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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: neel bg. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
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. Among authors: neel bg. Genes Chromosomes Cancer. 2008 Mar;47(3):253-9. doi: 10.1002/gcc.20527. Genes Chromosomes Cancer. 2008. PMID: 18064648
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: neel bg. 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.
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Chen PC, et al. Among authors: neel bg. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21. Proc Natl Acad Sci U S A. 2014. PMID: 25049390 Free PMC article.
302 results