dominant negative mutation,醫學術語,顯性負突變。
基本介紹
- 中文名:顯性負突變
- 外文名:dominant negative mutation
dominant negative mutation,醫學術語,顯性負突變。
(7) Wang P, Yang Q, Wu X, Yang Y, Shi L, Wang C, Wu G, Xia Y, Yang B, Zhang R, Xu C, Cheng X, Li S, Zhao Y, Fu F, Liao Y, Fang F, Chen Q, Tu X, Wang QK.Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation ...
6. Zhang H, Chen H, Luo H, An J, Sun L, Mei L, He C, Jiang L, Jiang W, Xia K,Li JD*, Feng Y*. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II,Hum Genet.2012; 131(3...
Lu YH,Arnaud D, Belcram H, Falentin C, Rouault P, Piel N, Lucas MO, Just J, Renard M, Delourme R, Chalhoub B. (2012) A dominant point mutation in a RINGv E3 ubiquitin ligase homoeologous gene leads to cleistogamy inBrassica napus.ThePlant Cell. 24(12):4875-4891.Yun-hai LU, ...
13.Zhang C, Wang M, Xiao Y, Zhang F, Zhou Y, Li J, Zheng Q, Bai X, Wang H. A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss. Neural Plast. 2016;2016:1512831. (共同通訊作者,JCR分區:3) 14.Wang M, Zhang F, Xu L, Xiao Y, Li J, Fan Z, ...
4. Hõrak, H#., Sierla, M#., Tõldsepp, K#., Wang, C#., Nuhkat, M., Wang, Y.H., Valk, E., Pechter, P., Merilo, E., Overmyer, K., Loog, M., Brosché, M., Schroeder, J.I., Kangasjärvi, J., and Kollist, H (2016). A dominant mutation in HT1 uncovers ...
5.Lee SC*, Sim N, Clement M, Yadav S, Pervaiz S. Dominant negative Rac1N17 attenuates human melanoma M14 cell apoptosis sensitivity by upregulation of heat shock protein 27: a functional proteomic study. Proteomics. 7:4112-4122, 2007 6.Lee SC*, Pervaiz S. Apoptosis in the pathogenesis ...
常染色體顯性遺傳夜間額葉癲癇(Autosomal dominant nocturnal frontal lobe epilepsy, ANDFLE),又稱特發性局灶性癲癇綜合徵,是一種與睡眠相關的單基因遺傳性癲癇綜合徵。臨床表現為睡眠中成串運動性發作,包括手足痙攣、軀體強直、肌張力不全樣運動及發聲症狀(如呼喊、尖叫),多起病於兒童期,常被誤診為睡
Xiangyu Ma, Liping Guan, Wei Wu,...Ye Yin, ...(2015) Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa. Scientific Report. 2015 Mar 18;5:9236. doi: 10.1038/srep09236.Zhang H1, Gao Y, Jiang F,...Yin Y,...(2015)Non-invasive ...
