A restricted spectrum of NRAS mutations causes Noonan syndrome.
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A restricted spectrum of NRAS mutations causes Noonan syndrome. / Cirstea, Ion C; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E; Lepri, Francesca; Merbitz-Zahradnik, Torsten; König, Rainer; Kratz, Christian P; Pantaleoni, Francesca; Dentici, Maria L; Joshi, Victoria A; Kucherlapati, Raju S; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A; Gelb, Bruce D; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin.
In: NAT GENET, Vol. 42, No. 1, 1, 2010, p. 27-29.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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
Y1 - 2010
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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 42
SP - 27
EP - 29
JO - NAT GENET
JF - NAT GENET
SN - 1061-4036
IS - 1
M1 - 1
ER -