Sentence examples for be a genetic modifier from inspiring English sources

This is likely to be the case as the K897T KCNhashas been reported to be a genetic modifier of latent LQTS in a carrier of K897T KCNH2 and a another low-penetrant KCNH2 mutation[42].

Nevertheless, the intracellular retention of a significant proportion of p.Val245Met suggests the intriguing possibility that it might be a genetic modifier of phenotypic severity.

To our knowledge this is the first example indicating that a CNV event can be a genetic modifier of AO in HD.

TMEM106B genotype (ie homozygosity for the minor allele) has been claimed to be a genetic modifier of FTLD in both GRN and C9ORF72 mutation carriers [ 25, 26, 28, 29], and to protect C9ORF72 carriers from FTD [ 25, 28, 29].

No mutations have been found in the ABCD2 gene of X-ALD patients and genetic association studies indicated that ABCD2 is unlikely to be a genetic modifier locus (41).

We screened the mutant Pde6b rd1 (c.1041C > A) allele (22), two mutant alleles in the Gnat2 gene, Gnat2 (c.518A>G) (23) and Gnat2 c.598G>A.598G>A) (24), and the polymorphism in the Rpe65 gene, RPE65 Met450Leu [ Rpe65 (c.1348C>A)], that has been previously shown to be a genetic modifier for retinal degeneration (25).

Mollersen, L. et al. Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice.

The GRIK2 gene is a genetic modifier in HD, meaning that its expression in different people can have an effect on age of onset.

Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice.

To specifically test whether Kv beta1 is a genetic modifier of the Kv beta2-null phenotype, we generated Kv beta1.1-deficient mice by gene targeting and bred them to Kv beta2-null mice.

The latter result is particularly noteworthy, as eIF4E is a genetic modifier of the Rap-response and elevated eIF4E levels lead to resistance to Rap+Dxr combination treatment.