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2005 2
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2013 3
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Page 1
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.
Neuronal protein tyrosine phosphatase 1B deficiency results in inhibition of hypothalamic AMPK and isoform-specific activation of AMPK in peripheral tissues.
Xue B, Pulinilkunnil T, Murano I, Bence KK, He H, Minokoshi Y, Asakura K, Lee A, Haj F, Furukawa N, Catalano KJ, Delibegovic M, Balschi JA, Cinti S, Neel BG, Kahn BB. Xue B, et al. Mol Cell Biol. 2009 Aug;29(16):4563-73. doi: 10.1128/MCB.01914-08. Epub 2009 Jun 15. Mol Cell Biol. 2009. PMID: 19528236 Free PMC article.
SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Swanson KD, Winter JM, Reis M, Bentires-Alj M, Greulich H, Grewal R, Hruban RH, Yeo CJ, Yassin Y, Iartchouk O, Montgomery K, Whitman SP, Caligiuri MA, Loh ML, Gilliland DG, Look AT, Kucherlapati R, Kern SE, Meyerson M, Neel BG. Swanson KD, et al. Genes Chromosomes Cancer. 2008 Mar;47(3):253-9. doi: 10.1002/gcc.20527. Genes Chromosomes Cancer. 2008. PMID: 18064648
15 results