Genomes and Genes
Affiliation: Humboldt University
- An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutationKatarina Lehmann
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Pediatr 164:530-1. 2005
- A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2Katarina 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...
- A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGINK 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....
- Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2Petra 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...
- Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Katarina 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...
- Axonal damage induced by invading T cells in organotypic central nervous system tissue in vitro: involvement of microglial cellsU 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...
- A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndromeE 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...
- Catel-Manzke syndrome: two new patients and a critical review of the literatureHermann 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...
- Brachydactyly type A2 associated with a defect in proGDF5 processingFrank 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...
- Compound heterozygosity for GDF5 in Du Pan type chondrodysplasiaSofia 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...
- Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse modelJeffrey 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...
- Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin 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...