A RESTRICTED SPECTRUM OF NRAS MUTATION CAUSES NOONAN SYNDROME

Giuseppe Zampino, Marco Tartaglia, Ion C. Cirstea, 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. PattonMargherita Cirillo Silengo, Cesare Rossi, Cristina Digilio, Liborio Stuppia, Eva Seemanova, Len A. Pennacchio, Bruce D. Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad R. Ahmadian, Martin Zenker

Risultato della ricerca: Contributo in rivistaArticolo in rivista

207 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)27-29
Numero di pagine3
RivistaNature Genetics
Volume42 (1)
Stato di pubblicazionePubblicato - 2010

Keywords

  • NOONAN SYNDROME

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