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• W2108100369 abstract "Martin Zenker, Marco Tartaglia, Reza Ahmadian and colleagues report the identification of a restricted spectrum of NRAS mutations in individuals with Noonan syndrome. Functional testing revealed that the mutations confer enhanced stimulus-dependent MAPK activation. 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." @default.
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• W2108100369 date "2009-12-06" @default.
• W2108100369 modified "2023-10-18" @default.
• W2108100369 title "A restricted spectrum of NRAS mutations causes Noonan syndrome" @default.
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• W2108100369 doi "https://doi.org/10.1038/ng.497" @default.
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