Katarina Lehmann

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. ncbi An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation
    Katarina Lehmann
    , , Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Pediatr 164:530-1. 2005
  2. ncbi A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Hum Genet 14:1248-54. 2006
  3. ncbi A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN
    K Lehmann
    Institut fur Medizinische Genetik, Universitatsmedizin Berlin Charite, Berlin, Germany, and Regional Genetic Service, Royal Manchester Children s Hospital, UK
    Am J Hum Genet 81:388-96. 2007
  4. ncbi Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005
  5. ncbi Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Humboldt Universitat, Charite, Augustenburger Platz 1, 13353 Berlin, Germany
    Proc Natl Acad Sci U S A 100:12277-82. 2003
  6. ncbi Axonal damage induced by invading T cells in organotypic central nervous system tissue in vitro: involvement of microglial cells
    U Gimsa
    Department of Cell and Neurobiology, Institute of Anatomy, Humboldt University Clinic Charité, Berlin, Germany
    Brain Pathol 10:365-77. 2000
  7. ncbi A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
    E Klopocki
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Med Genet 45:370-5. 2008
  8. ncbi Catel-Manzke syndrome: two new patients and a critical review of the literature
    Hermann Manzke
    Privat, Heikendorf, Germany
    Eur J Med Genet 51:452-65. 2008
  9. ncbi Brachydactyly type A2 associated with a defect in proGDF5 processing
    Frank Plöger
    Biopharm GmbH, 69115 Heidelberg, Germany
    Hum Mol Genet 17:1222-33. 2008
  10. ncbi Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
    Sofia Douzgou
    IRCCS CSS San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 146:2116-21. 2008

Detail Information

Publications12

  1. ncbi An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation
    Katarina Lehmann
    , , Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Pediatr 164:530-1. 2005
  2. ncbi A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Hum Genet 14:1248-54. 2006
    ..Disturbances of NOG-GDF5-BMPR1B signaling cascade can result in similar clinical manifestations depending on the quantitative effect and mode of action of the specific mutations within the same functional pathway...
  3. ncbi A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN
    K Lehmann
    Institut fur Medizinische Genetik, Universitatsmedizin Berlin Charite, Berlin, Germany, and Regional Genetic Service, Royal Manchester Children s Hospital, UK
    Am J Hum Genet 81:388-96. 2007
    ....
  4. ncbi Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005
    ..The presented experiments have identified some of the main determinants of GDF5 receptor-binding specificity in vivo and open new prospects for generating antagonists and superagonists of GDF5...
  5. ncbi Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Humboldt Universitat, Charite, Augustenburger Platz 1, 13353 Berlin, Germany
    Proc Natl Acad Sci U S A 100:12277-82. 2003
    ..These findings imply that both mutations identified in human BMPR1B affect cartilage formation in a dominant-negative manner...
  6. ncbi Axonal damage induced by invading T cells in organotypic central nervous system tissue in vitro: involvement of microglial cells
    U Gimsa
    Department of Cell and Neurobiology, Institute of Anatomy, Humboldt University Clinic Charité, Berlin, Germany
    Brain Pathol 10:365-77. 2000
    ..Thus, MBP-specific T cells which invade nervous tissue in the course of neuroinflammation are more effective in axon-damaging recruiting microglial cells than activated T cells of other specificities...
  7. ncbi A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
    E Klopocki
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Med Genet 45:370-5. 2008
    ..Even though this association is well established, its molecular mechanism remains unclear...
  8. ncbi Catel-Manzke syndrome: two new patients and a critical review of the literature
    Hermann Manzke
    Privat, Heikendorf, Germany
    Eur J Med Genet 51:452-65. 2008
    ..In addition, we sequenced candidate genes which are known to be involved in phalangeal development. However, no pathogenic aberrations or mutations were found...
  9. ncbi Brachydactyly type A2 associated with a defect in proGDF5 processing
    Frank Plöger
    Biopharm GmbH, 69115 Heidelberg, Germany
    Hum Mol Genet 17:1222-33. 2008
    ..In contrast to mature rhGDF5, (rh) proGDF5 shows a high solubility at physiological pH, a characteristic that might be useful for therapeutic applications...
  10. ncbi Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
    Sofia Douzgou
    IRCCS CSS San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 146:2116-21. 2008
    ..The unaffected mother and the father who presented with mild brachybaso/mesophalangy of all digits were both heterozygous carriers...
  11. ncbi Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
    Jeffrey W Innis
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Hum Mol Genet 13:2841-51. 2004
    ..In vitro translation efficiency of the HOXA13(ALA28) protein was normal. Thus, loss of function is secondary to a reduction in the in vivo abundance of the expanded protein likely due to degradation...
  12. ncbi Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    J Med Genet 44:131-5. 2007
    ..Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC...