TY - JOUR
T1 - A restricted spectrum of NRAS mutations causes Noonan syndrome
AU - Cirstea, Ion C.
AU - Kutsche, Kerstin
AU - Dvorsky, Radovan
AU - Gremer, Lothar
AU - Carta, Claudio
AU - Horn, Denise
AU - Roberts, Amy E.
AU - Lepri, Francesca
AU - Merbitz-Zahradnik, Torsten
AU - König, Rainer
AU - Kratz, Christian P.
AU - Pantaleoni, Francesca
AU - Dentici, Maria L.
AU - Joshi, Victoria A.
AU - Kucherlapati, Raju S.
AU - Mazzanti, Laura
AU - Mundlos, Stefan
AU - Patton, Michael A.
AU - Silengo, Margherita Cirillo
AU - Rossi, Cesare
AU - Zampino, Giuseppe
AU - Digilio, Cristina
AU - Stuppia, Liborio
AU - Seemanova, Eva
AU - Pennacchio, Len A.
AU - Gelb, Bruce D.
AU - Dallapiccola, Bruno
AU - Wittinghofer, Alfred
AU - Ahmadian, Mohammad R.
AU - Tartaglia, Marco
AU - Zenker, Martin
PY - 2010/1
Y1 - 2010/1
N2 - 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.
AB - 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.
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U2 - 10.1038/ng.497
DO - 10.1038/ng.497
M3 - Article
C2 - 19966803
AN - SCOPUS:73349131391
VL - 42
SP - 27
EP - 29
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 1
ER -