loss-of-function-mutations网络突变;失去功能突变;基因失活 网络释义 1. 突变 失去功能的突变(Loss-of-function mutations):发生的突变会造成基因完全地失去活性,原因可分成两类。一类是由於基因被删 …zhidao.baidu.com|基于81个网页 2. 失去功能突变 ...FH(fumarate hydratase)基因”失去功能突变(loss-of-functi...
求翻译:loss-of-function mutations是什么意思?待解决 悬赏分:1 - 离问题结束还有 loss-of-function mutations问题补充:匿名 2013-05-23 12:21:38 null 匿名 2013-05-23 12:23:18 丢失的功能突变。 匿名 2013-05-23 12:24:58 损失作用变化 匿名 2013-05-23 12:26:38 损失函数的突变 匿名...
In 'loss of function' mutations, the mutation results in a protein change that abolishes the function of the translation product. Huntington's DiseaseMouse GenomicsRepeat Expansion DiseasesSpringer Berlin HeidelbergEncyclopedic Reference of Genomics & Proteomics in Molecular Medicine...
gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF-β signaling provides a framework for understanding their pathogenesis. These findings implicate perturbations of the TGF-β signaling pathway in the causation of a major sub...
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
(Suppl. Fig.2a, b). This hexameric structure is a prerequisite for proper UGDH enzymatic function15. The 23 germline mutations presented in this study are distributed throughout theUGDHgene and its encoded protein (Fig.2a). One of the variants in Family 12 mutates the first nucleotide of ...
Loss-of-function and gain-of-function mutations_生物学_自然科学_专业资料 暂无评价|0人阅读|0次下载|举报文档 Loss-of-function and gain-of-function mutations_生物学_自然科学_专业资料。今日推荐 78份文档 不小心又胖了 胖女人必看 健康减肥10种吃不胖的食物 吃哪些食物不发胖 在家全套瑜伽练习教程四季...
These observations lead us to favor a model where recurrent loss-of-function mutations in primate OAS1 reflect ongoing balancing of deleterious and antiviral effects of 2–5A synthesis. An alternative explanation for recurrent loss-of-function mutations in OAS1 is neutral evolution, where loss of ...
The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin–melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations2. We previously showed that, ...
Original Research Article Official journal of the American College of Medical Genetics and Genomics Open Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections Josephina A.N. Meester, MSc1, Geert Vandeweyer, ...