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...
When examining the decrease in ultradistal forearm BMD by age in both LoF carriers and non-carriers, we can see that the loss of BMD in both subgroups is the same (Fig.2) suggesting thatMEPEp.Lys70IlefsTer26 mutation affects the BMD peak value, rather than the lifetime bone mass loss ...
Both patients have loss-of-function variants, helping to further characterize how these types of variants affect the phenotypic spectrum associated with TRIO. We also present the third reported case of autosomal dominant inheritance of a damaging variant in TRIO....
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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: ...
Loss of function mutation in the HINT1 gene results in Neuromyotonia and Hereditary NeuropathyIntroduction: Histidine Triad Nucleotide binding protein 1 (HINT1) also known as Protein kinase C inhibitor 1 (PRKCNH-1); Protein kinase C ... L Shingavi,S Vengalil,K Polavarapu,... - 《Clinical...
Table 1. Bi-allelic Variants of CFAP58 Identified in MMAF-Affected Subjects SubjectsCFAP58 VariantsAffected AlleleAllele Frequency in Population cDNA MutationProtein AlterationMutation Type1KGPgnomAD A050 IV-1 c.2092C>T p.Arg698∗ stop-gain homozygous 0 0.000065 A064 II-1 c.1429del p.lle477...
TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart defects (CTDs) patients. The aim of the study was to screen the mutation of TBX1...
hyperpolarized potentials, no time-dependent inactivation and an inwardly rectifying current-voltage relationship (Fig.3). In contrast, no current could be elicited in HEK293 cells expressing ClC-2 p.V347fs, suggesting that the frame shift mutation causes a complete loss-of-function of the ClC-...