U Kornak

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. pmc Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin
    Mateusz Kolanczyk
    Max Planck Institute for Molecular Genetics, FG Development and Disease, Berlin, Germany
    BMC Med 6:21. 2008
  2. ncbi request reprint Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II
    U 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
  3. ncbi request reprint Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
    Uwe Kornak
    Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nat Genet 40:32-4. 2008
  4. doi request reprint Animal models with pathological mineralization phenotypes
    Uwe Kornak
    Institute for Medical Genetics and Human Genetics, Charite Universitaetsmedizin Berlin, Berlin, Germany
    Joint Bone Spine 78:561-7. 2011
  5. ncbi request reprint Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
    U Kornak
    Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Germany
    Hum Mol Genet 9:2059-63. 2000
  6. ncbi request reprint Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
    U Kornak
    Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, D 20246, Hamburg, Germany
    Cell 104:205-15. 2001
  7. pmc A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
    K J Borthwick
    Department of Medical Genetics, Cambridge University, Cambridge, UK
    J Med Genet 40:115-21. 2003
  8. ncbi request reprint 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
  9. doi request reprint Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
    Anna Rajab
    Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
    Am J Med Genet A 146:965-76. 2008

Collaborators

Detail Information

Publications9

  1. pmc Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin
    Mateusz 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...
  2. ncbi request reprint Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II
    U 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...
  3. ncbi request reprint Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
    Uwe 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...
  4. doi request reprint Animal models with pathological mineralization phenotypes
    Uwe 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...
  5. ncbi request reprint Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
    U 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...
  6. ncbi request reprint Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
    U 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...
  7. pmc A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
    K J Borthwick
    Department of Medical Genetics, Cambridge University, Cambridge, UK
    J Med Genet 40:115-21. 2003
    ....
  8. ncbi request reprint 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...
  9. doi request reprint Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
    Anna 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...