Sentence examples for mutations involves from inspiring English sources
Previous studies have shown that the mechanism leading to MED caused by matrilin-3 mutations involves the induction of a UPR and dysregulated apoptosis (Leighton et al., 2007; Nundlall et al., 2010).
The molecular basis of recessive inactivating ABCC8 and KCNJ11 mutations involves multiple defects in channel biogenesis and turnover, in channel trafficking from the endoplasmic reticulum and Golgi apparatus to the plasma membrane and alterations in the sensitivity of the channel to both magnesium ATP and ADP (14, 15, 16).
Proximity measurements taken during these trajectories suggest that DIIIS2 countercharges may be an important substrate of voltage sensor translocation during recovery, and that the effect of hypokalaemic periodic paralysis mutations involves a decreased interaction of those S2 countercharges with R3 as the S4 segment traverses the gating pore towards the resting state.
Although the effects of mexiletine have been investigated previously in another (V872G) NaV1.7 mutation in vitro, where it was shown to induce use-dependent current blocking effects (Choi et al., 2009), to our knowledge, this is the first evidence that the mechanism of action of mexiletine on erythromelalgia channel mutations involves an effect on their gating properties.
But Counsyl has customized the technology to test the mutations involved in rare inherited diseases.
Two of the mutations involved are also known to cause a rare disease called mucolipidosis.
The new research, by looking at the entire genome — all the DNA — and aiming to find all the mutations involved in a particular cancer, differs markedly from earlier studies, which have searched fewer genes for individual mutations.
Dr. Vogelstein said he believed the technique could help many tests for flawed genes that promote diseases, although the amount of improvement would depend on the nature of the genes and mutations involved.
One reason is the sheer number of mutations involved.
The threshold model argues that a pathway may be affected by mutations involving different sets of genes in different individuals.
Comparably, the mutations involved in N-glycosylation always give rise to invisible defects in plant phenotype under normal growth condition.
