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In order to functionally characterise the consequence of the R234Q mutation identified, we performed two different assays concerning two processes, in which PTEN has been shown to play a key role, namely cell proliferation and apoptosis.
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To further understand the functional consequence of the RRM2B mutations identified, we mapped the positions of the mutated amino acids on the tertiary p53R2 structure (Smith et al., 2009) (Fig. 5).
To obtain an estimate of the average PrCa risk conferred by the LoF mutations identified, we carried out a modified segregation analysis using information on 186 probands of European ancestry.
Of the mutations identified, we examined their likely pathogenicity on the basis of prevalence in a case-control cohort, co-segregation analyses and loss of heterozygosity (LOH) studies in tumor tissues.
Of the mutations identified, we examined their likely pathogenicity on the basis of prevalence in a case-control cohort, co-segregation analyses and loss of heterozygosity (LOH) in tumor tissues.
In order to understand the physiologic role of the mutations identified we purified a minimal motor domain of WT and selected mutants of KIF1A (amino acids 1 357) and performed microtubule gliding assays with the WT and mutant kinesins on glass coverslips.
As the number of mutations identified was small, we compared the clinicopathological features between tumours with KIT, NRAS or BRAF mutations and those lacking these mutations.
Among the gene mutations identified to date, we have attempted to clarify that RUNX1 mutations are a pivotal player in the molecular pathogenesis of MDS.
Given the unexpected compound heterozygous COL4A4 mutations identified in III-1, we reprocessed and reanalyzed his EM specimen.
The beneficial mutations identified span multiple pathways, and we identified pairs of mutations that individually provide only minor decreases in antibiotic susceptibility but that combine to provide higher tolerance.
In order to reveal the significance of the interactions, we exploited mutations identified in cancer patients, mapping them onto key proteins of this network.
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