网络突变;功能丧失性突变;功能丢失的突变 网络释义
Related to loss-of-function mutation:genetic mutation,conditional mutant mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. 2.An alteration or change, as in nature, form, or quality. 3.Genetics ...
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...
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 ...
Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in TNFAIP3 (encoding A20) in six unrelated families with early-onset systemic inflammation. Affected individuals exhibit increased expression of NF-κB–mediated proinfla
2009. Loss-of-function mutation in myostatin reduces tumor necrosis factor alpha production and protects liver against obesity-induced insulin resistance . ... JJ Wilkes,DJ Lloyd,N Gekakis - 《Diabetes》 被引量: 291发表: 2009年 Loss-of-Function Mutation in Myostatin Reduces Tumor Necrosis Factor...
Based on these observations, we concluded that OSH3 from two of the cultivars from the Japonica variety could have lost its original function, or could have acquired a novel function by modifying the action of HD, or both. 展开 关键词: Dimer formation Homeobox gene Rice TALE-homeodomain ...
A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity. IntJ Obes. 2015;39(2):295-302... Meyre,D.,Philippe,... - 《International Journal of Obesity》 被引量: 16发表: 2015年 A nonsense loss-of-function mutation in PCSK1 contributes to dominantly in...
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: ...
Direct sequencing of the 19 coding exons of PTPN14 identified a novel 2 bp insertion mutation Chr1 (GRCh37): g.214588012_214588013insAA; NM_005401.4: c.401_402insTT; p.(Leu135Tyrfs*5) present in the homozygote state in the fourth exon of the gene (Fig. 4, Fig. 5) (blasted in ...