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 ...
Mutation Any alteration capable of being replicated in the genetic material of an organism. When the alteration is in the nucleotide sequence of a single gene, it is referred to as gene mutation; when it involves the structures or number of the chromosomes, it is referred to as chromosome mut...
Int.J.Med.Sci.2017,Vol.14 http://.medsci 1143 IInntteerrnnaattiioonnaallJJoouurrnnaallooffMMeeddiiccaallSScciieenncceess 2017;14(11):1143-1153.doi:10.7150/ijms.21353 ResearchPaper MEF2Closs-of-functionmutationcontributesto congenitalheartdefects Xiao-HuiQiao 1* ,FeiWang 2* ,Xian-LingZhang...
Loss-of-Function Mutation in Myostatin Reduces Tumor Necrosis Factor Production and Protects Liver Against Obesity-Induced Insulin Resistance 2009. Loss-of-func- tion mutation in myostatin reduces tumor necrosis factor alpha production and protects liver against obesity-induced insulin resistance. ... JJ...
Loss-of-Function Mutation in a Repressor Module of Human-Specifically Activated Enhancer HACNS1Kenta Sumiyama* and Naruya SaitouDivision of Population Genetics, National Institute of Genetics, Mishima, Japan*Corresponding author: E-mail: ksumiyam@lab.nig.ac.jp.Associate editor: Yoko SattaAbstractThe...
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
Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture This is the first report of a loss-of-function mutation in ABCC8 resulting in gain-of-channel function and neonatal diabetes....
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: ...
our group is identifying mutations of these genes by means of genomic and genetic analyses. In this study, we identified a novel loss-of-function mutation ofPBK, encoding the PDZ binding kinase, that was found to be associated with KSD in an affected Thai family. Glycine (Gly) substituted ...