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It thus appears that the NEIL1 G83D mutation modulates the catalytic capacity of NEIL1 as well as substrate specificity.
We speculate that this mutation modulates the expression and regulation of cytokines or other molecules involved in the polarization of Th1 responses.
It is plausible that the mutation modulates the enzyme's translocation kinetics by altering the rates of transition between these two conformations.
Genetic interactions, which represent the degree to which the presence of one mutation modulates the phenotype of a second mutation, could be measured systematically and quantitatively in recent years [ 1, 2].
DOI: http://dx.doi.org/10.7554/eLife.00971.016 Taken together, we have shown that the rate of entering the 1-bp backtracked state is higher than those of entering further backtracked states, and that the E1103G mutation modulates the transition kinetics between the 1-bp backtracked state and the pre-translocated state.
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Taken together, it is likely that these suppressor mutations modulate the cohesin ATPase to promote cohesion.
However, further studies are required to examine how these mutations modulate the active conformation of vinculin in FAs.
The complex neurological phenotype is likely a result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, driven by compensatory mitochondrial biogenesis.
Moreover, all these mutations modulate the same pathway, in which elevated intracellular calcium levels lead to aldosterone hyperproduction and (in some cases) adrenal cell proliferation.
The authors cleverly propose that human mutations modulating the abundance of CFIm25 could alter MECP2 levels leading to an abnormal phenotype as it is well established that MECP2 levels are tightly controlled in humans.
When more than one record (i.e., one row of the database) exists for a given hypothesis (e.g., BRAF mutation V600E modulates the efficacy of small molecule inhibitor sorafenib), we propose a score-based approach to make a summary of the available evidence.
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