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  1. ... for pediatric Burkitt lymphoma remains to be elucidated. Activating mutations in the transcription factor TCF3 and inactivating mutations in its negative regulator ID3 are observed in approximately 70% of ...
  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. ... mutations in MAP2K1 (which codes for MEK) were activating, as indicated by their induction of ERK ... cases.[ 26 ] Studies support the universal activation of ...
  4. ... CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RECOMBINATION-ACTIVATING GENE ... immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn ...
  5. ... CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RECOMBINATION-ACTIVATING GENE ... immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn ...
  6. ... Vogelstein B, Meyerson M, Sellers WR, Neel BG. Activating mutations of the Noonan syndrome-associated SHP2/PTPN11 gene ... Cavé H, Gelb BD, Neel BG, Tartaglia M. Activating mutations affecting the Dbl homology domain of SOS2 cause ...
  7. ... the following: Evidence of WNT pathway activation by activating mutations in the CTNNB1 gene is common.[ 69 - 71 ] ... 30%) than in nonanaplastic cases (11.2%).[ 117 ] Activating mutations at codon 44 (p.P44L) were identified in ...
  8. ... Greulich H, Morris SW, Meyerson M, Look AT. Activating mutations in ALK provide a therapeutic target in neuroblastoma. ... S, Amiel J, Delattre O. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature. ...
  9. ... phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes. 2009; 58 :1419–27. [ PMC free article : ...
  10. ... unless there is hemorrhage into the tumor. Somatic activating mutations of GNAQ and GNA11 have been found to ... UM, Couto JA, Hann S, et al.: Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital ...
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