LOSS-OF-FUNCTION,BRCA1基因突变,LOSS-OF-FUNCTION基因变异,,BRCA1功能缺失突变已被证明会增加携带等位基因的人患乳腺癌和卵巢癌的风险。用奥拉帕尼等parp抑制剂治疗BRCA突变患者已导致显著反应。BRCA1 loss of function mutations have been shown to increase risk
The disclosure provides a loss-of-function gene of eIFiso4E-S. The loss-of-function gene is resistant to tobacco vein banding mosaic virus (TVBMV) and represented by the sequence of SEQ ID NO: 1.Yong LIUChangjun HUANG
功能(gainoffunction)显性负性效应(dominantnegativeeffect)获得新特性(gainof novelproperty)异时或异地基因表达(heterochronicorectopicgeneexpressio n)绝大多数单基因病是由于基因所编码的蛋白质的质和(或)量的改变所引起。功能失去(lossoffunction)丧失功能(lo ssoffunction,LOF)是最常见的致病机制,绝大多数单基因遗...
negativeeffect）property）geneexpression）绝大多数单基因病是由于基因所编码的蛋白质的质和（或）量的改变所引起。功能失去（lossoffunction）➢丧失功能(lossoffunction,LOF)是最常见的致病机制，绝大多数单基因遗传病都是因为基因LOF造成的。➢LOF可以是变异造成蛋白结构破坏，也可以是变异造成蛋白剂量减少，即二者...
Loss of gene function methodology 来自 NCBI 喜欢 0 阅读量: 24 作者:MG Sharp,JJ Mullins 摘要: Sharp MG, Mullins JJ.关键词: GENE TARGETING HOMOLOGOUS RECOMBINATION EMBRYONIC STEM CELLS TRANSGENIC ANTISENSE RNA RIBOZYME DOI: 10.1097/00004872-199304000-00002 被引量: 8 ...
pLI (probability of being Loss-of-function Intoleran): pLI is a dichotomous score in which pLI > 0.9 suggests that a gene is associated with severe phenotypes in the haploinsufficient state, and pLI < 0.1 suggests that a gene is not haploinsufficient; ...
Loss-of function mutation:失去功能的突变。突变事件破坏了基因的关键性的功能区,干扰了野生型对某种表型的活性功能。 Gain-of-function mutation:获得功能的突变。有时突变事件引起遗传变异有可能使之获得某种新功能。 Null mutation:完全丧失基因功能的突变。 Leaky mutation:渗漏突变,突变基因失活不完全。 Suppressor...
单基因致病机理-功能缺失Loss of Function,LOF单基因病的发病机理12345失去功能(loss of function)获得功能(gain of function)显性负性效应(dominant negative effect)获得新特性(gain of novel property)异时或异地基因表达(heterochronic or ectopic gene expression)绝大多数单基因病是由于基因所编码的蛋白质的质和(...
The use of models to study is proving particularly powerful in dissecting the mechanisms underlying disease initiation and progression. However, the majority of these models have been somewhat limited in studying the very early effects of loss of gene function, as relies upon either constitutive loss...
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (2010) Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet 86: 65-71... X Liu,D Han,J Li,....