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When rats are genetically modified to have the Pitt-Hopkins mutation, we find abnormalities in their brain cells that seem to explain the cognitive and social abnormalities we find in people.
After adjustment for hypertrophy-influencing factors, including the particular disease-causing mutation, we find association between the G-allele of rs879922 and increased left ventricular mass (effect size: 18.7 g), maximum interventricular septal thickness (effect size: 1.9 mm) as well as maximum posterior wall thickness (effect size: 0.7 mm).
If we subtract from this figure the contribution of patients with the R14W mutation, we find that the prevalence in Italy would fall in line with the rest of Europe: this means that the epidemiological anomaly of CDA II in Italy is accounted by this particular founder effect.
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For non-mutated individuals and patients homozygous for the germinal SQSTM1/P392L mutation, we found about 3%% of contamination.
Among the 35 patients presenting with ID, macrocephaly, and a de novo mutation, we found a significant enrichment (p = 9.084e−09) for de novo mutations within genes of the mTOR pathway (9/14) compared to genes that operate in mTOR independent pathways (26/539) (Table 2).
In contrast to EGFR mutation, we found no individual SH2 domains whose binding correlated strongly with RAS mutation status by rosette or far-Western blotting.
Interestingly, the mutation we found was in homozygous state (Figure 1B), which is not expected for a protein that acts in a dominant fashion.
The novel Trp1197Stop mutation we found in subject N1 is one of the best examples of functional SNPs of this kind.
When extending this model to incorporate selection amongst strains that are continuously generated through mutation, we found that simple forms of selection will lead to simple predictions for the probability of replacement of new strains.
A2063G was the only resistance-associated mutation we found out of 4 possible mutations the assay we used can find.
For somatic mutation, we found four cis-eQTL (TP53, EGFR, NF1 and PIK3C2G).
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