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 ...
DefinitionDefinitionIs any mutation of a gene that causes decreased or abolished function and/or activity of its encoded protein or of a protein that is directly or indirectly regulated by the mutatedGoldberg YP,MacFarlane J,MacDonald ML,Thompson J,Dube MP,Mattice M,Fraser R,Young C,Hossain S...
Gene mutation:基因突变。指染色体上某一基因位点内部发生了化学物质的变化,与原来的基因形成对应关系,即等位关系。 Point mutation:点突变。基因突变是染色体上一个座位内遗传物质的变化。 Somatic mutation:体细胞突变。指在保持分裂的身体组织的一个细胞发生了突变。 Germinal mutation:生殖细胞突变。突变发生在生殖细胞...
a mutation affecting an enzyme can result in alteration of other cell components. A single gene mutation may have many effects if the enzyme it controls is involved in several metabolic processes. Occasionally a mutation can be offset by either another mutation on the same gene or on another ge...
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
As previously reported that silencing Comt expression caused a drastic decrease in capsaicinoid accumulation, it was presumed that a Comt loss-of-function mutation would cause loss of pungency in Capsicum. This hypothesis was tested by cloning Comt1 and Comt2 from the placenta tissue of the ...
Glossary:Loss-of-function Mutation. A type of mutation in which the altered gene product lacks the molecular function of the wild-type gene. Synonyms: Amorphic
1998). This point mutation in the N-terminal MAPK phosphorylation site leads to increased receptor function. These observations in the germline together with our somatic data suggest that PPARγ is a key regulator of a range of cellular processes and, therefore, is an important target for ...
This is the first report of a loss-of-function mutation in ABCC8 resulting in gain-of-channel function and neonatal diabetes. An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression The syndrome is caused by a loss-of-function mutation in the WFS1 gene which ...