Sentence examples for variants impair the from inspiring English sources

Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases.

If we wish to consider multiple variants jointly then we will be testing the hypothesis that some subset of these variants impair the functioning of the gene and hence can act recessively and increase risk of disease when one occurs as a homozygote or when two occur in trans to form a compound heterozygote.

The finding that most of the human variants impair the ability of SH2B1α and SH2B1β to enhance motility raises the possibility that regulation of the actin cytoskeleton and/or motility of cells is an important and vital component of SH2B1 function that plays a critical role in the ability of SH2B1 to regulate energy balance and the response to insulin.

Overexpression of the R1747Q variant impairs the response of Shh stimulation but not signalling downstream of Smoothened.

This experiment demonstrated that the HSPB1∆C-term variant impaired the ability of cells to cope with unfolded protein stress.

However, like the previously described human variants in the 1 631 region, the T546A variant impairs the ability of SH2B1β to enhance NGF-induced neurite outgrowth.

The N-terminal region of Spt5 (NSpt5: lacking the repeats phosphorylated by P-TEFb) acts in a dominant manner to disrupt development when expressed in zebrafish embryos 37. This variant impairs the repressive function of Spt5 in vitro and leads to de-repression of hsp70 in the absence of heat shock in vivo 37.

In our setting, the rmlD gene inversion in the 19A variant may impair the functionality of the whole rml gene cluster necessary for rhamnose biosynthesis, a component of the polysaccharide capsule.

This inability to correctly identify functionally significant genetic variants impairs our understanding of the disease pathogenesis and is an impediment to personalized management of AMD.

Overall, IRS-1 and/or 2 variants seem to impair the ability of insulin to activate the IRS/PI3-kinase/Akt/GSK-3 signaling pathway leading to defects in glucose transport, glucose transporters translocation and glycogen synthesis.

To test whether the reduced helicase activity of Twinkle adPEO variants impaired mtDNA replication in a similar way, we analyzed the mtDNA replication pattern of cultured cells expressing wild-type and mutant Twinkle variants using two-dimensional DNA gel electrophoresis (Fig.  6).