Affiliation: Humboldt University
- Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatinMateusz Kolanczyk
Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany
BMC Med 6:21. 2008..Taking advantage of this experimental model we explore effects of systemically applied lovastatin, a cholesterol-lowering drug, on the Nf1 deficient bone repair...
- Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type IIU Kornak
Max Planck Institute for Molecular Genetics and Institute for Medical Genetics, Charite University Hospital, D 13353 Berlin, Germany
J Clin Endocrinol Metab 91:995-1000. 2006..The fact that mutations in the ClC-7 chloride channel cause autosomal dominant osteopetrosis (ADOII) make the CLCN7 gene an attractive candidate for the regulation of bone density...
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak
Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany
Nat Genet 40:32-4. 2008..These results indicate that the a2 subunit of the proton pump has an important role in Golgi function...
- Animal models with pathological mineralization phenotypesUwe Kornak
Institute for Medical Genetics and Human Genetics, Charite Universitaetsmedizin Berlin, Berlin, Germany
Joint Bone Spine 78:561-7. 2011..This article gives a summary on what we have learned from different mouse models with pathologic mineralization phenotypes about the role of these inhibitors and the regulation of mineralization promoting factors...
- Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosisU Kornak
Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Germany
Hum Mol Genet 9:2059-63. 2000..Our work shows that mutations in the gene encoding the a3 subunit of the proton pump are a rather common cause of infantile osteopetrosis and suggests that this disease is genetically heterogeneous...
- Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and manU Kornak
Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, D 20246, Hamburg, Germany
Cell 104:205-15. 2001..We conclude that ClC-7 provides the chloride conductance required for an efficient proton pumping by the H(+)-ATPase of the osteoclast ruffled membrane...
- A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosisK J Borthwick
Department of Medical Genetics, Cambridge University, Cambridge, UK
J Med Genet 40:115-21. 2003....
- Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1)U Kornak
Zentrum für Molekulare Neurobiologie Hamburg ZMNH, Universitat Hamburg, Martinistrasse 85, 20246, Hamburg, Germany
Biochim Biophys Acta 1447:100-6. 1999..Moreover, no significant gene structure homology to other members of the CLC family could be detected indicating a great structural diversity of mammalian CLC genes...
- Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from OmanAnna Rajab
Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
Am J Med Genet A 146:965-76. 2008..The known loci for cutis laxa and WSS on 2q31, 5q23-q31, 7q11, 11q13, and 14q32 were excluded. We suggest that WSS and GO are distinct entities with overlapping features...