Uwe Kornak
TitoloCitata daAnno
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
U Kornak, D Kasper, MR Bsl, E Kaiser, M Schweizer, A Schulz, ...
Cell 104 (2), 205-215, 2001
9612001
Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis
U Kornak, A Schulz, W Friedrich, S Uhlhaas, B Kremens, T Voit, C Hasan, ...
Human molecular genetics 9 (13), 2059-2063, 2000
3772000
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32-34, 2008
3122008
Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration
D Kasper, R Planells‐Cases, JC Fuhrmann, O Scheel, O Zeitz, K Ruether, ...
The EMBO journal 24 (5), 1079-1091, 2005
3112005
Cannabinoid receptor type 2 gene is associated with human osteoporosis
M Karsak, M Cohen-Solal, J Freudenberg, A Ostertag, C Morieux, ...
Human molecular genetics 14 (22), 3389-3396, 2005
2132005
Mutations in PYCR1 cause cutis laxa with progeroid features
B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ...
Nature genetics 41 (9), 1016, 2009
1962009
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
1832013
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
T Zemojtel, S Khler, L Mackenroth, M Jger, J Hecht, P Krawitz, ...
Science translational medicine 6 (252), 252ra123-252ra123, 2014
1752014
Genetic disorders of the skeleton: a developmental approach
U Kornak, S Mundlos
The American Journal of Human Genetics 73 (3), 447-474, 2003
1712003
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
AN Albrecht, U Kornak, A Bddrich, K Sring, PN Robinson, AC Stiege, ...
Human molecular genetics 13 (20), 2351-2359, 2004
1642004
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
M Pot, U Kornak, M Schweizer, AA Zdebik, O Scheel, S Hoelter, W Wurst, ...
Proceedings of the National Academy of Sciences 103 (37), 13854-13859, 2006
1612006
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl–accumulation
S Weinert, S Jabs, C Supanchart, M Schweizer, N Gimber, M Richter, ...
Science 328 (5984), 1401-1403, 2010
1582010
Impaired gastric acidification negatively affects calcium homeostasis and bone mass
T Schinke, AF Schilling, A Baranowsky, S Seitz, RP Marshall, T Linn, ...
Nature medicine 15 (6), 674, 2009
1492009
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
HC Hennies, U Kornak, H Zhang, J Egerer, X Zhang, W Seifert, ...
Nature genetics 40 (12), 1410, 2008
1342008
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ...
Human molecular genetics 18 (12), 2149-2165, 2009
1182009
Multiple roles for neurofibromin in skeletal development and growth
M Kolanczyk, N Kossler, J Khnisch, L Lavitas, S Stricker, U Wilkening, ...
Human molecular genetics 16 (8), 874-886, 2007
1122007
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
KJ Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, ...
Journal of medical genetics 40 (2), 115-121, 2003
1042003
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model
J Hecht, V Seitz, M Urban, F Wagner, PN Robinson, A Stiege, C Dieterich, ...
Gene Expression Patterns 7 (1-2), 102-112, 2007
862007
Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone
AN Smith, F Jouret, S Bord, KJ Borthwick, RS Al-Lamki, CA Wagner, ...
Journal of the American Society of Nephrology 16 (5), 1245-1256, 2005
832005
Inactivation of anoctamin‐6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues
HWA Ehlen, M Chinenkova, M Moser, HM Munter, Y Krause, S Gross, ...
Journal of Bone and Mineral Research 28 (2), 246-259, 2013
802013
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