fibrosis-like skin lesions in rats. In: Investigative Radiology, 46(1), 2011, S. 48-56
doi:10.1097/RLI.0b013e3181efd49a PMID BibTeX | RIS

Hubertus Pietsch, Gregor Jost, Thomas Frenzel, Marian Raschke, Jakob Walter, Heiko Schirmer, Joachim Hütter, Martin A. Sieber: Efficacy and safety of lanthanoids as X-ray contrast agents. In: European Journal of Radiology, 80(2), 2011, S. 349-356
doi:10.1016/j.ejrad.2009.10.023 PMID BibTeX | RIS

Lisa Vincenz, Eva Szegezdi, Richard Jäger, Caitriona Holohan, Timothy O’Brien, Afshin Samali: Cytokine-Induced β-Cell Stress and Death in Type 1 Diabetes Mellitus. In: Liu (Ed.): Type 1 Diabetes - Complications, Pathogenesis, and Alternative Treatments, London: InTech, 2011, S. 213-240
doi:10.5772/22765 BibTeX | RIS

Wolfgang Heiden: Augmented Perception for Diagnosis and Orientation Support: Artificial sensors and their application in medicine and navigation. In: Proceedings of the 1st International :envihab Symposium. May 22-24, 2011, Köln, Germany, 2011
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Wolfgang Heiden, Matthias Räder, Eric Fassbender: Interactive Storytelling in Academic Teaching. In: Aylett et al. (Eds.): Interactive Storytelling. Third Joint Conference on Interactive Digital Storytelling, ICIDS 2010, Edinburgh, UK, November 1-3, 2010, Proceedings. Lecture Notes in Computer Science, Vol. 6432, 2010, S. 216-221
doi:10.1007/978-3-642-16638-9_27 BibTeX | RIS

Monika Turek, Wolfgang Heiden, Sharon Guo, Alfred Riesen, Jürgen Schubert, Willi Zander, Peter Krüger, Michael Keusgen, Michael J. Schöning: Simultaneous detection of cyanide and heavy metals for environmental analysis by means of µISEs. In: Physica Status Solidi: A, Applications and Materials Science, 207(4), 2010, S. 817-823
doi:10.1002/pssa.200983303 BibTeX | RIS

Wolfgang Heiden, Eric Fassbender: An Edutainment Approach to Academic Teaching Based on Storytelling. In: CSEDU 2010. Proceedings of the 2nd International Conference on Computer Supported Education. Valencia, Spain, April 7-10, 2010, Vol. 2, 2010, S. 126-131
doi:10.5220/0002796301260131 BibTeX | RIS

Diana Wesch, Pablo Miranda, Domingo Afonso-Oramas, Mike Althaus, Javier Castro-Hernandez, Jaime Dominguez, Rory E. Morty, Wolfgang Clauss, Tomas Gonzalez-Hernandez, Diego Alvarez de la Rosa, Teresa Giraldez: The neuronal-specific SGK1.1 kinase regulates δ-epithelial Na+ channel independently of PY motifs and couples it to phospholipase C signaling. In: American Journal of Physiology: Cell physiology, 299(4), 2010, S. C779-C790
doi:10.1152/ajpcell.00184.2010 PMID BibTeX | RIS

Martin Fronius, Roman Bogdan, Mike Althaus, Rory E. Morty, Wolfgang G. Clauss: Epithelial Na+ channels derived from human lung are activated by shear force. In: Respiratory Physiology & Neurobiology, 170(1), 2010, S. 113-119
doi:10.1016/j.resp.2009.11.004 PMID BibTeX | RIS

Roman Duck, Volker Wulf, Margit Geissler, Hans-Ulrich Baier, Michaela Wirtz, Hans-Willi Kling, Siegmar Gab, Oliver J. Schmitz: Combination of chemical and electron-impact ionisation with GC x GC-qMS for characterization of fatty alcohol alkoxylate polymers in the low-molecular-weight range up to 700 Da. In: Analytical and Bioanalytical Chemistry, 396(6), 2010, S. 2273-2283
doi:10.1007/s00216-009-3434-0 PMID BibTeX | RIS

Volker Wulf, Nils Wienand, Michaela Wirtz, Hans-Willi Kling, Siegmar Gab, Oliver J. Schmitz: Analysis of special surfactants by comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry. In: Journal of Chromatography A, 1217(5), 2010, S. 749-754
doi:10.1016/j.chroma.2009.11.093 PMID BibTeX | RIS

André B. P. van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean-François Benoist, Birgit Assmann, Susanne Schubert, Georg F. Hoffmann, Marinus Duran, Maaike C. de Vries, Gerd Kurlemann, François J. M. Eyskens, Lawrence Greed, Jörn Oliver Sass, K. Otfried Schwab, Adrian C. Sewell, John Walter, Andreas Hahn, Lida Zoetekouw, Antonia Ribes, Suzanne Lind, Raoul C. M. Hennekam: Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1802(7-8), 2010, S. 639-648
doi:10.1016/j.bbadis.2010.03.013 PMID BibTeX | RIS

A. B. P. van Kuilenburg, J. Meijer, G. Gökcay, T. Baykal, M. E. Rubio-Gozalbo, A. N. P. M. Mul, C. E. M. de Die-Smulders, P. Weber, A. Capone Mori, J. Bierau, B. Fowler, K. Macke, J. O. Sass, R. Meinsma, J. B. Hennermann, P. Miny, L. Zoetekouw, J. Roelofsen, R. Vijzelaar, J. Nicolai, R. C. M. Hennekam: Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD. In: Nucleosides, Nucleotides & Nucleic Acids, 29(4-6), 2010, S. 509-514
doi:10.1080/15257771003730227 PMID BibTeX | RIS

Anna Tylki-Szymanska, Wanda Gradowska, Anke Sommer, Angelina Heer, Melanie Walter, Christina Reinhard, Heymut Omran, Jörn Oliver Sass, Agnieszka Jurecka: Aminoacylase 1 deficiency associated with autistic behavior. In: Journal of Inherited Metabolic Disease, 33(Suppl 3), 2010, S. 211-214
doi:10.1007/s10545-010-9089-3 PMID BibTeX | RIS

Sabine Scholl-Bürgi, Jörn Oliver Sass, Peter Heinz-Erian, Edda Amann, Edda Haberlandt, Ursula Albrecht, Claudia Ertl, Sara Baumgartner Sigl, Florian Lagler, Kevin Rostasy, Daniela Karall: Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. In: Amino Acids, 38(5), 2010, S. 1473-1481
doi:10.1007/s00726-009-0356-2 PMID BibTeX | RIS

Jörn Oliver Sass, Aysegul Gunduz, Carolina Araujo Rodrigues Funayama, Baris Korkmaz, Kylvia Giselle Dantas Pinto, Beyhan Tuysuz, Letícia Yanasse Dos Santos, Emine Taskiran, Marlene de Fátima Turcato, Ching-Wan Lam, Jochen Reiss, Melanie Walter, Cengiz Yalcinkaya, José Simon Camelo Junior: Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. In: Brain and Development, 32(7), 2010, S. 544-549
doi:10.1016/j.braindev.2009.09.005 PMID BibTeX | RIS

Jörn Oliver Sass, Kathleen Fischer, Raymond Wang, Ernst Christensen, Sabine Scholl-Bürgi, Richard Chang, Klaus Kapelari, Melanie Walter: D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). In: Human Mutation, 31(12), 2010, S. 1280-1285
doi:10.1002/humu.21375 PMID BibTeX | RIS

Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, Sven Sauer, Zdenka Djuric, Cordula Rumig, Nicole I. Wolf, Jürgen G. Okun, Stefan Kölker, Heinz Schwarz, Christine Fischer, Beate Grziwa, Heiko Runz, Astrid Nümann, Naeem Shafqat, Kathryn L. Kavanagh, Günter Hämmerling, Ronald J. A. Wanders, Julian P. H. Shield, Udo Wendel, David Stern, Peter Nawroth, Georg F. Hoffmann, Claus R. Bartram, Bernd Arnold, Angelika Bierhaus, Udo Oppermann, Herbert Steinbeisser, Johannes Zschocke: A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. In: EMBO Molecular Medicine, 2(2), 2010, S. 51-62
doi:10.1002/emmm.200900055 PMID BibTeX | RIS

Manuela Popek, Melanie Walter, Malkanthi Fernando, Martin Lindner, Karl Otfried Schwab, Jörn Oliver Sass: Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria. In: Clinica Chimica Acta, 411(23-24), 2010, S. 2087-2091
doi:10.1016/j.cca.2010.09.006 PMID BibTeX | RIS

N. Janzen, S. Sander, M. Terhardt, A. M. Das, J. O. Sass, R. Kraetzner, H. Rosewich, H. Rosevich, M. Peter, J. Sander: Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum. In: J Lipid Res. (Journal of Lipid Research), 51(6), 2010, S. 1591-1598
doi:10.1194/jlr.D003814 PMID BibTeX | RIS

I. Höliner, B. Simma, A. Reiter, J. O. Sass, J. Zschocke, M. Huemer: Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening. In: Klinische Pädiatrie, 222(1), 2010, S. 35-37
doi:10.1055/s-0029-1239525 PMID BibTeX | RIS

Sarah Grünert, Miriam Schmidts, Sybille Kenzel, Jörn Oliver Sass, Peter Greiner, Martin Pohl, Roland Hentschel: D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome. In: Journal of Pediatric Gastroenterology and Nutrition, 50(1), 2010, S. 106-107
doi:10.1097/MPG.0b013e3181c48cde PMID BibTeX | RIS

Thomas Steger-Hartmann, Rainer Hofmeister, Rainer Ernst, Hubertus Pietsch, Martin A. Sieber, Jacob Walter: A review of preclinical safety data for magnevist (gadopentetate dimeglumine) in the context of nephrogenic systemic fibrosis. In: Investigative Radiology, 45(9), 2010, S. 520-528
doi:10.1097/RLI.0b013e3181e960c9 PMID BibTeX | RIS

Gregor Jost, Hubertus Pietsch, Philipp Lengsfeld, Joachim Hütter, Martin A. Sieber: The impact of the viscosity and osmolality of iodine contrast agents on renal elimination. In: Investigative Radiology, 45(5), 2010, S. 255-261
doi:10.1097/RLI.0b013e3181d4a036 PMID BibTeX | RIS

Florian F. Behrendt, Hubertus Pietsch, Gregor Jost, Martin A. Sieber, Sebastian Keil, Cedric Plumhans, Peter Seidensticker, Rolf W. Günther, Andreas H. Mahnken: Intra-individual comparison of different contrast media concentrations (300 mg, 370 mg and 400 mg iodine) in MDCT. In: European Radiology, 20(7), 2010, S. 1644-1650
doi:10.1007/s00330-010-1717-7 PMID BibTeX | RIS

Richard Jäger, Ralf M. Zwacka: The enigmatic roles of caspases in tumor development. In: Cancers, 2(4), 2010, S. 1952-1979
doi:10.3390/cancers2041952 PMID BibTeX | RIS

Verena Thewes, Francesca Orso, Richard Jäger, Dawid Eckert, Sabine Schäfer, Gregor Kirfel, Stephan Garbe, Daniela Taverna, Hubert Schorle: Interference with activator protein-2 transcription factors leads to induction of apoptosis and an increase in chemo- and radiation-sensitivity in breast cancer cells. In: BMC Cancer, Vol.10, 2010, S. 192
doi:10.1186/1471-2407-10-192 PMID BibTeX | RIS

Richard Jäger, Sabine Schäfer, Mathilde Hau-Liersch, Hubert Schorle: Loss of transcription factor AP-2gamma/TFAP2C impairs branching morphogenesis of the murine mammary gland. In: Dev Dyn. (Developmental Dynamics), 239(3), 2010, S. 1027-1033
doi:10.1002/dvdy.22239 PMID BibTeX | RIS

Anjana Singh, Miri Blank, Yehuda Shoenfeld, Harald Illges: Antiphospholipid Syndrome Patients Display Reduced Titers of Soluble CD21 in Their Sera Irrespective of Circulating Anti-β2-Glycoprotein-I Autoantibodies. In: Zacharias, terHorst et al. (Hg.): Forschungsspitzen und Spitzenforschung. Innovationen an der FH Bonn-Rhein-Sieg, Festschrift für Wulf Fischer, Heidelberg: Physica-Verlag, 2009, S. 339-348
doi:10.1007/978-3-7908-2127-7_30 BibTeX | RIS

Narendiran Rajasekaran, Samuel Solomon, Takeshi Watanabe, Hiroshi Ohtsu, Mieczyslaw Gajda, Rolf Bräuer, Harald Illges: Histidine decarboxylase but not histamine receptor 1 or 2 deficiency protects from K/BxN serum-induced arthritis. In: International Immunology, 21(11), 2009, S. 1263-1268
doi:10.1093/intimm/dxp092 PMID BibTeX | RIS

Mike Kienbaum, Cornelia Koy, Helen V. Montgomery, Susanne Drynda, Peter Lorenz, Harald Illges, Koichi Tanaka, Joern Kekow, Reinhard Guthke, Hans-Juergen Thiesen, Michael O. Glocker: MS characterization of apheresis samples from rheumatoid arthritis patients for the improvement of immunoadsorption therapy – a pilot study. In: Proteomics: Clinical Applications, 3(7), 2009, S. 797-809
doi:10.1002/prca.200800232 PMID BibTeX | RIS

Melanie M. Hoefer, Harald Illges: Ectodomain shedding and generation of two carboxy-terminal fragments of human complement receptor 2/CD21. In: Molecular Immunology, 46(13), 2009, S. 2630-2639
doi:10.1016/j.molimm.2009.04.036 PMID BibTeX | RIS

Mike Althaus, Martin Fronius, Yasmin Buchaeckert, Istvan Vadasz, Wolfgang G. Clauss, Werner Seeger, Roberto Motterlini, Rory E. Morty: Carbon Monoxide Rapidly Impairs Alveolar Fluid Clearance by Inhibiting Epithelial Sodium Channels. In: American Journal of Respiratory Cell and Molecular Biology, 41(6), 2009, S. 639-650
doi:10.1165/rcmb.2008-0458OC PMID BibTeX | RIS

Wolfgang Heiden, Rainer Herpers, André Hinkenjann: Visual Computing an der FH Bonn-Rhein-Sieg. In: Zacharias, terHorst et al. (Hg.): Forschungsspitzen und Spitzenforschung. Innovationen an der FH Bonn-Rhein-Sieg, Festschrift für Wulf Fischer, Heidelberg: Physica-Verlag, 2009, S. 69-76
doi:10.1007/978-3-7908-2127-7_7 BibTeX | RIS

Rainer Herpers, Wolfgang Heiden, Michael Kutz, David Scherfgen, Ulrich Hartmann, Jens Bongartz, Oliver Schulzyk: FIVIS – Bicycle Simulator in the Immersive Visualisation Environment "Immersion Square". In: Zacharias, terHorst et al. (Hg.): Forschungsspitzen und Spitzenforschung. Innovationen an der FH Bonn-Rhein-Sieg, Festschrift für Wulf Fischer, Heidelberg: Physica-Verlag, 2009, S. 61-68
doi:10.1007/978-3-7908-2127-7_6 BibTeX | RIS

Rainer Herpers, Wolfgang Heiden, Michael Kutz, David Scherfgen: Immersion Square - A Cost-Effective Multi-Screen VR Visualisation Technology. In: electronic displays, March 2009, Nuremberg, Germany, 2009
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M. Turek, W. Heiden, A. Riesen, T. A. Chhabda, J. Schubert, W. Zander, P. Krüger, M. Keusgen, M. J. Schöning: Artificial intelligence/fuzzy logic method for analysis of combined signals from heavy metal chemical sensors. In: Electrochimica Acta, 54(25), 2009, S. 6082-6088
doi:10.1016/j.electacta.2009.03.035 BibTeX | RIS

Christian Weiland, Anne-Kathrin Braun, Wolfgang Heiden: Colorimetric and Photometric Compensation for Optical See-Through Displays. In: Stephanidis (Ed.): Universal Access in Human-Computer Interaction. 5th International Conference, UAHCI 2009, held as Part of HCI International 2009, San Diego, CA, USA, July 19-24, 2009. Proceedings, Part II, 2009, S. 603-612
doi:10.1007/978-3-642-02710-9_67 BibTeX | RIS

André B. P. van Kuilenburg, Judith Meijer, Adri N. P. M. Mul, Raoul C. M. Hennekam, Jan M. N. Hoovers, Christine E. M. de Die-Smulders, Peter Weber, Andrea Capone Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B. Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M. Estela Rubio-Gozalbo: Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). In: Human Genetics, 125(5-6), 2009, S. 581-590
doi:10.1007/s00439-009-0653-6 PMID BibTeX | RIS

Jörn Oliver Sass, Janet S. Romrell, Sarah Y. Vinson, Hubert H. Fernandez, Judith Fischer, Ramon L. Rodriguez, Michael S. Okun: Tracing the origin of L-2-hydroxyglutaric aciduria in a family. In: International Journal of Neuroscience, 119(11), 2009, S. 2118-2123
doi:10.1080/00207450903139655 PMID BibTeX | RIS

Hala Mégarbané, Jobard Florence, Jörn Oliver Sass, Susanne Schwonbeck, Mario Foglio, Rafael de Cid, Susan Cure, Safa Saker, André Mégarbané, Judith Fischer: An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. In: The Journal of Investigative Dermatology, 129(7), 2009, S. 1650-1655
doi:10.1038/jid.2008.450 PMID BibTeX | RIS

G. Haliloglu, C. M. Temucin, K. K. Oguz, A. Celiker, T. Coskun, J. O. Sass, J. Fischer, M. Topcu: Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria. In: Journal of Inherited Metabolic Disease, 32(Suppl 1), 2009, S. 21-25
doi:10.1007/s10545-009-0933-2 PMID BibTeX | RIS

Berend Feddersen, Larissa de La Fontaine, Jörn Oliver Sass, Jurgen Lutz, Angela Abicht, Thomas Klopstock, Ishwar Chander Verma, Eva Meisenzahl, Oliver Pogarell: Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa. In: American Journal of Psychiatry, 166(4), 2009, S. 494-495
doi:10.1176/appi.ajp.2008.08101525 PMID BibTeX | RIS

Afshin Borhani Haghighi, Ali Nabavizadeh, Jörn Oliver Sass, Anahid Safari, Kamran B. Lankarani: Mitochondrial neurogastrointestinal encephalomyopathy. In: Archives of Iranian Medicine, 12(6), 2009, S. 588-590
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Martin A. Sieber: Pharmaceutical and safety aspects of gadolinium-based contrast agents. In: EJHP Practice, 15(6), 2009, S. 24-26
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Martin A. Sieber, Thomas Steger-Hartmann, Philipp Lengsfeld, Hubertus Pietsch: Gadolinium-based contrast agents and NSF: evidence from animal experience. In: Journal of Magnetic Resonance Imaging, 30(6), 2009, S. 1268-1276
doi:10.1002/jmri.21971 PMID BibTeX | RIS

Hubertus Pietsch, Christiane Pering, Philipp Lengsfeld, Jakob Walter, Thomas Steger-Hartmann, Sven Golfier, Thomas Frenzel, Joachim Hütter, Hans-Joachim Weinmann, Martin A. Sieber: Evaluating the role of zinc in the occurrence of fibrosis of the skin: a preclinical study. In: Journal of Magnetic Resonance Imaging, 30(2), 2009, S. 374-383
doi:10.1002/jmri.21845 PMID BibTeX | RIS

Hubertus Pietsch, Philipp Lengsfeld, Thomas Steger-Hartmann, Andrea Löwe, Thomas Frenzel, Joachim Hütter, Martin A. Sieber: Impact of renal impairment on long-term retention of gadolinium in the rodent skin following the administration of gadolinium-based contrast agents. In: Investigative Radiology, 44(4), 2009, S. 226-233
doi:10.1097/RLI.0b013e3181998eb7 PMID BibTeX | RIS

Gregor Jost, Hubertus Pietsch, Janine Sommer, Peter Sandner, Philipp Lengsfeld, Peter Seidensticker, Stephan Lehr, Joachim Hütter, Martin A. Sieber: Retention of iodine and expression of biomarkers for renal damage in the kidney after application of iodinated contrast media in rats. In: Investigative Radiology, 44(2), 2009, S. 114-123
doi:10.1097/RLI.0b013e318190fbd2 PMID BibTeX | RIS

Hubertus Pietsch, Philipp Lengsfeld, Gregor Jost, Thomas Frenzel, Joachim Hütter, Martin A. Sieber: Long-term retention of gadolinium in the skin of rodents following the administration of gadolinium-based contrast agents. In: European Radiology, 19(6), 2009, S. 1417-1424
doi:10.1007/s00330-008-1259-4 PMID BibTeX | RIS

Robert Storm, Justyna Cholewa-Waclaw, Katja Reuter, Dominique Bröhl, Martin Sieber, Mathias Treier, Thomas Müller, Carmen Birchmeier: The bHLH transcription factor Olig3 marks the dorsal neuroepithelium of the hindbrain and is essential for the development of brainstem nuclei. In: Development, 136(2), 2009, S. 295-305
doi:10.1242/dev.027193 PMID BibTeX | RIS

T. Steger-Hartmann, M. Raschke, B. Riefke, H. Pietsch, M. A. Sieber, J. Walter: The involvement of pro-inflammatory cytokines in nephrogenic systemic fibrosis - a mechanistic hypothesis based on preclinical results from a rat model treated with gadodiamide. In: Experimental and Toxicologic Pathology, 61(6), 2009, S. 537-552
doi:10.1016/j.etp.2008.11.004 PMID BibTeX | RIS

Andreas H. Mahnken, Gregor Jost, Philipp Bruners, Martin Sieber, Peter R. Seidensticker, Rolf W. Günther, Hubertus Pietsch: Multidetector computed tomography (MDCT) evaluation of myocardial viability: intraindividual comparison of monomeric vs. dimeric contrast media in a rabbit model. In: European Radiology, 19(2), 2009, S. 290-297
doi:10.1007/s00330-008-1150-3 PMID BibTeX | RIS

Patricia Kurth, Anne Moenning, Richard Jäger, Gaby Beine, Hubert Schorle: An activating mutation in the PDGF receptor alpha results in embryonic lethality caused by malformation of the vascular system. In: Developmental Dynamics, 238(5), 2009, S. 1064-1072
doi:10.1002/dvdy.21939 PMID BibTeX | RIS

Francesca Orso, Richard Jäger, Raffaele Adolfo Calogero, Hubert Schorle, Piero Sismondi, Michele de Bortoli, Daniela Taverna: AP-2alpha regulates migration of GN-11 neurons via a specific genetic programme involving the Axl receptor tyrosine kinase. In: BMC Biology, Vol.7, 2009, S. 25
doi:10.1186/1741-7007-7-25 PMID BibTeX | RIS

Anne Moenning, Richard Jäger, Angela Egert, Wolfram Kress, Eva Wardelmann, Hubert Schorle: Sustained platelet-derived growth factor receptor alpha signaling in osteoblasts results in craniosynostosis by overactivating the phospholipase C-gamma pathway. In: Molecular and Cellular Biology, 29(3), 2009, S. 881-891
doi:10.1128/MCB.00885-08 PMID BibTeX | RIS

Lawrence Rajendran, Julia Beckmann, Astrid Magenau, Eva-Maria Boneberg, Katharina Gaus, Antonella Viola, Bernd Giebel, Harald Illges: Flotillins Are Involved in the Polarization of Primitive and Mature Hematopoietic Cells. In: PLoS ONE, 4(12), e8290, 2009, S. 1-12
PDF Download (CC BY 3.0) doi:10.1371/journal.pone.0008290 PMID urn:nbn:de:hbz:1044-opus-36792 BibTeX | RIS

Eva-Maria Boneberg, Harald Illges, Daniel F. Legler, Gregor Fürstenberger: Soluble CD146 is generated by ectodomain shedding of membrane CD146 in a calcium-induced, matrix metalloprotease-dependent process. In: Microvascular Research, 78(3), 2009, S. 325-331
doi:10.1016/j.mvr.2009.06.012 PMID BibTeX | RIS

Johannes Schenkel, Hans Weiher, Gerhard Fürstenberger, Richard Jäger: Suprabasal BCL-2 Expression Does Not Sensitize to Chemically-induced Skin Cancer in Transgenic Mice. In: Anticancer Research, 28(5A), 2008, S. 2825-2829
URL PMID BibTeX | RIS

Anjana Singh, Miri Blank, Yehuda Shoenfeld, Harald Illges: Antiphospholipid syndrome patients display reduced titers of soluble CD21 in their sera irrespective of circulating anti-β2-glycoprotein-I autoantibodies. In: Rheumatology International, 28(7), 2008, S. 661-665
doi:10.1007/s00296-007-0503-6 PMID BibTeX | RIS

Madhan Masilamani, Narendiran Rajasekaran, Anjana Singh, Hui-Zhi Low, Kerstin Albus, Swantje Anders, Frank Behne, Peter Eiermann, Katharina Koenig, Clarissa Mindnich, Teodora Ribarska, Harald Illges: Systemic reduction of soluble complement receptor II/CD21 during pregnancy to levels reminiscent of autoimmune disease. In: Rheumatology International, 28(11), 2008, S. 1137-1141
doi:10.1007/s00296-008-0604-x PMID BibTeX | RIS

Robert Pesch, Artem Lysenko, Matthew Hindle, Keywan Hassani-Pak, Ralf Thiele, Christopher Rawlings, Jacob Köhler, Jan Taubert: Graph-based sequence annotation using a data integration approach. In: Journal of Integrative Bioinformatics, 5(2), 2008, S. 58-72
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R. Herpers, W. Heiden, M. Kutz, D. Scherfgen, U. Hartmann, J. Bongartz, O. Schulzyk: FIVIS Bicycle Simulator - An Immersive Game Plattform for Physical Activities. In: Future Play '08. Proceedings of the 2008 Conference on Future Play: Research, Play, Share. November 3-5, 2008, Toronto, Ontario, Canada, 2008, S. 244-247
doi:10.1145/1496984.1497035 BibTeX | RIS

Christian Weiland, Anne-Kathrin Braun, Wolfgang Heiden: Colorimetric and Photometric Compensation for See-Through Displays. In: ACM SIGGRAPH 2008 Posters. Special Interest Group on Computer Graphics and Interactive Techniques Conference. Los Angeles, CA, USA, August 11-15, 2008, 61, 2008
doi:10.1145/1400885.1400951 BibTeX | RIS

S. Scholl-Bürgi, S. H. Korman, D. A. Applegarth, D. Karall, Y. Lillquist, P. Heinz-Erian, A. G. F. Davidson, E. Haberlandt, J. O. Sass: The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'. In: Journal of Inherited Metabolic Disease, 31(3), 2008, S. 395-398
doi:10.1007/s10545-008-0796-y PMID BibTeX | RIS

Jörn Oliver Sass, Regina Ensenauer, Wulf Röschinger, Horst Reich, Ulrike Steuerwald, Oliver Schirrmacher, Katharina Engel, Johannes Häberle, Brage Storstein Andresen, André Mégarbané, Willy Lehnert, Johannes Zschocke: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. In: Molecular Genetics and Metabolism, 93(1), 2008, S. 30-35
doi:10.1016/j.ymgme.2007.09.002 PMID BibTeX | RIS

J. O. Sass, F. Jobard, M. Topçu, A. Mahfoud, E. Werlé, S. Cure, N. Al-Sannaa, S. A. Alshahwan, M. Bataillard, L. Cimbalistiene, C. Grolik, V. Kemmerich, H. Omran, L. Sztriha, M. Tabache, J. Fischer: L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene. In: Journal of Inherited Metabolic Disease, 31(Suppl 2), 2008, S. 275-279
doi:10.1007/s10545-008-0855-4 PMID BibTeX | RIS

G. Haliloglu, F. Jobard, K. K. Oguz, B. Anlar, N. Akalan, T. Coskun, J. O. Sass, J. Fischer, M. Topcu: L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. In: Neuropediatrics, 39(2), 2008, S. 119-122
doi:10.1055/s-2008-1081217 PMID BibTeX | RIS

Udo F. H. Engelke, Jörn Oliver Sass, Rudy N. van Coster, Erik Gerlo, Heike Olbrich, Stefan Krywawych, Jacqui Calvin, Claire Hart, Heymut Omran, Ron A. Wevers: NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. In: NMR Biomed. (NMR in Biomedicine), 21(2), 2008, S. 138-147
doi:10.1002/nbm.1170 PMID BibTeX | RIS

M. A. Sieber, P. Lengsfeld, H. Pietsch: Response to editorial: animal models for nephrogenic systemic fibrosis. In: Acta Radiologica, 49(8), 2008, S. 963-964
doi:10.1080/02841850802402096 PMID BibTeX | RIS

Martin A. Sieber, Philipp Lengsfeld, Thomas Frenzel, Sven Golfier, Heribert Schmitt-Willich, Fred Siegmund, Jakob Walter, Hanns-Joachim Weinmann, Hubertus Pietsch: Preclinical investigation to compare different gadolinium-based contrast agents regarding their propensity to release gadolinium in vivo and to trigger nephrogenic systemic fibrosis-like lesions. In: European Radiology, 18(10), 2008, S. 2164-2173
doi:10.1007/s00330-008-0977-y PMID BibTeX | RIS

Martin A. Sieber, Philipp Lengsfeld, Jakob Walter, Heiko Schirmer, Thomas Frenzel, Fred Siegmund, Hanns-Joachim Weinmann, Hubertus Pietsch: Gadolinium-based contrast agents and their potential role in the pathogenesis of nephrogenic systemic fibrosis: the role of excess ligand. In: Journal of Magnetic Resonance Imaging, 27(5), 2008, S. 955-962
doi:10.1002/jmri.21368 PMID BibTeX | RIS

Martin A. Sieber, Hubertus Pietsch, Jakob Walter, Wolfram Haider, Thomas Frenzel, Hanns-Joachim Weinmann: A preclinical study to investigate the development of nephrogenic systemic fibrosis: a possible role for gadolinium-based contrast media. In: Investigative Radiology, 43(1), 2008, S. 65-75
doi:10.1097/RLI.0b013e31815e6277 PMID BibTeX | RIS

Richard Jäger, Leontios Pappas, Hubert Schorle: Lactogenic differentiation of HC11 cells is not accompanied by downregulation of AP-2 transcription factor genes. In: BMC Research Notes, Vol.1, 2008, S. 29
doi:10.1186/1756-0500-1-29 PMID BibTeX | RIS

Melanie M. Hoefer, Annette Aichem, Andrew M. Knight, Harald Illges: Modulation of murine complement receptor type 2 (CR2/CD21) ectodomain shedding by its cytoplasmic domain. In: Molecular Immunology, 45(8), 2008, S. 2127-2137
doi:10.1016/j.molimm.2007.12.015 PMID BibTeX | RIS

Wolfgang Heiden: Ein Edutainment-Konzept für die akademische Lehre. In: 3. Forum Hochschullehre. Krefeld, Germany, 13.03.2008, 2008
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Wolfgang Heiden: Sensor-Analyse mit Fuzzy Logic. In: FH Aachen, Germany, 2008
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M. Turek, W. Heiden, T. A. Chhabda, A. Riesen, P. Krüger, M. Keusgen, M. J. Schöning: Artificial Intelligence/Fuzzy Logic Methods for Analysis of Combined Signals from Heavy Metal Chemical Sensors. In: Proceedings 7th International Symposium on Electrochemical Micro & Nanosystem Technologies (EMNT). Israel, September 15-19, 2008, 2008 (Poster Award)
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Mike Althaus, Roman Bogdan, Wolfgang G. Clauss, Martin Fronius: Mechano-sensitivity of epithelial sodium channels (ENaCs): laminar shear stress increases ion channel open probability. In: The FASEB Journal, 21(10), 2007, S. 2389-2399
doi:10.1096/fj.06-7694com PMID BibTeX | RIS

Hans Weiher, Ralf M. Zwacka: Vitamin D3-24-Hydroxylase (CYP24) as a Potential Target for Intervention with Diabetic and Nondiabetic Nephropathy. In: Clinical Laboratory, 53(1+2), 2007, S. 85-88
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Manfred Kneilling, Lothar Hueltner, Bernd J. Pichler, Reinhard Mailhammer, Lars Morawietz, Samuel Solomon, Martin Eichner, Joseph Sabatino, Tilo Biedermann, Veit Krenn, Wolfgang A. Weber, Harald Illges, Roland Haubner, Martin Roecken: Targeted mast cell silencing protects against joint destruction and angiogenesis in experimental arthritis in mice. In: Arthritis & Rheumatism, 56(6), 2007, S. 1806-1816
doi:10.1002/art.22602 PMID BibTeX | RIS

Ralf Schiewek, Michaela Wirtz, Markus Thiemann, Kay Plitt, Gunter Vogt, Oliver J. Schmitz: Determination of the DNA methylation level of the marbled crayfish: an increase in sample throughput by an optimised sample preparation. In: Journal of Chromatography B, 850(1-2), 2007, S. 548-552
doi:10.1016/j.jchromb.2006.11.040 PMID BibTeX | RIS

Markus Lanser, Axel Hau, Wolfgang Heiden, Rainer Herpers: GL-Wrapper for Stereoscopic Rendering of Standard Applications for a PC-based Immersive Environment. In: Intuition International Conference 2007. 4th INTUITION Conference on Virtual Reality and Virtual Environments. Athens, Greece, October 4-5, 2007, 2007
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Wolfgang Heiden: An Edutainment Approach to Academic Teaching. In: Shkodra University International ICT Conference, May 10-12, 2007, 2007
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J. O. Sass, H. Olbrich, V. Mohr, C. Hart, B. Woldseth, S. Krywawych, B. Bjurulf, P. K. Lakhani, R. M. Buchdahl, H. Omran: Neurological findings in aminoacylase 1 deficiency. In: Neurology, 68(24), 2007, S. 2151-2153
doi:10.1212/01.wnl.0000264933.56204.e8 PMID BibTeX | RIS

Daniela Baumgartner, Sabine Scholl-Bürgi, Jörn Oliver Sass, Wolfgang Sperl, Ulrich Schweigmann, Jörg-Ingolf Stein, Daniela Karall: Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. In: J Pediatr. (The Journal of Pediatrics), 150(2), 2007, S. 192-197.e1
doi:10.1016/j.jpeds.2006.11.043 PMID BibTeX | RIS

Martin A. Sieber, Robert Storm, Margaret Martinez-de-la-Torre, Thomas Müller, Hagen Wende, Katja Reuter, Elena Vasyutina, Carmen Birchmeier: Lbx1 acts as a selector gene in the fate determination of somatosensory and viscerosensory relay neurons in the hindbrain. In: The Journal of Neuroscience, 27(18), 2007, S. 4902-4909
doi:10.1523/JNEUROSCI.0717-07.2007 PMID BibTeX | RIS

Lawrence Rajendran, Soazig Le Lay, Harald Illges: Raft association and lipid droplet targeting of flotillins are independent of caveolin. In: Biological Chemistry, 388(3), 2007, S. 307-314
doi:10.1515/BC.2007.034 PMID BibTeX | RIS

Jochen Maurer, Sebastian Fuchs, Richard Jäger, Bodo Kurz, Lukas Sommer, Hubert Schorle: Establishment and controlled differentiation of neural crest stem cell lines using conditional transgenesis. In: Differentiation, 75(7), 2007, S. 580-591
doi:10.1111/j.1432-0436.2007.00164.x PMID BibTeX | RIS

Michael Peitz, Richard Jäger, Christoph Patsch, Andrea Jäger, Angela Egert, Hubert Schorle, Frank Edenhofer: Enhanced purification of cell-permeant Cre and germline transmission after transduction into mouse embryonic stem cells. In: Genesis, 45(8), 2007, S. 508-517
doi:10.1002/dvg.20321 PMID BibTeX | RIS

Richard Jäger: Targeting the death machinery in mammary epithelial cells: Implications for breast cancer from transgenic and tissue culture experiments. In: Critical Reviews in Oncology/Hematology, 63(3), 2007, S. 231-240
doi:10.1016/j.critrevonc.2007.05.006 PMID BibTeX | RIS

J. Brauers, M. Kresken, A. Menke, A. Orland, H. Weiher, I. Morrissey: Bactericidal activity of daptomycin, vancomycin, teicoplanin and linezolid against Staphylococcus aureus, Enterococcus faecalis and Enterococcus faecium using human peak free serum drug concentrations. In: International Journal of Antimicrobial Agents, 29(3), 2007, S. 322-325
doi:10.1016/j.ijantimicag.2006.10.003 PMID BibTeX | RIS

Stefan Hiendleder, Michaela Wirtz, Cora Mund, Martina Klempt, Horst-Dieter Reichenbach, Miodrag Stojkovic, Myriam Weppert, Hendrik Wenigerkind, Martin Elmlinger, Frank Lyko, Oliver J. Schmitz, Eckhard Wolf: Tissue-specific effects of in vitro fertilization procedures on genomic cytosine methylation levels in overgrown and normal sized bovine fetuses. In: Biology of Reproduction, 75(1), 2006, S. 17-23
doi:10.1095/biolreprod.105.043919 PMID BibTeX | RIS

Antonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, Franco Carrara, Pio D'Adamo, Sarah Calvo, René Massimiliano Marsano, Claudia Donnini, Hans Weiher, Pietro Strisciuglio, Rossella Parini, Emmanuelle Sarzi, Alicia Chan, Salvatore DiMauro, Agnes Rötig, Paolo Gasparini, Iliana Ferrero, Vamsi K. Mootha, Valeria Tiranti, Massimo Zeviani: MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. In: Nature Genetics, 38(5), 2006, S. 570-575
doi:10.1038/ng1765 PMID BibTeX | RIS

J. Brauers, M. Kresken, V. Dahmen, A. Menke, H. Weiher, I. Morrissey: Evaluation of daptomycin, vancomycin, teicoplanin and linezolid against Staphylococcus aureus, Enterococcus faecalis and Enterococcus faecium utilizing in-vitro time-kill methodology. In: International Journal of Medical Microbiology, 296(Supplement 3), 2006, S. 109-110
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Jörn Oliver Sass: Laboratory diagnosis of sulphite oxidase deficiency. In: European Journal of Pediatrics, 165(10), 2006, S. 739
doi:10.1007/s00431-006-0122-3 PMID BibTeX | RIS

Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo Engelke, Judit Horvath, Manfred Fliegauf, Niki Tomas Loges, Susanne Schweitzer-Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti-Furga, Ron A. Wevers, Heymut Omran: Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. In: The American Journal of Human Genetics, 78(3), 2006, S. 401-409
doi:10.1086/500563 PMID BibTeX | RIS

Ronny Jung, Anita Rauch, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, K. Michael Gibson, Ehrenfried Lachmann, Jörn Oliver Sass, Udo Trautmann, Christiane Zweier, Gundula Staatz, Ina Knerr: Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. In: Molecular Genetics and Metabolism, 88(3), 2006, S. 256-260
doi:10.1016/j.ymgme.2006.02.003 PMID BibTeX | RIS

Susen Hartmann, Jürgen G. Okun, Christiane Schmidt, Claus-Dieter Langhans, Sven F. Garbade, Peter Burgard, Dorothea Haas, Jörn Oliver Sass, William L. Nyhan, Georg F. Hoffmann: Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. In: Clinical Chemistry, 52(6), 2006, S. 1127-1137
doi:10.1373/clinchem.2005.058842 PMID BibTeX | RIS

Sarah Sengstake, Eva-Maria Boneberg, Harald Illges: CD21 and CD62L shedding are both inducible via P2X7Rs. In: International Immunology, 18(7), 2006, S. 1171-1178
doi:10.1093/intimm/dxl051 PMID BibTeX | RIS

Eva-Maria Boneberg, Elisabeth von Seydlitz, Karl Pröpster, Hans Watzl, Brigitte Rockstroh, Harald Illges: D3 dopamine receptor mRNA is elevated in T cells of schizophrenic patients whereas D4 dopamine receptor mRNA is reduced in CD4+ -T cells. In: J Neuroimmunol. (Journal of Neuroimmunology), 173(1-2), 2006, S. 180-187
doi:10.1016/j.jneuroim.2005.11.018 PMID BibTeX | RIS

Wolfgang Heiden, Arjang Ostovar: Structuring Hypermedia Novels. In: Göbel, Malkewitz et al. (Eds.): Technologies for Interactive Digital Storytelling and Entertainment. Third International Conference, TIDSE 2006, Darmstadt, Germany, December 4-6, 2006. Lecture Notes in Computer Science, Vol. 4326, 2006, S. 98-103
doi:10.1007/11944577_10 BibTeX | RIS

Wolfgang Heiden: Frühzeitige Diagnostik der peripheren arteriellen Verschlusskrankheit mit Hilfe von Thermographischer Visualisierung. In: Diabetes, Stoffwechsel und Herz, 15(April), 2006, S. 102
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Wolfgang Heiden: Edutainment Aspects in Hypermedia Storytelling. In: Pan, Aylett et al. (Eds.): Technologies for E-Learning and Digital Entertainment. First International Conference, Edutainment 2006, Hangzhou, China, April 16-19, 2006. Lecture Notes in Computer Science, Vol. 3942, 2006, S. 389-398
doi:10.1007/11736639_50 BibTeX | RIS

Rita Cornely, Wolfgang Heiden, Michael Wiese: Hydrogen bond potential in molecular modeling. In: 20. Darmstädter Molecular Modeling Workshop, Erlangen, Germany, 43 (May 23-24, 2006), 2006
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Thomas Grottenthaler, Johannes von Kempis, Sigune Goldacker, Harald Illges: Soluble CD21 in sera and synovial fluid of arthritic patients. In: Rheumatology International, 26(3), 2006, S. 240-243
doi:10.1007/s00296-004-0541-2 PMID BibTeX | RIS

Annette Aichem, Madhan Masilamani, Harald Illges: Redox regulation of CD21 shedding involves signaling via PKC and indicates the formation of a juxtamembrane stalk. In: Journal of Cell Science, 119(14), 2006, S. 2892-2902
doi:10.1242/jcs.02984 PMID BibTeX | RIS

Melanie M. Hoefer, Eva-Maria Boneberg, Stefan Grotegut, Justine Kusch, Harald Illges: Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation. In: International Journal of Biological Macromolecules, 38(3-5), 2006, S. 259-267
doi:10.1016/j.ijbiomac.2006.03.015 PMID BibTeX | RIS

Eric Fassbender, Wolfgang Heiden: The Virtual Memory Palace. In: Journal of Computational Information Systems, 2(1), 2006, S. 457-464
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Martin Corcoran, Anton Parker, Jenny Orchard, Zadie Davis, Michaela Wirtz, Oliver J. Schmitz, David Oscier: ZAP-70 methylation status is associated with ZAP-70 expression status in chronic lymphocytic leukemia. In: Haematologica, 90(8), 2005, S. 1078-1088
URL PMID BibTeX | RIS

Michaela Wirtz, Claus A. Schumann, Marc Schellentrager, Siegmar Gab, Jochen Vom Brocke, Michael A. L. Podeschwa, Hans-J Altenbach, David Oscier, Oliver J. Schmitz: Capillary electrophoresis-laser induced fluorescence analysis of endogenous damage in mitochondrial and genomic DNA. In: Electrophoresis, 26(13), 2005, S. 2599-2607
doi:10.1002/elps.200410397 PMID BibTeX | RIS

U. Tacke, H. Olbrich, J. O. Sass, A. Fekete, J. Horvath, S. Ziyeh, W. J. Kleijer, M-O Rolland, S. Fisher, S. Payne, E. Vargiami, D. I. Zafeiriou, H. Omran: Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. In: Neuropediatrics, 36(4), 2005, S. 252-255
doi:10.1055/s-2005-865865 PMID BibTeX | RIS

Jörn Oliver Sass, Andrea Superti-Furga: Gamma-hydroxybutyric acid. In: The New England Journal of Medicine, 353(15), 2005, S. 1632-1633
doi:10.1056/NEJMc052046 PMID BibTeX | RIS

Jochen Reiss, Michael Bonin, Herbert Schwegler, Jörn Oliver Sass, Enrico Garattini, Silke Wagner, Heon-Jin Lee, Wolfgang Engel, Olaf Riess, Günter Schwarz: The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. In: Molecular Genetics and Metabolism, 85(1), 2005, S. 12-20
doi:10.1016/j.ymgme.2005.01.008 PMID BibTeX | RIS

Willy Lehnert, Jörn Oliver Sass: Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). In: Med Hypotheses. (Medical Hypotheses), 65(2), 2005, S. 330-333
doi:10.1016/j.mehy.2005.02.021 PMID BibTeX | RIS

Martina Huemer, Burkhard Simma, Brian Fowler, Terttu Suormala, Olaf A. Bodamer, Jörn Oliver Sass: Prenatal and postnatal treatment in cobalamin C defect. In: The Journal of Pediatrics, 147(4), 2005, S. 469-472
doi:10.1016/j.jpeds.2005.04.040 PMID BibTeX | RIS

Maria Haller, Angelika Henzler-Le Boulanger, Jörn Oliver Sass, Matthias Brandis, Lothar Bernd Zimmerhackl: Successful extracorporeal treatment of a male with hyperammonaemic coma. In: Nephrology Dialysis Transplantation, 20(2), 2005, S. 453-455
doi:10.1093/ndt/gfh495 PMID BibTeX | RIS

Gunther Spohn, Katrin Schwarz, Patrik Maurer, Harald Illges, Narendiran Rajasekaran, Yongwon Choi, Gary T. Jennings, Martin F. Bachmann: Protection against osteoporosis by active immunization with TRANCE/RANKL displayed on virus-like particles. In: The Journal of Immunology, 175(9), 2005, S. 6211-6218
doi:10.4049/jimmunol.175.9.6211 PMID BibTeX | RIS

Hong-gang Hu, Harald Illges, Claudia Gruss, Rolf Knippers: Distribution of the chromatin protein DEK distinguishes active and inactive CD21/CR2 gene in pre- and mature B lymphocytes. In: International Immunology, 17(6), 2005, S. 789-796
doi:10.1093/intimm/dxh261 PMID BibTeX | RIS

Steffen Möller, Eilhard Mix, Martin Blüggel, Pablo Serrano-Fernández, Dirk Koczan, Vasilis Kotsikoris, Manfred Kunz, Michael Watson, Jens Pahnke, Harald Illges, Michael Kreutzer, Stefan Mikkat, Hans-Jürgen Thiesen, Michael O. Glocker, Uwe K. Zettl, Saleh M. Ibrahim: Collection of soluble variants of membrane proteins for transcriptomics and proteomics. In: In Silico Biology, 5(3), 2005, S. 295-311
URL PMID BibTeX | RIS

Dawid Eckert, Sandra Buhl, Susanne Weber, Richard Jäger, Hubert Schorle: The AP-2 family of transcription factors. In: Genome Biology, 6(13), 246, 2005
doi:10.1186/gb-2005-6-13-246 PMID BibTeX | RIS

Richard Jäger, Jens Hahne, Andrea Jacob, Angela Egert, Johannes Schenkel, Nicolas Wernert, Hubert Schorle, Axel Wellmann: Mice transgenic for NPM-ALK develop non-Hodgkin lymphomas. In: Anticancer Research, 25(5), 2005, S. 3191-3196
URL PMID BibTeX | RIS

Richard Jennemann, Roger Sandhoff, Shijun Wang, Eva Kiss, Norbert Gretz, Cecilia Zuliani, Ana Martin-Villalba, Richard Jäger, Hubert Schorle, Marc Kenzelmann, Mahnaz Bonrouhi, Herbert Wiegandt, Hermann-Josef Gröne: Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth. In: Proceedings of the National Academy of Sciences of the United States of America, 102(35), 2005, S. 12459-12464
doi:10.1073/pnas.0500893102 BibTeX | RIS

Katharina Pauls, Richard Jäger, Susanne Weber, Eva Wardelmann, Arend Koch, Reinhard Büttner, Hubert Schorle: Transcription factor AP-2gamma, a novel marker of gonocytes and seminomatous germ cell tumors. In: International Journal of Cancer, 115(3), 2005, S. 470-477
doi:10.1002/ijc.20913 BibTeX | RIS

Richard Jäger, Nicolaus Friedrichs, Inge Heim, Reinhard Büttner, Hubert Schorle: Dual role of AP-2gamma in ErbB-2-induced mammary tumorigenesis. In: Breast Cancer Research and Treatment, 90(3), 2005, S. 273-280
doi:10.1007/s10549-004-4815-x BibTeX | RIS

Christine Philbrook, Eberhard Fritz, Hans Weiher: Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. In: Experimental Gerontology, 40(8-9), 2005, S. 671-678
doi:10.1016/j.exger.2005.06.008 PMID BibTeX | RIS

Samuel Solomon, Narendiran Rajasekaran, Elvira Jeisy-Walder, Scott B. Snapper, Harald Illges: A crucial role for macrophages in the pathology of K/B × N serum-induced arthritis. In: European Journal of Immunology, 35(10), 2005, S. 3064-3073
doi:10.1002/eji.200526167 PMID BibTeX | RIS

Samuel Solomon, Daniela Kassahn, Harald Illges: The role of the complement and the FcγR system in the pathogenesis of arthritis. In: Arthritis Research & Therapy, 7(4), 2005, S. 129-135
doi:10.1186/ar1761 PMID BibTeX | RIS

Wolfgang Heiden, Rita Cornely: Representation and Analysis of 3D Shape. In: GraphiCon 2005 Proceedings. Novosibirsk, Russia, 20-24 Jun. 2005, 2005
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D. Schmitz, D. Seibt, R. Herpers, W. Heiden: 3D-Reconstruction of Microscopic Translucent Silicate-Based Marine and Freshwater Organisms. In: Hartmann (Ed.): Aktuelle Methoden der Laser- und Medizinphysik. Tagungsband der 2. Remagener Physiktage 2004, Remagen, 29. September bis 1. Oktober 2004, 2005, S. 43-48
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Rainer Herpers, Florian Hetmann, Axel Hau, Wolfgang Heiden: The Immersion Square - A Mobile Platform for Immersive Visualizations. In: Hartmann (Ed.): Aktuelle Methoden der Laser- und Medizinphysik. Tagungsband der 2. Remagener Physiktage 2004, Remagen, 29. September bis 1. Oktober 2004, 2005, S. 54-59
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Frank Lyko, Dirk Stach, Axel Brenner, Stephan Stilgenbauer, Hartmut Dohner, Michaela Wirtz, Manfred Wiessler, Oliver J. Schmitz: Quantitative analysis of DNA methylation in chronic lymphocytic leukemia patients. In: Electrophoresis, 25(10-11), 2004, S. 1530-1535
doi:10.1002/elps.200305830 PMID BibTeX | RIS

Michaela Wirtz, Dirk Stach, Hans-Christian Kliem, Manfred Wiessler, Oliver J. Schmitz: Determination of the DNA methylation level in tumor cells by capillary electrophoresis and laser-induced fluorescence detection. In: Electrophoresis, 25(6), 2004, S. 839-845
doi:10.1002/elps.200305761 PMID BibTeX | RIS

Sean Michael O'Shea, Lore Becker, Hans Weiher, Heinrich Betz, Bodo Laube: Propofol restores the function of "hyperekplexic" mutant glycine receptors in Xenopus oocytes and mice. In: The Journal of Neuroscience, 24(9), 2004, S. 2322-2327
doi:10.1523/JNEUROSCI.4675-03.2004 PMID BibTeX | RIS

A. Mohr, G. Henderson, L. Dudus, I. Herr, T. Kuerschner, K-M Debatin, H. Weiher, K. J. Fisher, R. M. Zwacka: AAV-encoded expression of TRAIL in experimental human colorectal cancer leads to tumor regression. In: Gene Therapy, Vol.11, 2004, S. 534-543
doi:10.1038/sj.gt.3302154 PMID BibTeX | RIS

Damayanti R. Sjarif, Christina Hellerud, Johannes K. Ploos van Amstel, Willem J. Kleijer, Wolfgang Sperl, Didier Lacombe, Jörn Oliver Sass, Frits A. Beemer, Marinus Duran, Bwee Tien Poll-The: Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation. In: European Journal of Human Genetics, 12(6), 2004, S. 424-432
doi:10.1038/sj.ejhg.5201172 PMID BibTeX | RIS

Günter Schwarz, José Angel Santamaria-Araujo, Stefan Wolf, Heon-Jin Lee, Ibrahim M. Adham, Hermann-Josef Gröne, Herbert Schwegler, Jörn Oliver Sass, Tanja Otte, Petra Hänzelmann, Ralf R. Mendel, Wolfgang Engel, Jochen Reiss: Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. In: Human Molecular Genetics, 13(12), 2004, S. 1249-1255
doi:10.1093/hmg/ddh136 PMID BibTeX | RIS

Jörn Oliver Sass, Toyofumi Nakanishi, Takako Sato, Akira Shimizu: New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. In: Annals of Clinical Biochemistry, 41(2), 2004, S. 157-159
doi:10.1258/000456304322880078 PMID BibTeX | RIS

Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. In: Brain and Development, 26(1), 2004, S. 12-14
doi:10.1016/S0387-7604(03)00071-8 PMID BibTeX | RIS

J. O. Sass, D. Skladal, B. Zelger, N. Romani, B. Utermann: Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid. In: Archives of Dermatological Research, 296(4), 2004, S. 188-191
doi:10.1007/s00403-004-0483-2 PMID BibTeX | RIS

J. O. Sass, S. Sander, J. Zschocke: Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. In: Journal of Inherited Metabolic Disease, 27(6), 2004, S. 741-745
doi:10.1023/B:BOLI.0000045798.12425.1b PMID BibTeX | RIS

J. O. Sass, M. Hofmann, D. Skladal, E. Mayatepek, B. Schwahn, W. Sperl: Propionic acidemia revisited: a workshop report. In: Clinical Pediatrics, 43(9), 2004, S. 837-843
doi:10.1177/000992280404300908 PMID BibTeX | RIS

Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah Grünert, Hans-Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern: A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. In: The American Journal of Human Genetics, 75(6), 2004, S. 1136-1142
doi:10.1086/426318 PMID BibTeX | RIS

M. Masilamani, R. Nowack, T. Witte, M. Schlesier, K. Warnatz, M. O. Glocker, H. H. Peter, H. Illges: Reduction of soluble complement receptor 2/CD21 in systemic lupus erythomatosus and Sjogren's syndrome but not juvenile arthritis. In: Scandinavian Journal of Immunology, 60(6), 2004, S. 625-630
doi:10.1111/j.0300-9475.2004.01494.x PMID BibTeX | RIS

M. V. Klett, E-M Boneberg, K. Trenz, R. Knippers, H. Illges: Hydrostatic pressure induces apoptosis in the human leukaemic T-cell line Jurkat via the mitochondrial pathway. In: Scandinavian Journal of Immunology, 60(4), 2004, S. 403-411
doi:10.1111/j.0300-9475.2004.01496.x PMID BibTeX | RIS

Claudia Wehr, Hermann Eibel, Madhan Masilamani, Harald Illges, Michael Schlesier, Hans-Hartmut Peter, Klaus Warnatz: A new CD21low B cell population in the peripheral blood of patients with SLE. In: Clinical Immunology, 113(2), 2004, S. 161-171
doi:10.1016/j.clim.2004.05.010 PMID BibTeX | RIS

Nicolaus Friedrichs, Richard Jäger, Ellen Paggen, Christian Rudlowski, Sabine Merkelbach-Bruse, Hubert Schorle, Reinhard Buettner: Distinct spatial expression patterns of AP-2alpha and AP-2gamma in non-neoplastic human breast and breast cancer. In: Modern Pathology, 18(3), 2004, S. 431-438
doi:10.1038/modpathol.3800292 BibTeX | RIS

Richard Jäger, Jochen Maurer, Andrea Jacob, Hubert Schorle: Cell type-specific conditional regulation of the c-myc proto-oncogene by combining Cre/loxP recombination and tamoxifen-mediated activation. In: Genesis, 38(3), 2004, S. 145-150
doi:10.1002/gene.20014 PMID BibTeX | RIS

V. Kemmet, W. Heiden: Augmented Perception - AuPer. In: Proceedings EnviHab Workshop. EnviHab Workshop, DLR, Köln-Porz, Germany, Sep. 02-03, 2004, 2004, S. 56
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Jörn Oliver Sass, Toyofumi Nakanishi, Takako Sato, Wolfgang Sperl, Akira Shimizu: S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia. In: Biochemical and Biophysical Research Communications, 310(1), 2003, S. 242-246
doi:10.1016/j.bbrc.2003.08.089 PMID BibTeX | RIS

J. O. Sass, M. Kishikawa, R. Puttinger, J. Reiss, W. Erwa, A. Shimizu, W. Sperl: Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. In: Journal of Inherited Metabolic Disease, 26(1), 2003, S. 80-82
doi:10.1023/A:1024091900547 PMID BibTeX | RIS

Rob Ofman, Jos P. N. Ruiter, Marike Feenstra, Marinus Duran, Bwee Tien Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, Ronald J. A. Wanders: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. In: The American Journal of Human Genetics, 72(5), 2003, S. 1300-1307
URL PMID doi:10.1086/375116 BibTeX | RIS

M. Masilamani, J. von Kempis, H. Illges: Decreased levels of serum soluble complement receptor-II (CR2/CD21) in patients with rheumatoid arthritis. In: Rheumatology, 43(2), 2003, S. 186-190
doi:10.1093/rheumatology/keg449 PMID BibTeX | RIS

Samuel Solomon, Madhan Masilamani, Subhasis Mohanty, Jörg E. Schwab, Eva-Maria Boneberg, Harald Illges: Generation of three-dimensional pannus-like tissues in vitro from single cell suspensions of synovial fluid cells from arthritis patients. In: Rheumatology International, 24(2), 2003, S. 71-76
doi:10.1007/s00296-003-0333-0 PMID BibTeX | RIS

Madhan Masilamani, Daniela Kassahn, Stefan Mikkat, Michael O. Glocker, Harald Illges: B cell activation leads to shedding of complement receptor type II (CR2/CD21). In: European Journal of Immunology, 33(9), 2003, S. 2391-2397
doi:10.1002/eji.200323843 PMID BibTeX | RIS

Lawrence Rajendran, Madhan Masilamani, Samuel Solomon, Ritva Tikkanen, Claudia A. O. Stuermer, Helmut Plattner, Harald Illges: Asymmetric localization of flotillins/reggies in preassembled platforms confers inherent polarity to hematopoietic cells. In: Proceedings of the National Academy of Sciences of the United States of America, 100(14), 2003, S. 8241-8246
doi:10.1073/pnas.1331629100 PMID BibTeX | RIS

Subhasis Mohanty, Stefan Marcus Weiner, Reinhardt Mentele, Peter Vaith, Friedrich Lottspeich, Harald Illges: Human IgG1/IgG3 cryoglobulin suggesting lack of allelic exclusion. In: Molecular Immunology, 39(16), 2003, S. 1003-1011
doi:10.1016/S0161-5890(03)00045-2 PMID BibTeX | RIS

Soeren-Oliver Deininger, Lawrence Rajendran, Friedrich Lottspeich, Michael Przybylski, Harald Illges, Claudia A. O. Stuermer, Alexander Reuter: Identification of teleost Thy-1 and association with the microdomain/lipid raft reggie proteins in regenerating CNS axons. In: Molecular and Cellular Neurosciences, 22(4), 2003, S. 544-554
doi:10.1016/S1044-7431(03)00028-9 PMID BibTeX | RIS

Richard Jäger, Uwe Werling, Stephan Rimpf, Andrea Jacob, Hubert Schorle: Transcription Factor AP-2γ Stimulates Proliferation and Apoptosis and Impairs Differentiation in a Transgenic Model. In: Molecular Cancer Research, 1(12), 2003, S. 921-929
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M. D. Lacher, A. Siegenthaler, Richard Jäger, Xi Yan, S. Hett, L. Xuan, S. Saurer, R. R. Lareu, A. M. Dharmarajan, R. Friis: Role of DDC-4/sFRP-4, a secreted Frizzled-related protein, at the onset of apoptosis in mammary involution. In: Cell Death and Differentiation, 10(5), 2003, S. 528-538
doi:10.1038/sj.cdd.4401197 BibTeX | RIS

E. Matthes, D. Schmitz, W. Heiden: Software-Driven Visual Depth-Perception. In: CVR 2003, York International Conference on Visual Processing of Spatial Form Defined by Luminance, Colour, Motion, Texture, and Binocular Disparity. York University, Toronto, Canada, Jun. 18-21, 2003, 2003
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Wolfgang Heiden: Die Hypermedia Novel - Interaktives Erzählen im Netz. In: Inklings-Symposium 2003, Sankt Augustin, Germany, May 01-04, 2003, 2003
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Lore Becker, Jorg von Wegerer, Johannes Schenkel, Hanns-Ulrich Zeilhofer, Dieter Swandulla, Hans Weiher: Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice. In: The Journal of Neuroscience, 22(7), 2002, S. 2505-2512
doi:10.1523/JNEUROSCI.22-07-02505.2002 PMID BibTeX | RIS

Jörn Oliver Sass, Sara Pascoe-González, Willy Lehnert: Screening in clinical trials. In: The Lancet, 360(9337), 2002, S. P952
doi:10.1016/S0140-6736(02)11058-0 PMID BibTeX | RIS

Heon-Jin Lee, Ibrahim M. Adham, Günter Schwarz, Matthias Kneussel, Jörn O. Sass, Wolfgang Engel, Jochen Reiss: Molybdenum cofactor-deficient mice resemble the phenotype of human patients. In: Human Molecular Genetics, 11(26), 2002, S. 3309-3317
doi:10.1093/hmg/11.26.3309 PMID BibTeX | RIS

Masahiko Kishikawa, Jörn Oliver Sass, Nobuo Sakura, Toyofumi Nakanishi, Akira Shimizu, Masanori Yoshioka: The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1588(2), 2002, S. 135-138
doi:10.1016/S0925-4439(02)00156-4 PMID BibTeX | RIS

Samuel Solomon, Madhan Masilamani, Lawrence Rajendran, Martin Bastmeyer, Claudia A. O. Stuermer, Harald Illges: The lipid raft microdomain-associated protein reggie-1/flotillin-2 is expressed in human B cells and localized at the plasma membrane and centrosome in PBMCs. In: Immunobiology, 205(1), 2002, S. 108-119
doi:10.1078/0171-2985-00114 PMID BibTeX | RIS

Rudolf Mierau, Harald Illges: Autoantikörper und das Komplementsystem - Bedeutung für die Pathogenese der Rheumatoiden Arthritis?. In: Zeitschrift für Rheumatologie, 61(4), 2002, S. 460-463
doi:10.1007/s00393-002-0435-1 PMID BibTeX | RIS

Madhan Masilamani, Elizabeth von Seydlitz, Martin Bastmeyer, Harald Illges: T cell activation induced by cross-linking CD3 and CD28 leads to silencing of Epstein-Barr virus/C3d receptor (CR2/CD21) gene and protein expression. In: Immunobiology, 206(5), 2002, S. 528-536
doi:10.1078/0171-2985-00201 PMID BibTeX | RIS

H. Illges: Die Rolle der Komplementpfade, Fc-Rezeptoren und Antikörper in einem Rheumamodell. In: Immunologie Aktuell, Vol.2, 2002, S. 179-181
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Hua Shen, Harald Illges, Alexander Reuter, Claudia A. O. Stuermer: Cloning, expression, and alternative splicing of neogenin1 in zebrafish. In: Mechanisms of Development, 118(1-2), 2002, S. 219-223
doi:10.1016/S0925-4773(02)00255-1 PMID BibTeX | RIS

Madhan Masilamani, Hans-Jürgen Apell, Harald Illges: Purification and characterization of soluble CD21 from human plasma by affinity chromatography and density gradient centrifugation. In: Journal of Immunological Methods, 270(1), 2002, S. 11-18
doi:10.1016/S0022-1759(02)00211-9 PMID BibTeX | RIS

Daniela Kassahn, Cornelia Kolb, Samuel Solomon, Petra Bochtler, Harald Illges: Few human autoimmune sera detect GPI. In: Nature Immunology, 3(5), 2002, S. 411-412
doi:10.1038/ni0502-411b PMID BibTeX | RIS

Samuel Solomon, Cornelia Kolb, Subhasis Mohanty, Elvira Jeisy-Walder, Rosemarie Preyer, Volkmar Schöllhorn, Harald Illges: Transmission of antibody-induced arthritis is independent of complement component 4 (C4) and the complement receptors 1 and 2 (CD21/35). In: European Journal of Immunology, 32(3), 2002, S. 644-651
doi:10.1002/1521-4141(200203)32:3<644::AID-IMMU644>3.0.CO;2-5 PMID BibTeX | RIS

Nadia Munarini, Richard Jäger, Susanne Abderhalden, Gisela Zuercher, Valeria Rohrbach, Saemi Loercher, Brigitte Pfanner-Meyer, Anne-Catherine Andres, Andrew Ziemiecki: Altered mammary epithelial development, pattern formation and involution in transgenic mice expressing the EphB4 receptor tyrosine kinase. In: Journal of Cell Science, 115(1), 2002, S. 25-37
doi:10.1242/jcs.115.1.25 BibTeX | RIS

F. Hetmann, R. Herpers, W. Heiden: The Immersion Square - Immersive VR with Standard Components. In: Proceedings Virtual Environment on a PC Cluster Workshop (VEonPC2002). Protvino/ St. Petersburg, Russia, Sep. 09-15, 2002, 2002
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G. Wagner, K. Stettmaier, W. Bors, H. Sies, E. M. Wagner, A. Reuter, H. Weiher: Enhanced gamma-glutamyl transpeptidase expression and superoxide production in Mpv17-/- glomerulosclerosis mice. In: Biological Chemistry, 382(7), 2001, S. 1019-1025
doi:10.1515/BC.2001.128 PMID BibTeX | RIS

Angela M. Meyer zum Gottesberge, Heidi Felix, Alexander Reuter, Hans Weiher: Ultrastructural and physiological defects in the cochlea of the Mpv17 mouse strain. In: Hearing Research, 156(1-2), 2001, S. 69-80
doi:10.1016/S0378-5955(01)00268-4 PMID BibTeX | RIS

J. O. Sass, W. Sperl, C. Bachmann: Treatment of neonatal hyperammonaemia. In: The Lancet, 358(9294), 2001, S. 1727-1728
doi:10.1016/S0140-6736(01)06746-0 PMID BibTeX | RIS

Jörn Oliver Sass, Daniela Skladal, Stephan Felber: Update on white matter genetic disorders. In: Pediatric Neurology, 25(4), 2001, S. 348
doi:10.1016/S0887-8994(01)00341-1 PMID BibTeX | RIS

J. O. Sass, P. Heinz-Erian, W. Högler: Increased CSF cortisol in AD is a function of APOE genotype. In: Neurology, 57(8), 2001, S. 1522-1523
doi:10.1212/WNL.57.8.1522-a PMID BibTeX | RIS

J. O. Sass, R. Crazzolara, P. Heinz-Erian: Mechanisms of brain injury in infantile child abuse. In: The Lancet, 358(9298), 2001, S. 2082-2083
doi:10.1016/S0140-6736(01)07116-1 PMID BibTeX | RIS

Ralph Rühl, Jörn Sass, Heinz Nau, Stephan Klug: Effects of all-trans-retinoic acid and all-trans-retinoyl glucuronide in two in vitro systems of distinct biological complexity. In: Archives of Toxicology, 75(8), 2001, S. 497-504
doi:10.1007/s002040100257 PMID BibTeX | RIS

Jörg Schwab, Harald Illges: Silencing of CD21 expression in synovial lymphocytes is independent of methylation of the CD21 promoter CpG island. In: Rheumatology International, 20(4), 2001, S. 133-137
doi:10.1007/s002960000090 PMID BibTeX | RIS

Jörg Schwab, Harald Illges: Regulation of CD21 expression by DNA methylation and histone deacetylation. In: International Immunology, 13(5), 2001, S. 705-710
doi:10.1093/intimm/13.5.705 PMID BibTeX | RIS

Andreas Marti, Philipp M. Ritter, Richard Jäger, Hedvika Lazar, Anna Baltzer, Johannes Schenkel, Wim Declercq, Peter Vandenabeele, Rolf Jaggi: Mouse mammary gland involution is associated with cytochrome c release and caspase activation. In: Mechanisms of Development, 104(1-2), 2001, S. 89-98
doi:10.1016/S0925-4773(01)00381-1 BibTeX | RIS

Wolfgang Heiden, Christian Frühling, Harald Deuer: Hypermedia Novel HYMN - A New Storytelling Paradigm. In: netzspannung.org/journal, 2001, S. 345-348
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H. Bürger, W. Jerzembeck, H. Ruland, M. Wirtz: High resolution FTIR spectra of AsD 3 in the 20-1000 cm −1 region. The ground, 98, v 2 = 1 and v 4 = 1 states. In: Molecular Physics, 98(9), 2000, S. 589-604
doi:10.1080/00268970009483326 BibTeX | RIS

T. O'Bryan, H. Weiher, H. G. Rennke, S. Kren, T. H. Hostetter: Course of renal injury in the Mpv17-deficient transgenic mouse. In: Journal of the American Society of Nephrology, 11(6), 2000, S. 1067-1074
PMID doi:10.1681/ASN.V1161067 BibTeX | RIS

Lore Becker, Bettina Hartenstein, Johannes Schenkel, Jochen Kuhse, Heinrich Betz, Hans Weiher: Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease. In: European Journal of Neuroscience, 12(1), 2000, S. 27-32
doi:10.1046/j.1460-9568.2000.00877.x PMID BibTeX | RIS

W. Sperl, C. Murr, D. Skladal, J. O. Sass, T. Suormala, R. Baumgartner, U. Wendel: Odd-numbered long-chain fatty acids in propionic acidaemia. In: European Journal of Pediatrics, 159(1-2), 2000, S. 54-58
doi:10.1007/s004310050010 PMID BibTeX | RIS

D. Skladal, J. O. Sass, H. Geiger, R. Geiger, C. Mann, P. Vreken, R. J. Wanders, R. Trawöger: Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects. In: Journal of Pediatric Gastroenterology and Nutrition, 31(4), 2000, S. 448-452
URL PMID BibTeX | RIS

J. O. Sass, D. Skladal: Plasma leptin in prepubertal patients with glycogen storage diseases. In: Hormone and Metabolic Research, 32(1), 2000, S. 44-46
doi:10.1055/s-2007-978585 PMID BibTeX | RIS

J. O. Sass, D. Skladal: Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I. In: Journal of Paediatrics and Child Health, 36(1), 2000, S. 91-93
doi:10.1046/j.1440-1754.2000.00455.x PMID BibTeX | RIS

J. O. Sass, J. Padberg: Human isotretinoin metabolism during indinavir therapy. In: AIDS Research and Human Retroviruses, 16(14), 2000, S. 1451-1452
doi:10.1089/08892220050141008 PMID BibTeX | RIS

J. O. Sass, B. Jakob-Sölder, A. Heitger, G. Tzimas, M. Sarcletti: Paronychia with pyogenic granuloma in a child treated with indinavir: the retinoid-mediated side effect theory revisited. In: Dermatology, 200(1), 2000, S. 40-42
doi:10.1159/000018313 PMID BibTeX | RIS

J. O. Sass, T. Arnhold, G. Tzimas, D. M. Jacobson: Serum vitamin A is elevated in idiopathic intracranial hypertension. In: Neurology, 54(11), 2000, S. 2192-2193
doi:10.1212/WNL.54.11.2192 PMID BibTeX | RIS

WenChieh Chen, Jörn Oliver Sass, Holger Seltmann, Heinz Nau, Constantin E. Orfanos, Christos C. Zouboulis: Biological effects and metabolism of 9-cis-retinoic acid and its metabolite 9,13-di-cis-retinoic acid in HaCaT keratinocytes in vitro: comparison with all-trans-retinoic acid. In: Archives of Dermatological Research, 292(12), 2000, S. 612-620
doi:10.1007/s004030000189 PMID BibTeX | RIS

H. Illges, M. Braun, H. H. Peter, I. Melchers: Reduced expression of the complement receptor type 2 (CR2, CD21) by synovial fluid B and T lymphocytes. In: Clinical and Experimental Immunology, 122(2), 2000, S. 270-276
doi:10.1046/j.1365-2249.2000.01379.x PMID BibTeX | RIS

Atef Allam, Harald Illges: Calyculin A inhibits expression of CD8alpha but not CD4 in human peripheral blood T cells. In: Immunobiology, 202(4), 2000, S. 353-362
doi:10.1016/S0171-2985(00)80039-X PMID BibTeX | RIS

Axel Denz, Hermann Eibel, Harald Illges, Georg Kienzle, Michael Schlesier, Hans-Hartmut Peter: Impaired up-regulation of CD86 in B cells of "type A" common variable immunodeficiency patients. In: European Journal of Immunology, 30(4), 2000, S. 1069-1077
doi:10.1002/(SICI)1521-4141(200004)30:4<1069::AID-IMMU1069>3.0.CO;2-M PMID BibTeX | RIS

W. Heiden, M. Göbel: Virtuelle Umgebungen. In: Szczerbicka, Uthmann (Eds.): Modellierung, Simulation und Künstliche Intelligenz. Statusband, Ghent: SCS-Europe, 2000, S. 139-173
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Wolfgang Heiden, Manfred Kaul: Internet and Broadcasting - a mutually beneficial combination. In: Proceedings Internet Broadcasting 2000, IAB Montreux, CH, March 1-2, 2000, 2000
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J. Schenkel, H. Gaissert, E. E. Protopapa, H. Weiher, L. Gissmann, A. Alonso: The human papillomavirus type 11 upstream regulatory region triggers hair-follicle-specific gene expression in transgenic mice. In: The Journal of Investigative Dermatology, 112(6), 1999, S. 893-898
doi:10.1046/j.1523-1747.1999.00589.x PMID BibTeX | RIS

Martine Clozel, Patrick Hess, Walter Fischli, Bernd–Michael Löffler, Ralf M. Zwacka, Alexander Reuter, Hans Weiher: Age-dependent hypertension in Mpv17-deficient mice, a transgenic model of glomerulosclerosis and inner ear disease. In: Experimental Gerontology, 34(8), 1999, S. 1007-1015
doi:10.1016/S0531-5565(99)00074-1 PMID BibTeX | RIS

Christoph J. Binder, Hans Weiher, Markus Exner, Dontscho Kerjaschki: Glomerular Overproduction of Oxygen Radicals in Mpv17 Gene-Inactivated Mice Causes Podocyte Foot Process Flattening and Proteinuria. In: The American Journal of Pathology, 154(4), 1999, S. 1067-1075
doi:10.1016/S0002-9440(10)65359-X PMID BibTeX | RIS

Christos C. Zouboulis, Holger Seltmann, Jörn Oliver Sass, Ralph Rühl, Claudia Plum, Uwe Hettmannsperger, Ulrike Blume-Peytavi, Heinz Nau, Constantin E. Orfanos: Retinoid signaling by all-trans retinoic acid and all-trans retinoyl-beta-D-glucuronide is attenuated by simultaneous exposure of human keratinocytes to retinol. In: The Journal of Investigative Dermatology, 112(2), 1999, S. 157-164
doi:10.1046/j.1523-1747.1999.00496.x PMID BibTeX | RIS

Jörn Oliver Sass, Georg Tzimas, Mohamed M.A. Elmazar, Heinz Nau: Metabolism of Retinaldehyde Isomers in Pregnant Rats: 13-cis- and all-trans-Retinaldehyde, but not 9-cis-Retinaldehyde, Yield Very Similar Patterns of Retinoid Metabolites. In: Drug Metabolism and Disposition, 27(3), 1999, S. 317-321
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J. O. Sass, D. Skladal, E. Viertler: Methionine loading in a Down's syndrome patient with cerebral infarction. In: Annals of Clinical Biochemistry, 36(2), 1999, S. 252-255
doi:10.1177/000456329903600225 PMID BibTeX | RIS

Jörn Oliver Sass, Daniela Skladal, Michaela Brunner-Krainz: Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis. In: Metabolic Brain Disease, 14(1), 1999, S. 67-70
doi:10.1023/A:1020613631353 PMID BibTeX | RIS

Jörn Oliver Sass, Daniela Skladal: Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency. In: Pediatric Nephrology, 13(9), 1999, S. 912-916
doi:10.1007/s004670050726 PMID BibTeX | RIS

Silvia Muro, Pilar Rodríguez‐Pombo, Belén Pérez, Celia Pérez‐Cerdá, Lourdes R. Desviat, Wolfgang Sperl, Daniela Skladal, Jörn Oliver Sass, Magdalena Ugarte: Identification of novel mutations in the PCCB gene in European propionic acidemia patients. In: Human Mutation, 14(1), 1999, S. 89-90
doi:10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5 PMID BibTeX | RIS

L. Didierjean, J. O. Sass, P. Carraux, D. Grand, O. Sorg, C. Plum, H. Nau, J. H. Saurat: Topical 9-cis-retinaldehyde for delivery of 9-cis-retinoic acid in mouse skin. In: Experimental Dermatology, 8(3), 1999, S. 199-203
doi:10.1111/j.1600-0625.1999.tb00371.x PMID BibTeX | RIS

Priscilla A. Furth, Ud Bar-Peled, Minglin Li, Albert Lewis, Rodolfo Laucirica, Richard Jäger, Hans Weiher, Robert G. Russell: Loss of anti-mitotic effects of Bcl-2 with retention of anti-apoptotic activity during tumor progression in a mouse model. In: Oncogene, 18(47), 1999, S. 6589-6596
doi:10.1038/sj.onc.1203073 BibTeX | RIS

Kristen L. Murphy, Frances S. Kittrell, Jason P. Gay, Richard Jäger, Daniel Medina, Jeffrey M. Rosen: Bcl-2 expression delays mammary tumor development in dimethylbenz(a)anthracene-treated transgenic mice. In: Oncogene, 18(47), 1999, S. 6597-6604
doi:10.1038/sj.onc.1203099 BibTeX | RIS

Kristel Schorr, Minglin Li, Ud Bar-Peled, Albert Lewis, Alonso Heredia, Bernadette Lewis, C. Michael Knudson, Stanley J. Korsmeyer, Richard Jäger, Hans Weiher, Priscilla A. Furth: Gain of Bcl-2 is more potent than bax loss in regulating mammary epithelial cell survival in vivo. In: Cancer Research, 59(11), 1999, S. 2541-2545
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Monika Fleischmann, Thomas Sikora, Wolfgang Heiden, Wolfgang Strauss, Karsten Sikora, Josef Speier: The Virtual Balance: An Input Device for VR Environments. In: GMD-Report, 1999
doi:10.24406/publica-fhg-290265 BibTeX | RIS

Ralf Thiele, Ralf Zimmer, Thomas Lengauer: Protein threading by recursive dynamic programming. In: Journal of Molecular Biology, 290(3), 1999, S. 757-779
doi:10.1006/jmbi.1999.2893 PMID BibTeX | RIS

Alexander Reuter, Andrea Nestl, Ralf M. Zwacka, Jan Tuckermann, Rüdiger Waldherr, Eva-Maria Wagner, Matti Höyhtyä, Angela M. Meyer zum Gottesberge, Peter Angel, Hans Weiher: Expression of the Recessive Glomerulosclerosis Gene Mpv17 Regulates MMP-2 Expression in Fibroblasts, the Kidney, and the Inner Ear of Mice. In: Molecular Biology of the Cell, 9(7), 1998, S. 1675-1682
doi:10.1091/mbc.9.7.1675 PMID BibTeX | RIS

Gerhard Eckel, Martin Göbel, Frank Hasenbrink, Wolfgang Heiden, Uli Lechner, Henrik Tramberend, Gerold Wesche, Jürgen Wind: Benches and Caves. In: IECON '98. 24th Annual Conference of the IEEE Industrial Electronics Society, 1998, S. 1996-1999
doi:10.1109/IECON.1998.724024 BibTeX | RIS

J. Strassner, W. Heiden: Encountering virtual Worlds - State-of-the-art Report Virtual Environments. In: Anigraph'98 Proceedings. May 20-23, 1998, Moscow, Russia, 1998, S. 11-32
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