Sentence examples for mutation causes gain from inspiring English sources

We demonstrated that the K346T mutation causes gain of function of the Kir2.1 channels by altering their trafficking and stabilization and suggest that the novel KCNJ2 variant has a combined effect on cardiac rhythm and neuropsychiatric phenotype.

Some p53 mutations cause gain of function that is independent of any complex formation with wild-type p53 and is associated with selective proliferative advantage (Gurova et al, 2003; Scian et al, 2004).

BRIL and PEDF are related, and it appears that mutations causing gain-of-function of BRIL cause OI type V and that those causing loss-of-function of BRIL look phenotypically like OI type VI.

If the variant is heterozygous, the percentage of reads supporting the call must be > 30% and < 80%); Impact criterion: the mutation causes a gain or loss of a stop codon, a gain or loss of a splicing signal, or a frame-shift in the Open Reading Frame.

These results are consistent with each other but not with the model that the cub mutation causes a simple gain of function of iRhom2.

The R132H mutation causes IDH-1 to gain the ability to convert alpha-ketoglutarate to 2-hydroxyglutarate (2HG), an onco-metabolite.

This gain-of-function mutation causes increased current flow through the channel and shortens the action potential duration and QT interval.

Conversely, a gain-of-function Nav1.7 mutation causes congenital paroxysmal extreme pain disorders; for example, erythromelalgia (Fertleman et al., 2006).

From our results no conclusion can be drawn if the single mutations in both mutants cause gain or loss of function of LRS1 as a regulatory element in high light adaptation.

Mutations in protein coding genes such as single nucleotide variants causing amino acid changes (nonsynonymous SNVs or nsSNVs), short insertions or deletions causing a shift in the reading frame (frame shift mutations) and mutations causing the gain or loss of a stop codon (stop-gain or stop-loss mutations) are generally expected to be the most likely candidates for driving disease development.

Nonsense mutation is known to cause gain-of-function allele as well as loss-of-function allele depend on the mutation position in human disease study (reviewed in [ 58]).