| Literature DB >> 19966803 |
Ion C Cirstea1, Kerstin Kutsche, Radovan Dvorsky, Lothar Gremer, Claudio Carta, Denise Horn, Amy E Roberts, Francesca Lepri, Torsten Merbitz-Zahradnik, Rainer König, Christian P Kratz, Francesca Pantaleoni, Maria L Dentici, Victoria A Joshi, Raju S Kucherlapati, Laura Mazzanti, Stefan Mundlos, Michael A Patton, Margherita Cirillo Silengo, Cesare Rossi, Giuseppe Zampino, Cristina Digilio, Liborio Stuppia, Eva Seemanova, Len A Pennacchio, Bruce D Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad R Ahmadian, Marco Tartaglia, Martin Zenker.
Abstract
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth.Entities:
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Year: 2009 PMID： 19966803 PMCID： PMC3118669 DOI： 10.1038/ng.497
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330