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2011 | 1 |
2012 | 2 |
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Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
Mol Cell Biol. 2012 Oct;32(19):3872-90. doi: 10.1128/MCB.00751-12. Epub 2012 Jul 23.
Mol Cell Biol. 2012.
PMID: 22826437
Free PMC article.
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.
Wu X, Simpson J, Hong JH, Kim KH, Thavarajah NK, Backx PH, Neel BG, Araki T.
Wu X, et al.
J Clin Invest. 2011 Mar;121(3):1009-25. doi: 10.1172/JCI44929. Epub 2011 Feb 21.
J Clin Invest. 2011.
PMID: 21339642
Free PMC article.
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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.
De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A.
De Rocca Serra-Nédélec A, et al.
Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27.
Proc Natl Acad Sci U S A. 2012.
PMID: 22371576
Free PMC article.
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