Article
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
Proceedings of the National Academy of Sciences of the United States of America - 14 Feb 2006
Uhlén Per, Burch Peter M, Zito Christina Ivins, Estrada Manuel, Ehrlich Barbara E, Bennett Anton M
Abstract excerpt
Gain-of-function mutations in SHP-2/PTPN11 cause Noonan syndrome, a human developmental disorder. Noonan syndrome is characterized by proportionate short stature, facial dysmorphia, increased risk of leukemia, and congenital heart defects in approximately 50% of cases. Congenital heart abnormalities are common in Noonan syndrome, but the signaling pathway(s) linking gain-of-function SHP-2 mutants to heart disease...
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