Surprisingly, we also find that function-altering ("damaging") mutations constitute a greater fraction of the non-synonymous variants in this group, which suggests a role for subfunctionalization in coding variation affecting duplicated genes.
In bladder cancer, FGFR3 mutations have been associated with a prolonged survival and tumors carrying these mutations constitute a favorable disease category [20].
Therefore, the identification of causative mutations constitutes a major issue for CPVT families.
Molecular genetic analysis of heritable mouse mutations constitutes a significant, experimentally malleable strategy for relating genomic DNA structure to genic expression and function in mammals.
found that FLG mutations constituted a risk factor for HE in individuals with AD, but not in individuals without AD 33.
As accumulation of genomic mutations constitutes a hallmark of cancer, the identification of causative 'driver' mutations shared by a subpopulation of patients and the subsequent design of small-molecule inhibitors against them is a classical blueprint in cancer drug development (Hait and Hambley, 2009).
In the case of BRAF, the vast majority of mutations constitute a single amino acid substitution from valine to glutamic acid at codon 600 (V600E), resulting in a constitutively active BRAF protein that is consequently able to signal in a continuous and unopposed fashion down the MAPK pathway, thus promoting melanomagenesis and preventing apoptosis [71,72].
We contend that our results, together with those of Drown et al. [ 18], invoke a new twist on this long established pattern, by indicating that perpetual accumulation of sex-specific mitochondrial mutations constitutes a hitherto unrealized driver of this out-of-X movement for testes-specific genes.
The ability of every multicellular organism to fight off dysfunctional, mutated cells (tumors), and/or external factors that can lead to the mutations constitutes an important mechanism controlled by natural selection.
All these data together corroborate that ASXL1 mutations constitute an early event and might cooperate with other alteration such BCR/ ABL1.
The mutT2 mutation constitutes a change in codon 58 (GGA to CGA), resulting in an amino acid substitution of Gly by Arg.
