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221 results
  1. ... David FS, Barford D, Neel BG. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem. 2006; 281 :6785–92. [ ...
  2. ... the BOLERO-2 trial. Alpelisib plus endocrine therapy Activating mutations in PIK3CA are identified in approximately 40% of hormone receptor–positive and HER2-negative breast cancers. Alpelisib is an alpha-specific PI3K ...
  3. ... prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood 124 (10): 1655-8, 2014. [ PubMed : 24982505 ] Durham BH, Lopez Rodrigo E, Picarsic J, et al.: Activating mutations in CSF1R and additional receptor tyrosine kinases in ...
  4. ... prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood 124 (10): 1655-8, 2014. [ PubMed : 24982505 ] Durham BH, Lopez Rodrigo E, Picarsic J, et al.: Activating mutations in CSF1R and additional receptor tyrosine kinases in ...
  5. ... IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE ... Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn ...
  6. ... IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE ... Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn ...
  7. ... hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. Blood. 2015 Jan 22;125(4): ... S, Stojkovic O, Metin A, Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause ...
  8. ... EW, Siegel RM, Marini JC, Bhattacharyya T. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. 2018 Apr ...
  9. ... J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in ... PubMed Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth ...
  10. ... E, Gejman PV, Martin GA, McCormick F. Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. Nat Genet. ...
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