儿科
词汇介绍
拓展阅读
解析
osteoclastoma /,ɒstɪəʊklæs'təʊmə/
释 义 [医]骨巨细胞瘤
例 句 A case of osteoclastoma of right fibula head and left cuneiform bone. 右腓骨头左足楔骨骨巨细胞瘤1例
概述
Next-generation Fc receptor-targeting biologics for autoimmune diseases复制标题
新一代Fc受体靶向生物制剂治疗自身免疫性疾病
发表时间:2019-10-01
影响因子:7.7
作者: Zuercher Adrian W
期刊:Autoimmun Rev
Giant cell lesions of the jaw (GCLJ) are debilitating tumors of unknown origin with limited available therapies. Here, we analyze 58 sporadic samples using next generation or targeted sequencing and report somatic, heterozygous, gain-of-function mutations in KRAS, FGFR1, and p.M713V/I-TRPV4 in 72% (42/58) of GCLJ. TRPV4 p.M713V/I mutations are exclusive to central GCLJ and occur at a critical position adjacent to the cation permeable pore of the channel. Expression of TRPV4 mutants in HEK293 cells leads to increased cell death, as well as increased constitutive and stimulated channel activity, both of which can be prevented using TRPV4 antagonists.
译文