Article
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.
The Journal of clinical investigation - 1 Aug 2016
Lauriol Jessica, Cabrera Janel R, Roy Ashbeel, Keith Kimberly, Hough Sara M, Damilano Federico, Wang Bonnie, Segarra Gabriel C, Flessa Meaghan E, Miller Lauren E, Das Saumya, Bronson Roderick, Lee Kyu-Ho, Kontaridis Maria I
Abstract excerpt
Hypertrophic cardiomyopathy is a common cause of mortality in congenital heart disease (CHD). Many gene abnormalities are associated with cardiac hypertrophy, but their function in cardiac development is not well understood. Loss-of-function mutations in PTPN11, which encodes the protein tyrosine phosphatase (PTP) SHP2, are implicated in CHD and cause Noonan syndrome with multiple lentigines (NSML), a condition...
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