12.Santos L, Mention K, Cavusoglu-Doran K, Sanz DJ, Bacalhau M, Lopes-Pacheco M, Harrison PT, Farinha CM. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation. J Cyst Fibros. 2022 Jan;21(1):181-187. doi: 10.1016/j.jcf.2021.05.014. Epub 2021 ...
This mutation, among others, leads to a class II mutation of cystic fibrosis. The misfolded CFTR is either not transported to the surface of the membrane or is only transported in residual amounts, preventing the regulation of mucus consistency and causes cystic fibrosis. The mechanism of the ...
存在突变,并且有着 关键词 CFTR基因;先天性双侧输精管缺如;非梗阻性无精子症;男性不育;实时 荧光定量聚合酶链反应;单核苷酸多态性;突变;DNA测序 4 ・ 英文论著摘要・ CFTRmutationdetectionandevaluationofitssignificance‘maleinfertilityofchinainmale111.tylnIeIntroductionInfertilityisdefinedasafailuretoconceiveina...
(PCR)and subsequently studied with Sanger sequencing.Mutations/variationswere identified and compared with the control sequence searched in the NCBI database.ResultsHomozygous 5T mutation at the splicing site ahead of exon 10 of the CFTR gene was identified in bothbrothers in association with 13TG ...
the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefS...
mutation)分别计算; [0145]②对每个肿瘤变异位点的评估基于与其突变等位基因频率(variant allel frequency,VAF)相关的两个方面:Fisher’s精确检验肿瘤某位点VAF是否明显高于匹配正 常样本中的相应位点;肿瘤某位点VAF是否显著高于具有体细胞突变的一般基因群体的特 征VAF(即突变“背景”,详见④); [0146]③将②中结果汇...
F508del CFTR trafficking54,55. We specifically focused on a proline substitution at residue Ser492 (S492P), which is predicted to increase rigidity between the N-terminal and the α-helical subdomains56, and a well-known suppressor mutation I539T57, which increases thermal stability of F508del...
Genetic study of this family supports that homozygous 5T mutation is associated with CBAVD. Individuals with homozygous 5T alleles are 20 times more possible to transmit this deleterious variant to the next generation than general population. ConclusionsThis family we analysed agrees with the previous ...
参考文献[1]RadpourR,GourabiH,DizajAV,eta1.GeneticinvestigationsofCFTRmutationsincongenitalabsenceofvasdeferens,uterus,andvaginaasacauseofinfertility[J].JAndrol,2008,29:506—513.[2]CastellaniC,CuppensH,MacekMJr,eta1.Consensusontheuseandinterpretationofcysticfibrosismutationanalysisinclinicalpractice[J].JC...
Efficient Gene Editing at Major CFTR Mutation LociCystic fibrosis (CF) is a lethal autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Nuclease-mediated precise gene editing (PGE) represents a promising therapy for CF, for which an ...