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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.
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.
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).
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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.
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].
found that FLG mutations constituted a risk factor for HE in individuals with AD, but not in individuals without AD 33.
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].
The mutT2 mutation constitutes a change in codon 58 (GGA to CGA), resulting in an amino acid substitution of Gly by Arg.
The first mutation introduces a premature stop codon into the eGFP ORF, whereas the second silent mutation constitutes a tag sequence that distinguishes the corrected (sensitive to MscI restriction endonuclease digestion) from the non-corrected (not digested) plasmids.
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