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
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
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...
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(...
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 refers to the decline in abilities, health, and well-being that occurs towards the end of life. It involves a process of adjustment, comprehension, adaptation, and reintegration as individuals face irreversible losses signaling the approach of death. ...
Discoveries of adaptive gene knockouts and widespread losses of complete genes have in recent years led to a major rethink of the early view that loss-of-function alleles are almost always deleterious. Today, surveys of population genomic diversity are r
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. et al. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet. 2010; 86 ... X Liu,D Han,J Li,...
Abbreviations: CDS coding sequence, uAUG upstream AUG, uORF upstream open reading frame, oORF overlapping open reading frame, MAPS mutability adjusted proportion of singletons, pLoF predicted loss-of-function, DDG2P Developmental Disease Gene to Phenotype Full size image We compared the mutability ...
Recent studies have identified 2 loss-of-function variants, R501X and 2282de14, in the filaggrin gene as pre-disposing factors in the development of eczema. tn this study, representing the first analysis of the variants in a Swedish population, we analysed transmission in 406 multiplex eczema ...