We identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. Impaired transcriptional activity but not dominant negative effect of mutant LMX1B were revealed using a transcriptional reporter assay, indicating that the mutation caused nail patella syndrome ...
注册 论文 > 自然科学论文 > Frameshift indels introduced by genome editing can lead to in-frame exon skipping 下载文档 收藏 打印 转格式 17阅读文档大小:2.35M13页xiaoyunerbohe上传于2020-02-23格式:PDF A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP famil...
However, deaf relatives wild type for KCNQ4 did not share a DFNA2 disease haplotype, ruling out the likelihood that the putative mutation was in a non-coding region (or involved an indel not readily detected by Sanger sequencing). The fact that 10 of the 23 relatives of this extended ...
accurate and rapid quantification of LOF correction efficiency, we first developed a complementary reporter system, which can be used for the rapid and sen- sitive quantification of recoding efficiency to restore loss-of-function (LOF) mutations (nonsense mutation and frameshift indel mutations) in ...
Across the genome of this ant mutualist, rates of indel mutation within homopolymeric tracts far exceed the synonymous mutation rate, indicating that long-term conservation of frameshifts within these tracts is inconsistent with neutrality. In addition, the homopolymeric tracts themselves are more ...
We used this dataset to evaluate the performance of nine pathogenicity predictor tools: CADD, CAPICE, FATHMM-indel, MutPred-Indel, MutationTaster2021, PROVEAN, SIFT-indel, VEST-indel and VVP.#Our dataset consisted of 2224 benign/likely benign and 1740 pathogenic/likely pathogenic variants from ...
Next-generation sequencing of colorectal cancers in chinese:identification of a recurrent frame-shift and gain-of-function Indel mutation in the TFDP1 gene. Chen C,Liu J,Zhou F,et al. OMICS A Journal of Integrative Biology . 2014Chen C, Liu J, Zhou F, Sun J, Li L, Jin C, et al....
To enable the accurate and rapid quantification of LOF correction efficiency, we first developed a complementary reporter system, which can be used for the rapid and sensitive quantification of recoding efficiency to restore loss-of-function (LOF) mutations (nonsense mutation and frameshift indel mutati...