Stefan Mundlos Profile Page
| Organisation: | Charité |
| Institute: | Institute for Medical Genetics |
| Address: | Augustenburgerplatz 1 13353 Berlin |
| Campus: | Virchow Klinikum |
| E-Mail: | This e-mail address is being protected from spam bots, you need JavaScript enabled to view it |
| Field: | Medical genetics |
| Track(s): | Bio;Med |
| CV: | 2000-present Head of Institute for Medical Genetics, Charité, Berlin 1999 Head of the Division of Developmental Genetics at the Institute of Human Genetics, Ruprecht Karls Universität, Heidelberg 1998 Board Certification in Human Genetics 1997 Habilitation, Johannes Gutenberg University Mainz 1996-1999 Instructor in Pediatric Medicine and Genetics, Children´s Hospital, Johannes Gutenberg Universität, Mainz 1994-1996 Harvard Medical School, Boston, USA. Work in the laboratory of Prof. B.R. Olsen, Dept. of Cell Biology, on the molecular pathogenesis of skeletal disease 1993-1994 Royal Children´s Hospital and Murdoch institute for Research into Birth Defects, University of Melbourne, Australia. 1992 Board Certification in Pediatrics 1987-1992 Residency in Pediatric Medicine and Human Genetics at the Children´s Hospital of the Johannes Gutenberg Universität, Mainz 1987 Dr. med., Philipps Universität Marburg 1985 MD, Ruprecht Karls Universität, Heidelberg 1984 School of Medicine, Philipps Universität Marburg 1978-1981 School of Medicine, Georg August Universität Göttingen |
| Research Interests: | main field: Human Genetics other fields: skeletal development, skeletal disease, limb development, regeneration of bone, muscle development current research interest: molecular basis of variability and penetrance, differentiation of bone and cartilage cells, rare recessive diseases |
| Publications: | Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S (2006) Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome. Am J Hum Genet 79: 402-408. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E,Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S (2006) Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal gamma Subunit. Am J Hum Genet 79: 303-312 Hecht J, Kuhl H, Haas SA, Bauer S, Poustka AJ, Lienau J, Schell H, Stiege AC, Seitz V, Reinhardt R, Duda GN, Mundlos S, Robinson PN (2006) Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics 71: 172 Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 115: 2373-2381 Albrecht A, Mundlos S (2005) The other trinucleotide repeat: polyalanine expansion disorders.Curr Opin Genet Dev 15: 285-293 Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S (2005) An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest 115: 900-909 Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S (2004) A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet 13: 2351-2359 Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Hohne W, Ritter H, Leschik G, Nurnberg P, Mundlos S (2004) Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA 101: 10155-10160 Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci USA 100: 12277-12282 Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779 |
