Publications of U. Kornak

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

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

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

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

Kühnisch, J.; Seto, J.; Lange, C.; Schrof, S.; Stumpp, S.; Kobus, K.; Grohmann, J.; Kossler, N.; Varga, P.; Oßwald, M. et al.; Emmerich, D.; Tinschert, S.; Thielemann, F.; Duda, G.; Seifert, W.; El Khassawna, T.; Stevenson, D. A.; Elefteriou, F.; Kornak, U.; Raum, K.; Fratzl, P.; Mundlos, S.; Kolanczyk, M.: Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. PLoS One 9 (1), e86115 (2014)

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

Kolanczyk, M.; Pech, M.; Zemojte, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.-A.; van den Brand, M.; Richter, R.; Fischer, B.; Ritz, A. et al.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R. N.; Nijtmans, L.; Schuelke, M.; Nierhaus, K. H.; Mundlos, S.: NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 22 (1), pp. 1 - 11 (2011)

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

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

Morava, E.; Kuhnisch, J.; Drijvers, J. M.; Robben, J. H.; Cremers, C.; van Setten, P.; Branten, A.; Stumpp, S.; de Jong, A.; Voesenek, K. et al.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H. L.; O'Neill, C. W.; Willemsen, M. A.; Lefeber, D.; Deen, P. M.; Kornak, U.; Kremer, H.; Wevers, R. A.: 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), pp. E189 - 98 (2011)

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

Skidmore, D. L.; Chitayat, D.; Morgan, T.; Hinek, A.; Fischer, B.; Dimopoulou, A.; Somers, G.; Halliday, W.; Blaser, S.; Diambomba, Y. et al.; Lemire, E. G.; Kornak, U.; Robertson, S. P.: 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), pp. 1848 - 56 (2011)

Albrecht, B.; de Brouwer, A. P.; Lefeber, D. J.; Cremer, K.; Hausser, I.; Rossen, N.; Wortmann, S. B.; Wevers, R. A.; Kornak, U.; Morava, E.: MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. American Journal of Medical Genetics. Part A. 152A (11), pp. 2916 - 2918 (2010)

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

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

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

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

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

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

Kornak, U.; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.: 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), pp. 870 - 874 (2010)