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Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM. Loh ML, et al. Among authors: schubbert s. Blood. 2004 Mar 15;103(6):2325-31. doi: 10.1182/blood-2003-09-3287. Epub 2003 Nov 26. Blood. 2004. PMID: 14644997 Free article.
Germline KRAS mutations cause Noonan syndrome.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Schubbert S, et al. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 Feb 12. Nat Genet. 2006. PMID: 16474405
Biochemical and functional characterization of germ line KRAS mutations.
Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, Zenker M, Niemeyer CM, Molven A, Shannon K. Schubbert S, et al. Mol Cell Biol. 2007 Nov;27(22):7765-70. doi: 10.1128/MCB.00965-07. Epub 2007 Sep 17. Mol Cell Biol. 2007. PMID: 17875937 Free PMC article.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Rauen KA, et al. Among authors: schubbert s. Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183. Am J Med Genet A. 2010. PMID: 20014119 Free PMC article.
17 results