Publikationen von U. Kornak

N. Ehmke, A. Caliebe, R. Koenig, S. G. Kant, Z. Stark, V. Cormier-Daire, D. Wieczorek, G. Gillessen-Kaesbach, K. Hoff, A. Kawalia, H. Thiele, J. Altmuller, B. Fischer-Zirnsak, A. Knaus, N. Zhu, V. Heinrich, C. Huber, I. Harabula, M. Spielmann, D. Horn, U. Kornak, J. Hecht, P. M. Krawitz, P. Nurnberg, R. Siebert, H. Manzke, and S. Mundlos, "Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome," The American Journal of Human Genetics 95 (6), 763-770 (2014).

T. Zemojtel, S. Köhler, L. Mackenroth, M. Jäger, J. Hecht, P. Krawitz, L. Graul-Neumann, S. Doelken, N. Ehmke, M. Spielmann, N. C. Oien, M. R. Schweiger, U. Krüger, G. Frommer, B. Fischer, U. Kornak, R. Flöttmann, A. Ardeshirdavani, Y. Moreau, S. E. Lewis, M. Haendel, D. Smedley, D. Horn, S. Mundlos, and P. N. Robinson, "Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome," Science Translational Madicine 6 (252), 252ra123 (2014).

B. Fischer, B. Callewaert, P. Schroter, P. J. Coucke, C. Schlack, C. E. Ott, M. Morroni, W. Homann, S. Mundlos, E. Morava, A. Ficcadenti, and U. Kornak, "Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1," Molecular Genetics and Metabolism 112 (4), 310-316 (2014).

U. Kornak, I. Mademan, M. Schinke, M. Voigt, P. Krawitz, J. Hecht, F. Barvencik, T. Schinke, S. Giesselmann, F. T. Beil, A. Pou-Serradell, J. J. Vilchez, C. Beetz, T. Deconinck, V. Timmerman, C. Kaether, P. De Jonghe, C. A. Hubner, A. Gal, M. Amling, S. Mundlos, J. Baets, and I. Kurth, "Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3," Brain 137 (3), 683-692 (2014).

Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Oßwald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A. Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, and Mateusz Kolanczyk, "Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1," PLoS One 9 (1), e86115 (2014).

B. Fischer, A. Dimopoulou, J. Egerer, T. Gardeitchik, A. Kidd, D. Jost, H. Kayserili, Y. Alanay, I. Tantcheva-Poor, E. Mangold, C. Daumer-Haas, S. Phadke, R. I. Peirano, J. Heusel, C. Desphande, N. Gupta, A. Nanda, E. Felix, E. Berry-Kravis, M. Kabra, R. A. Wevers, L. van Maldergem, S. Mundlos, E. Morava, and U. Kornak, "Further characterization of ATP6V0A2-related autosomal recessive cutis laxa," Human Genetics 131 (11), 1761-1773 (2012).

Mateusz Kolanczyk, Markus Pech, Tomasz Zemojte, Hiroshi Yamamoto, Ivan Mikula, Maria-Antonietta Calvaruso, Mariel van den Brand, Ricarda Richter, Bjoern Fischer, Anita Ritz, Nadine Kossler, Boris Thurisch, Ralf Spoerle, Jan Smeitink, Uwe Kornak, Danny Chan, Martin Vingron, Pavel Martasek, Robert N. Lightowlers, Leo Nijtmans, Markus Schuelke, Knud H. Nierhaus, and Stefan Mundlos, "NOA1 is an essential GTPase required for mitochondrial protein synthesis," Molecular Biology of the Cell 22 (1), 1-11 (2011).

U. Kornak, "Animal models with pathological mineralization phenotypes," Joint Bone Spine 78 (6), 561-7 (2011).

M. Mohamed, D. Kouwenberg, T. Gardeitchik, U. Kornak, R. A. Wevers, and E. Morava, "Metabolic cutis laxa syndromes," J Inherit Metab Dis 34 (4), 907-16 (2011).

E. Morava, J. Kuhnisch, J. M. Drijvers, J. H. Robben, C. Cremers, P. van Setten, A. Branten, S. Stumpp, A. de Jong, K. Voesenek, S. Vermeer, A. Heister, H. L. Claahsen-van der Grinten, C. W. O'Neill, M. A. Willemsen, D. Lefeber, P. M. Deen, U. Kornak, H. Kremer, and R. A. Wevers, "Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family," J Clin Endocrinol Metab 96 (1), E189-98 (2011).

A. Pangrazio, B. Cassani, M. M. Guerrini, J. C. Crockett, V. Marrella, L. Zammataro, D. Strina, A. Schulz, C. Schlack, U. Kornak, D. J. Mellis, A. Duthie, M. H. Helfrich, A. Durandy, D. Moshous, A. Vellodi, R. Chiesa, P. Veys, N. L. Iacono, P. Vezzoni, A. Fischer, A. Villa, and C. Sobacchi, "RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations," J Bone Miner Res (2011).

D. L. Skidmore, D. Chitayat, T. Morgan, A. Hinek, B. Fischer, A. Dimopoulou, G. Somers, W. Halliday, S. Blaser, Y. Diambomba, E. G. Lemire, U. Kornak, and S. P. Robertson, "Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS)," Am J Med Genet A 155A (8), 1848-56 (2011).

Beate Albrecht, Arjan P. de Brouwer, Dirk J. Lefeber, Kirsten Cremer, Ingrid Hausser, Nick Rossen, Saskia B. Wortmann, Ron A. Wevers, Uwe Kornak, and Eva Morava, "MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.," American Journal of Medical Genetics. Part A. 152A (11), 2916-2918 (2010).

D. L. Belavy, O. Bock, H. Borst, G. Armbrecht, U. Gast, C. Degner, G. Beller, H. Soll, M. Salanova, H. Habazettl, M. Heer, A. de Haan, D. F. Stegeman, P. Cerretelli, D. Blottner, J. Rittweger, C. Gelfi, U. Kornak, and D. Felsenberg, "The 2nd Berlin BedRest Study: protocol and implementation," Journal of Musculoskeletal and Neuronal Interaction 10 (3), 207-219 (2010).

A. V. Neutzsky-Wulff, N. A. Sims, C. Supanchart, U. Kornak, D. Felsenberg, I. J. Poulton, T. J. Martin, M. A. Karsdal, and K. Henriksen, "Severe developmental bone phenotype in ClC-7 deficient mice.," Developmental Biology 344 (2), 1001-1010 (2010).

F. Brancati, P. Fortugno, I. Bottillo, M. Lopez, E. Josselin, O. Boudghene-Stambouli, E. Agolini, L. Bernardini, E. Bellacchio, M. Iannicelli, A. Rossi, A. Dib-Lachachi, L. Stuppia, G. Palka, S. Mundlos, S. Stricker, U. Kornak, G. Zambruno, and B. Dallapiccola, "Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome," American Journal of Human Genetics 87 (2), 265-273 (2010).

S. Weinert, S. Jabs, C. Supanchart, M. Schweizer, N. Gimber, M. Richter, J. Rademann, T. Stauber, U. Kornak, and T. J. Jentsch, "Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.," Science 328 (5984), 1401-1403 (2010).

M. C. de Vernejoul and U. Kornak, "Heritable sclerosing bone disorders: presentation and new molecular mechanisms.," Annals of the New York Academy of Sciences 1192, 269-277 (2010).

S. R. Phadke, B. Fischer, N. Gupta, P. Ranganath, M. Kabra, and U. Kornak, "Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.," Indian J Med Res 131, 508-514 (2010).

U. Kornak, F. Brancati, M. Le Merrer, K. Lichtenbelt, W. Höhne, S. Tinschert, F. G. Garaci, B. Dallapiccola, and P. Nürnberg, "Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.," American Journal of Medical Genetics Part A 152A (4), 870-874 (2010).