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Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature

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 re...

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Detalhes bibliográficos
Main Authors: Serra-Nédélec, Audrey De Rocca, 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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306697/
https://ncbi.nlm.nih.gov/pubmed/22371576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1119803109
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