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-function mutations)”所引起之第二型乳突样肾细胞癌;此型之遗传模式为 …gene.bhp...
(2001) Loss-of-function mutations in•Bamford RN, Roessler E, Burdine RD, et al. : Loss of function mutations in the ECF-CFC gene CFC1 are associated with human left-right laterality defects . Nat Genet 2000, 26 :356–359.Cacheux, V., Dastot-Le Moal, F., Kaariainen, H., Bon...
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...
A change in the genes or chromosomes of an organism. Mutations occurring in the reproductive cells, such as an egg or sperm, can be passed from one generation to the next. Most mutations have harmful effects, but some can increase an organism's ability to survive. A mutation that benefits...
Zhou, Q., Wang, H., Schwartz, D.et al.Loss-of-function mutations inTNFAIP3leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.Nat Genet48, 67–73 (2016). https://doi.org/10.1038/ng.3459 Download citation
We have found four somatic PPARγ mutations among 55 sporadic colon cancers: one nonsense, one frameshift, and two missense mutations. Each greatly impaired the function of the protein. c.472delA results in deletion of the entire ligand binding domain. Q286P and K319X retain a total or ...
We have identified eight distinct mutations and two whole gene deletions disrupting the X-linked immunoglobulin superfamily member 1 gene (IGSF1) in affected males. IGSF1 encodes a pituitary-enriched plasma membrane glycoprotein; disease-associated mutations block trafficking of IGSF1 from the ...
2020-02-25上传 MEF2C loss-of-function mutation contributes to congenital heart defects(MEF2C功能丧失突变导致先天性心脏病) 文档格式: .pdf 文档大小: 887.25K 文档页数: 11页 顶/踩数: 0/0 收藏人数: 0 评论次数: 0 文档热度: 文档分类:
Functional analysis showed that these classes of mutations all resulted in increased translation of the main HR physiological ORF. Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential ...
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, ...