Exact(3)
We speculate that MAP kinase activation due to RAS gene mutation may in part contribute to increased MICA/B expression.
Thus, the p.Ala181Val change might be predicted to alter interactions with the elongation factors, and since MRPL7/12 bound to elongation factors is predicted to have a higher affinity for the ribosome [54], the mutation may in turn affect both rate and accuracy of mitochondrial translation.
The similarities in the patterns of fermentation data between our hfsB mutant and the hfs deletion from Shaw et al. suggest that the hfs mutation may in fact be responsible for the change in distribution of products of fermentation between strains LL1164 and LL1170.
Similar(57)
These findings imply that the complex phenotype of dRTA patients related to ATP6V0A4 mutations may in part be a consequence of an impairment of proximal tubular function.
Again, a distribution of fitness effects against deleterious amino-acid mutations may in principle explain the pattern, if a larger fraction of deleterious amino-acid mutations in D. melanogaster is selected against efficiently.
Our analyses may be influenced by the fact that some mutations may, in a systematic way, never be detected.
On the one hand, it is possible that the AAA5 mutations may, in addition to preventing linker docking, disrupt dynein's mechanochemical cycle and thus also prevent ATP hydrolysis.
Single-point mutation may result in functional alteration owing to the global or local structural change in the protein.
These data indicate that BRCA LOH and TP53 mutation may coexist in epithelial inclusions prior to the appearance of a pathological lesion in ovaries from BRCA heterozygotes, and that TP53 mutation may precede BRCA LOH in some cases.
The mutation may be in a transcription factor that regulates the activity of EPAS1.
In humans, simple deficiency of many serpins (e.g., through a null mutation) may result in disease (see Table 1).
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