... Yamamoto GL, Kozakewich HP, Warman ML. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum ... overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012; 44 :928–33. [ ...

... glioma (10 of 167 cases).[ 30 ] Other mutations Activating mutations in FGFR1 , PTPN11 , and in NTRK2 fusion genes ... in all analyzed tumors.[ 84 ] In addition, PIK3CA activating mutations were concurrently observed in 19 of 30 cases ( ...

... was advanced by a 2010 report of an activating mutation of the BRAF oncogene (V600E) that was detected ... the same T-cell receptor gene rearrangements and activating mutations of the NOTCH1 gene.[ 18 ] An association between ...

... 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 ...

... 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 ...

... ACVR1 gene: Approximately 20% of DIPG cases have activating mutations in the ACVR1 gene, with most occurring concurrently ... KR, Mackay A, Truffaux N, et al.: Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. Nat Genet 46 ( ...

... for pediatric Burkitt lymphoma remains to be elucidated. Activating mutations in the transcription factor TCF3 and inactivating mutations ... 78 ] The interleukin-4 receptor gene ( IL4R ) shows activating mutations in approximately 20% of primary mediastinal B-cell ...

... phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes. 2009; 58 :1419–27. [ PMC free article : ...