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A suggested role for mitochondria in Noonan syndrome.
Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Hüttemann M. Lee I, et al. Among authors: araki t. Biochim Biophys Acta. 2010 Feb;1802(2):275-83. doi: 10.1016/j.bbadis.2009.10.005. Epub 2009 Oct 14. Biochim Biophys Acta. 2010. PMID: 19835954 Free PMC article.
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Among authors: araki t. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
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. Among authors: araki t. 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.
2,592 results