Publications of U. Kornak

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

Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D. J.; Kornak, U.; Wevers, R. A.: Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of Disease 1792, pp. 903 - 914 (2009)

Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.; Shboul, M.; Tham, P.-Y.; Kayserili, H.; Al-Gazali, L. et al.; Shahwan, M.; Brancati, F.; Lee, H.; O'Connor, B. D.; Schmidt-von Kegler, M.; Merriman, B.; Nelson, S. F.; Masri, A.; Alkazaleh, F.; Guerra, D.; Ferrari, P.; Nanda, A.; Rajab, A.; Markie, D.; Gray, M.; Nelson, J.; Grix, A.; Sommer, A.; Savarirayan, R.; Janecke, A. R.; Steichen, E.; Sillence, D.; Haußer, I.; Budde, B.; Nürnberg, G.; Nürnberg, P.; Seemann, P.; Kunkel, D.; Zambruno, G.; Dallapiccola, B.; Schuelke, M.; Robertson, S.; Hamamy, H.; Wollnik, B.; Van Maldergem, L.; Mundlos, S.; Kornak, U.: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 41, pp. 1016 - 1021 (2009)

Ott, C.-E.; Bauer, S.; Manke, T.; Ahrens, S.; Rödelsperger, C.; Grünhagen, J.; Kornak, U.; Duda, G.; Mundlos, S.; Robinson, P. N.: Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 24 (7), pp. 1247 - 1262 (2009)

Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D. J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E. C.; Abuelo, D. N. et al.; Adamowicz, M.; Al-Aama, J.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M. T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Türkmen, S.; Tuysuz, B.; Yüksel-Konuk, B.; Mundlos, S.; Van Maldergem, L.; Wevers, R. A.; Urban, Z.: Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 18 (12), pp. 2149 - 2165 (2009)

Schinke, T.; Schilling, A. F.; Baranowsky, A.; Seitz, S.; Marshall, R. P.; Linn, T.; Blaeker, M.; Huebner, A. K.; Schulz, A.; Simon, R. et al.; Gebauer, M.; Priemel, M.; Kornak, U.; Perkovic, S.; Barvencik, F.; Beil, F. T.; Del Fattore, A.; Frattini, A.; Streichert, T.; Pueschel, K.; Villa, A.; Debatin, K.-M.; Rueger, J. M.; Teti, A.; Zustin, J.; Sauter, G.; Amling, M.: Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine 15, pp. 674 - 681 (2009)

Kolanczyk, M.; Kühnisch, J.; Kossler, N.; Osswald, M.; Stumpp, S.; Thurisch, B.; Kornak, U.; Mundlos, S.: Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine 31 (6), p. 21 - 21 (2008)

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

Kornak, U.; Reynders, E.; Dimopoulou, A.; van Reeuwijk, J.; Fischer, B.; Rajab, A.; Budde, B.; Nürnberg, P.; Foulquier, F.; Lefeber, D. et al.; Urban, Z.; Gruenewald, S.; Annaert, W.; Brunner, H. G.; van Bokhoven, H.; Wevers, R.; Morava, E.; Matthijs, G.; Van Maldergem, L.; Mundlos, S.: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 40 (1), pp. 32 - 34 (2008)

Kolanczyk, M.; Kossler, N.; Kühnisch, J.; Lavitas, L.; Stricker, S.; Wilkening, U.; Manjubala, I.; Fratzl, P.; Spörle, R.; Herrmann, B. G. et al.; Parada, L. F.; Kornak, U.; Mundlos, S.: Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 16 (8), pp. 232 - 240 (2007)

Hecht, J.; Seitz, V.; Urban, M.; Wagner, F.; Robinson, P. N.; Stiege, A.; Dieterich, C.; Kornak, U.; Wilkening, U.; Brieske, N. et al.; Zwingman, C.; Kidess, A.; Stricker, S.; Mundlos, S.: 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), pp. 102 - 112 (2007)

Albrecht, A. N.; Kornak, U.; Böddrich, A.; Süring, K.; Robinson, P. N.; Stiege, A. C.; Lurz, R.; Stricker, S.; Wanker, E. E.; Mundlos, S.: A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 13 (20), pp. 2351 - 2359 (2004)

Ramirez, A.; Faupel, J.; Goebel, I.; Stiller, A.; Beyer, S.; Stockle, C.; Hasan, C.; Bode, U.; Kornak, U.; Kubisch, C.: Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human Mutation 23 (5), pp. 471 - 476 (2004)

Kornak, U.; Mundlos, S.: Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 73 (3), pp. 447 - 474 (2003)

Kornak, U.; Kasper, D.; Schulz, A.; Delling, G.; De Vernejoul, M.-C.; Jentsch, T. J.: The ClC-7 chloride channel as a regulator of bone resorption in mice and man. Journal of General Physiology 122 (1), p. 9a - 9a (2003)

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

Bridavsky, M.; Kuhl, H.; Woodruff, A.; Kornak, U.; Timmermann, B.; Mages, N.; 99 Lives Consortium; Lupiáñez, D. G.; Symmons, O.; Ibrahim, D. M.: Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly, bioRxiv: the preprint server for biology, (2019)