网络突变;功能丧失性突变;功能丢失的突变 网络释义
In this project, CRISPR/Cas9- and TALEN-mediated genome-editing techniques were applied to induced pluripotent stem cell (iPSC)-based-disease model to explore the mechanism of epilepsy caused byloss-of-function mutation. By fluorescently labeling GABAergic subtype in iPSC-derived neurons using CRISPR...
substitution to protein function. However, relative abundance of the variant in the population, (global MAF of 0.0023, or 0.23% of allPDX1alleles genotyped in gnomAD13) is atypical of a mutation responsible for monogenic disease. The lack of strict allele-disease segregation (or penetrance) withi...
摘要: Congenital heart defect (CHD) is the most common form of birth deformity and is responsible for substantial morbidity and mortality in humans. Increasing evidence has convincingly demonstrated that...关键词: Congenital heart defect ISL1 Molecular genetics Patent ductus arteriosus Reporter gene ...
Overall, we have identified a loss-of-function mutation in Ube2l6 that contributes to the chromosome 2 obesity quantitative trait locus. 展开 关键词: ADIPOSE TRIGLYCERIDE LIPASE UBIQUITIN-CONJUGATING ENZYMES DIET-INDUCED OBESITY GENE-EXPRESSION INSULIN-RESISTANCE PPAR-GAMMA IN-VIVO TISSUE MICE DOI: ...
A nonsense loss-of-function mutation in PCSK1contributes to dominantly inherited human obesity. Int J Obes. 2015;39(2):295-302.Philippe, J., Stijnen, P., Meyre, D., De Graeve, F., Thuillier, D., Delplanque, J., et al... J Philippe,P Stijnen,D Meyre,... - 《International Jour...
The mutation defined was an intragenic homozygous 2016-bp deletion encompassing intron 6 to intron 7 of the PTPN14 resulting in the loss of exon 7, frameshift (p.Ser194Argfs*19), and premature truncation (Au et al., 2010). All nine patients in the kindred displayed choanal atresia and ...
Collectively, these results indicate that the British BRI2 mutation underlies abnormal memory due to loss of BRI2 function and independently of histopathological alterations typically evident in advanced neurodegenerative disease. 展开 关键词: Me13B Drosophila synaptic mRNPs CamKII translational control ...
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Of the remaining 70% of non-hotspot mutants, many are partial loss-of-function (partial-LOF) mutants with residual transcriptional activity. The therapeutic consequences of a partial-LOF have remained largely elusive. Using a p53 mutation engineered to reduce DNA binding, we demonstrate that ...