Publikationen von Uwe Kornak

Johannes Kopp, Leonard A. Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, and Björn Fischer-Zirnsak, "Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy," Human Genetics 143 (5), 683-694 (2024).

Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, and Björn Fischer-Zirnsak, "Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features," GENETICS IN MEDICINE 24 (9), 1927-1940 (2022).

Felix Boschann, Muhsin Ö. Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M. Grochowski, Nils R. Hansmeier, Zeynep H. Coban Akdemir, César A. Prada-Medina, Ayca Aykut, Björn Fischer-Zirnsak, Simon Badura, Burak Durmaz, Ferda Ozkinay, René Hägerling, Jennifer E. Posey, Sigmar Stricker, Gabriele Gillessen-Kaesbach, Malte Spielmann, Denise Horn, Knut Brockmann, James R. Lupski, Uwe Kornak, and Julia Schmidt, "Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis," GENETICS IN MEDICINE 24 (10), 2187-2193 (2022).

Vinzenz May, Leonard Koch, Björn Fischer-Zirnsak, Denise Horn, Petra Gehle , Uwe Kornak, Dieter Beule, and Manuel Holtgrewe, "ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise," Bioinformatics 38, 3871-3876 (2022).

Miguel Rodríguez de Los Santos, Marion Rivalan, Friederike S. David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N. Robinson , Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J. Becker, Dietmar Schmitz , York Winter, and Peter M. Krawitz, "A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions," Proceedings of the National Academy of Sciences of the United States of America 118 (2), e2014481118 (2021).

Julia Luther, Timur Alexander Yorgan, Tim Rolvien, Lorenz Ulsamer, Till Koehne, Nannan Liao, Daniela Keller, Nele Vollersen, Stefan Teufel, Mona Neven, Stephanie Peters, Michaela Schweizer, Andreas Trumpp, Sebastian Rosigkeit, Ernesto Bockamp, Stefan Mundlos, Uwe Kornak, Ralf Oheim, Michael Amling, Thorsten Schinke, and Jean-Pierre David, "Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand," Science Translational Medicine 10 (466), eaau7137 (2018).

Tim Rolvien, Julian Stürznickel, Felix N. Schmidt, Sebastian Butscheidt, Tobias Schmidt, Björn Busse, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, and Ralf Oheim, "Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis," Calcified Tissue International 103 (5), 512-521 (2018).

Marco Castori, Claus-Eric Ott, Luigi Bisceglia, Maria Pia Leone, Tommaso Mazza, Stefano Castellana, Jurgen Tomassi, Silvia Lanciotti, Stefan Mundlos, Raoul C. Hennekam, Uwe Kornak, and Francesco Brancati, "A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome," American Journal of Medical Genetics Part A 176 (9), 2028-2033 (2018).

Abo Layal Khayal, Johannes Grünhagen, Ivo Provaznik, Stefan Mundlos, Uwe Kornak, Peter Robinson, and Claus-Eric Ott, "Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses," Bone 113, 29-40 (2018).

Sebastian Butscheidt, A. Delsmann, Tim Rolvien, Florian Barvencik, M. Al-Bughaili, Stefan Mundlos, T. Schinke, M. Amling, Uwe Kornak, and Ralf Oheim, "Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2," Osteoporosis International 29 (7), 1643-1651 (2018).

J. Piard, J. Lespinasse, M. Vlckova, M. Mensah, S. Lurian, M. Simandlova, M. Malikova, O. Bartsch, M. Rossi, M. Lenoir, F. Nugues, S. Mundlos, U. Kornak, P. Stanier, S. Sousa, and L. Van Maldergem, "Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1," American Journal of Medical Genetics Part A 176 (3), 668-675 (2018).

Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M. Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, and Uwe Kornak, "Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica," PLoS Genetics 14 (3), e1007242 (2018).

Sven Geissler, Martin Textor, Sabine Stumpp, Sebastian Seitz, Anja Lekaj, Sabrina Brunk, Sabine Klaassen, Thorsten Schinke, Christoph Klein, Stefan Mundlos, Uwe Kornak, and Jirko Kühnisch, "Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation," PLoS One 13 (6), e0198510 (2018).

M. Rauner, F. Buttgereit, J. Distler, A. I. Garbe, M. Herrmann, L. Hofbauer, M. Hoffmann, R. Jessberger, U. Kornak, G. Krönke, S. Mundlos, C. Spies, J. Tuckermann, and J. Zwerina, "Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung," Zeitschrift für Rheumatologie 77 (Suppl.1), S12-S15 (2018).

T. Rolvien, U. Kornak, J. Stürznickel, T. Schinke, M. Amling, S. Mundlos, and R. Oheim, "A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern," Osteoporosis International 29 (1), 243-246 (2018).

N. Ehmke, L. Graul-Neumann, L. Smorag, R. Koenig, L. Segebrecht, P. Magoulas, F. Scaglia, E. Kilic, A. F. Hennig, N. Adolphs, N. Saha, B. Fauler, V. M. Kalscheuer, F. Hennig, J. Altmüller, C. Netzer, H. Thiele, P. Nürnberg, G. Yigit, M. Jäger, J. Hecht, U. Krüger, T. Mielke, P. M. Krawitz, D. Horn, M. Schuelke, S. Mundlos, C. A. Bacino, P. E. Bonnen, B. Wollnik, B. Fischer-Zirnsak, and U. Kornak, "De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction," The American Journal of Human Genetics 101 (5), 833-843 (2017).

W. Seifert, Y. Posor, P. Schu, G. Stenbeck, S. Mundlos, S. Klaassen, P. Nurnberg, V. Haucke, U. Kornak, and J. Kühnisch, "The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface," Human Molecular Genetics 25 (17), 3836-3848 (2016).

L. Mackenroth, B. Fischer-Zirnsak, J. Egerer, J. Hecht, T. Kallinich, W. Stenzel, B. Spors, A. von Moers, S. Mundlos, U. Kornak, K. Gerhold, and D. Horn, "An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing," American Journal of Medical Genetics Part A 170A (4), 1080-1085 (2016).

Johannes Egerer, Denise Emmerich, Björn Fischer-Zirnsak, Wing Lee Chan, David Meierhofer, Beyhan Tuysuz, Katrin Marschner, Sascha Sauer, Francis A. Barr, Stefan Mundlos, and Uwe Kornak, "GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting," The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 135 (10), 2368-2376 (2015).

M. Kolanczyk, P. Krawitz, J. Hecht, A. Hupalowska, M. Miaczynska, K. Marschner, C. Schlack, D. Emerich, K. Kobus, U. Kornak, P. N. Robinson, B. Plecko, G. Grangl, S. Uhrig, S. Mundlos, and D. Horn, "Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome," European journal of human genetics 23, 720 (2015).