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...
Lethal mutation:致死突变。突变主要影响生活力,导致个体死亡。 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...
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...
MUTATION LOSS-OF-FUNCTION UNDEREXPRESSION Alu insertion EXPRESSION COPY-NEUTRAL LOSS OF HETEROZYGOSITY M1V M1I C61G C64Y R71G R71K R1495M E1559K D1692N R1443* Q1467* R71M W1815X P968FS BRCA1 基因突变 LOSS-OF-FUNCTION Allele Registry ID:别名: ClinVar ID: BRCA1功能缺失突变已被证明会...
A loss-of-function mutation (Mstn[sup Ln]) in either one or both alleles of the Mstn gene shows how Mstn deficiency protects whole-body insulin sensitivity. RESEARCH DESIGN AND METHODS--Mstn[sup Ln/Ln] mice were weaned onto a high-fat diet (HFD) or standard diet. HFD-fed Mstn[sup Ln...
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is the recent demonstration that a homozygous loss-of-function mutation in the upstream enzyme UGP2 is also responsible for a severe form of developmental epileptic encephalopathy in humans33. UDP-GlcA is not only needed for detoxification via glucuronidation, but is also a key component of glycos...
These findings implicate perturbations of the TGF-β signaling pathway in the causation of a major subclass of human CHDs.关键词: Animals Zebrafish Humans Mice Heart Defects, Congenital Intercellular Signaling Peptides and Proteins DNA Mutational Analysis Protein Structure, Secondary Phenotype Mutation DOI...
mutation (redirected fromLoss of function) Thesaurus Medical Legal Acronyms Encyclopedia Related to Loss of function:genetic mutation,Conditional mutation,Gain of function mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. ...