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Keyomarsi et al., found that cyclin E expression plays a strong role in human breast cancer tumors and the cyclin E-CDK2 complex remains active throughout the cell-cycle suggesting the now established hypothesis that truncated (deregulated) cyclin E variants were responsible for the constitutive function of cyclin E-CDK2 in breast cancer tumors [72], [73].
Although many nonsynonymous MC1R gene variants exist [ 10, 48], the six 'R' variants were responsible for most of the improvement to risk prediction in this study and thus would be the most important MC1R gene variants to include in melanoma prediction tools if it was not feasible or economically justifiable to measure all variants.
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These two variants are responsible for just a small fraction less than 1%—of the variation in caffeine intake among the subjects, suggesting that rarer variants, which this study didn't search for, are still out there, Cornelis says.
This evidence further suggests that DNA Pol IV and its variants are responsible for effecting mutagenesis.
Using macroH2A2 knockout ES cells (Figure 4A), and even macroH2A2 knockout ES with knockdown of macroH2A1, the centrosomal staining was still apparent indicating that none of the three macroH2A variants is responsible for the centrosomal signal (Figure 4B).
Not only does the biology of Cox-2 in kidney development support our hypothesis that these promoter allelic variants are responsible for RD in dogs, but the fact that the mutations are located just upstream of the ATG translation start site justifies the mode of inheritance strengthens our argument as mutations that are dominant with incomplete penetrance, can be mutations in regulatory sequences.
However, which CD44 variants are responsible for the TISC phenotypes has yet to be elucidated.
Identifying precisely which genetic variants are responsible for changing regulatory activity can be difficult.
Small differences in known histone variants are responsible for variant-specific chaperone and chromatin remodeling enzyme recognition [ 19, 20].
PINK1 variants are responsible for PD through a mechanism that is thought to involve oxidative stress caused by mitochondrial dysfunction.
In Italy, such rare variants are responsible for 11% of cases of severe deficiency of alpha-1 antitrypsin.
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