Exact(1)
There are no population frequency data available for the microsatellite markers used in this study, but the presence of homogeneous blocks in the proximity of POLG in the face of high variability in these markers further downstream or upstream is in keeping with a single common European ancestor for the p.Ala467Thr mutation, as suggested previously (Luoma et al., 2005).
Similar(59)
Thus, IDH1 mutations may require other key genetic events in a specific context for full-blown tumorigenesis, which may include SETD2 mutations as suggested by our cohort.
Although the deleterious class exhibited increased variants with deleterious effects, a more informative approach would be to examine a subset of variants with an even higher likelihood of being deleterious, e.g. nonsense mutations as suggested by Szpiech et al. [ 24], as these are more likely to interfere with normal protein functioning.
The unexpected high allelic variation in the AChE2 gene in addition to the ancestral origin could be due to recombination or to multiple origins of resistance-associated mutations as suggested in the case of Tribolium castaneum resistance to cyclodiene insecticide [ 41].
The V14 epitope was blocked by the F198S mutation as well, suggesting that the F198S mutation may also rupture the disulfide bond.
On the 123 primary transformants obtained, 18 were homozygous for the mutation (nof1-1) asuggesteded by the resistance of their progenies to kanamycin and confirmed by genotyping by PCR (data not shown).
This suggests that the variant is not a high-risk mutation but, as suggested previously [ 13], is more likely to be a benign polymorphism.
Since Lhx2 is always integrated into the same position, close to the Hprt1 gene in the DoxHPC lines, expression of insertional mutagenesis target genes is not due to insertional mutation, as has been suggested for retroviral integration [ 49], hence, these genes are more likely to be linked to Lhx2 function and/or stem cell function.
These radiation events of division arrest, prophage induction and UV-induced mutation, were related as suggested [ 31], which led Miroslav Radman to conclude that irradiated E. coli undergoes DNA damage repair through SOS response [ 1, 2].
The aim of this study was to extensively validate an association of MUTYH mutations with BC, as suggested in three previous studies [ 4, 6, 7].
Overall, we show that targeted, multiplexed NGS panels assessing customised ROIs can quickly and cost-effectively allow drug development units to enrich their trials with patients harbouring mutations of interest as suggested by the PhAT.
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