Article
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
Proceedings of the National Academy of Sciences of the United States of America - 13 Mar 2012
De Rocca Serra-Nédélec Audrey, Edouard Thomas, Tréguer Karine, Tajan Mylène, Araki Toshiyuki, Dance Marie, Mus Marianne, Montagner Alexandra, Tauber Maïté, Salles Jean-Pierre, Valet Philippe, Neel Benjamin G, Raynal Patrick, Yart Armelle
Abstract excerpt
Noonan syndrome (NS), a genetic disease caused in half of cases by activating mutations of the tyrosine phosphatase SHP2 (PTPN11), is characterized by congenital cardiopathies, facial dysmorphic features, and short stature. How mutated SHP2 induces growth retardation remains poorly understood. We...
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