Publikationen von U. Kornak

H. Kunte, G. Trendelenburg, J. Matzen, M. Ventz, U. Kornak, and L. Harms, "Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.," Neuro Endocrinology Letters 31 (3), 301-303 (2010).

Mailys Guillard, Aikaterini Dimopoulou, Björn Fischer, Eva Morava, Dirk J. Lefeber, Uwe Kornak, and Ron A. Wevers, "Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa," Biochimica et Biophysica Acta - Molecular Basis of Disease 1792, 903-914 (2009).

Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C. Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hülya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D. O'Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F. Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, Paola Ferrari, Arti Nanda, Anna Rajab, David Markie, Mary Gray, John Nelson, Arthur Grix, Annemarie Sommer, Ravi Savarirayan, Andreas R. Janecke, Elisabeth Steichen, David Sillence, Ingrid Haußer, Birgit Budde, Gudrun Nürnberg, Peter Nürnberg, Petra Seemann, Désirée Kunkel, Giovanna Zambruno, Bruno Dallapiccola, Markus Schuelke, Stephen Robertson, Hanan Hamamy, Bernd Wollnik, Lionel Van Maldergem, Stefan Mundlos, and Uwe Kornak, "Mutations in PYCR1 cause cutis laxa with progeroid features," Nature Genetics 41, 1016-1021 (2009).

Claus-Eric Ott, Sebastian Bauer, Thomas Manke, Susan Ahrens, Christian Rödelsperger, Johannes Grünhagen, Uwe Kornak, Georg Duda, Stefan Mundlos, and Peter N. Robinson, "Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts," Journal of Bone and Mineral Research 24 (7), 1247-1262 (2009).

Vishwanathan Hucthagowder, Eva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer, Aikaterini Dimopoulou, Annika Aldinger, Jiwon Choi, Elaine C. Davis, Dianne N. Abuelo, Maciej Adamowicz, Jumana Al-Aama, Lina Basel-Vanagaite, Bridget Fernandez, Marie T. Greally, Gabriele Gillessen-Kaesbach, Hulya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tuysuz, Berrin Yüksel-Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, and Zsolt Urban, "Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival," Human Molecular Genetics 18 (12), 2149-2165 (2009).

Thorsten Schinke, Arndt F. Schilling, Anke Baranowsky, Sebastian Seitz, Robert P. Marshall, Tilman Linn, Michael Blaeker, Antje K. Huebner, Ansgar Schulz, Ronald Simon, Matthias Gebauer, Matthias Priemel, Uwe Kornak, Sandra Perkovic, Florian Barvencik, F. Timo Beil, Andrea Del Fattore, Annalisa Frattini, Thomas Streichert, Klaus Pueschel, Anna Villa, Klaus-Michael Debatin, Johannes M. Rueger, Anna Teti, Jozef Zustin, Guido Sauter, and Michael Amling, "Impaired gastric acidification negatively affects calcium homeostasis and bone mass," Nature Medicine 15, 674-681 (2009).

Mateusz Kolanczyk, Jirko Kühnisch, Nadine Kossler, Monika Osswald, Sabine Stumpp, Boris Thurisch, Uwe Kornak, and Stefan Mundlos, "Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin," BMC Medicine 31 (6), 21-21 (2008).

Anna Rajab, U. Kornak, B. S. Budde, K. Hoffmann, J. Jaeken, P. Nürnberg, and S. Mundlos, "Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman," American Journal of Medical Genetics Part A 146A (8), 965-976 (2008).

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, Jeroen van Reeuwijk, Bjoern Fischer, Anna Rajab, Birgit Budde, Peter Nürnberg, Francois Foulquier, Dirk Lefeber, Zsolt Urban, Stephanie Gruenewald, Wim Annaert, Han G Brunner, Hans van Bokhoven, Ron Wevers, Eva Morava, Gert Matthijs, Lionel Van Maldergem, and Stefan Mundlos (ed), "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2," Nature Genetics 40 (1), 32-34 (2008).

Mateusz Kolanczyk, Nadine Kossler, Jirko Kühnisch, Liron Lavitas, Sigmar Stricker, Ulrich Wilkening, Inderchand Manjubala, Peter Fratzl, Ralf Spörle, Bernhard G. Herrmann, Luis F. Parada, Uwe Kornak, and Stefan Mundlos, "Multiple roles for neurofibromin in skeletal development and growth.," Human Molecular Genetics 16 (8), 232-240 (2007).

Jochen Hecht, Volkhard Seitz, Maren Urban, F. Wagner, P. N. Robinson, A. Stiege, C. Dieterich, Uwe Kornak, Ulrich Wilkening, Norbert Brieske, C. Zwingman, A. Kidess, Sigmar Stricker, and Stefan Mundlos, "Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model," Gene Expression Patterns: A Section of Brain Research Devoted to Patterns of Expression of Genes during the Development, Maturity and Aging of the Central Nervous System 7 (1 - 2), 102-112 (2007).

Andrea N. Albrecht, Uwe Kornak, Annett Böddrich, Kathrin Süring, Peter N. Robinson, Asita C. Stiege, Rudi Lurz, Siegmar Stricker, Erich E. Wanker, and Stefan Mundlos, "A molecular pathogenesis for transcription factor associated poly-alanine tract expansions," Human Molecular Genetics 13 (20), 2351-2359 (2004).

Alfredo Ramirez, Julia Faupel, Ingrid Goebel, Anne Stiller, Susanne Beyer, Christina Stockle, Carola Hasan, Udo Bode, Uwe Kornak, and Christian Kubisch, "Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis," Human Mutation 23 (5), 471-476 (2004).

Uwe Kornak and Stefan Mundlos, "Genetic disorders of the skeleton: a developmental approach," American Journal of Human Genetics 73 (3), 447-474 (2003).

Uwe Kornak, Dagmar Kasper, Ansgar Schulz, Guenter Delling, Marie-Christine De Vernejoul, and Thomas J. Jentsch, "The ClC-7 chloride channel as a regulator of bone resorption in mice and man," Journal of General Physiology 122 (1), 9a-9a (2003).

K. J. Borthwick, N. Kandemir, R. Topaloglu, U. Kornak, A. Bakkaloglu, N. Yordam, S. Ozen, H. Mocan, G. N. Shah, W. S. Sly, and F. E. Karet, "A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis," Journal of Medical Genetics 40 (2), 115-121 (2003).

Mike Bridavsky, Heiner Kuhl, Arthur Woodruff, Uwe Kornak, Bernd Timmermann, Norbert Mages, 99 Lives Consortium, Dario G. Lupiáñez, Orsolya Symmons, and Daniel M. Ibrahim, "Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly", in bioRxiv: the preprint server for biology, (Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 2019).