FGFR1 激活点突变体的信号传导
中文名称
通路描述
与 FGFR2 和 FGFR3 不同，FGFR1 似乎不是激活点突变的常见靶点 (综述 Wesche, 2011; Turner and Grose, 2010)。在 Pfeiffer 综合征中已鉴定出 P252 残基的胚系点突变 (综述 Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007)，而在黑色素瘤和肺癌中已鉴定出相同残基的体细胞突变 (Ruhe, 2007; Davies, 2005)。在胶质母细胞瘤中已鉴定出两个激酶结构域突变 (Rand, 2005; Network TCGA, 2008)，这两个突变位点也在一个 FGFR 家族成员中发生的常染色体疾病中 (Muenke, 1994; Bellus, 1995a; Bellus, 2000; Tavormina, 1995a; Tavormina, 1999)。
英文描述
Signaling by activated point mutants of FGFR1 Unlike FGFR2 and FGFR3, FGFR1 appears not to be a frequent target of activating point mutations (reviewed in Wesche, 2011; Turner and Grose, 2010). Germline point mutations at residue P252 have been identified in Pfeiffer syndrome (reviewed in Webster and Donoghue, 1997; Burke, 1998; Cunningham, 2007) while mutation of the same residue arising somatically has been identified in melanoma and lung cancer (Ruhe, 2007; Davies, 2005). Two kinase domain mutations have been characterized in glioblastoma (Rand, 2005; Network TCGA, 2008), both at positions that are also mutated in an autosomal disorder in one of the FGFR family members (Muenke, 1994; Bellus, 1995a; Bellus, 2000; Tavormina, 1995a; Tavormina, 1999).
所含基因
7 个基因