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Gene set enrichment analysis on these mutations revealed higher activity of drug-metabolizing enzymes, including the CYP3A4 cytochrome P450.
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Also, primary AML cells with oncogenic N-RAS mutations revealed a higher expression of differentiation markers as compared to patients lacking such mutations (Figure 5E).
A patient with ACE mutations revealed a high plasma renin activity, high active renin concentration and low ACE concentration [ 7], as shown in the present case.
All subclonal mutations revealed a high proportion of C > T/G > A transitions (24 of 36 mutations; Fig. 1D), which, although atypical for somatic hypermutation where transition to transversion ratios are ≈1 1, points to the action of cytidine deamination.
In addition, bacterial cloning of the PCR products followed by DNA sequencing revealed high mutation rates (≥50%), confirming the powerful potential of the all-in-one FokI-dCas9 vector for GEM generation.
In the current study we analyzed the relationship between MDM2 309 SNP status and cancer in a large group of Ashkenazi patients including a large group of BRCA1/2 mutation carriers Our results revealed high percentage of MDM2 309 SNP in this population of around a quarter of all women.
In conclusion, our experience from predictive testing for KRAS mutations reveal a high mutation frequency (67%) in rectal cancers from females and thus implicates that this subset is the least likely to respond to anti-EGFR therapies.
Recently, several exome-sequencing studies of endometrial cancer revealed high frequency somatic mutations in SPOP (5.7 10%).
Sequencing these fragments revealed high homology, with several point mutations, four deletions in female and one in the male sequences.
In vitro studies shown in several cell lines with Ras-activating mutations revealed that these cells exhibit high levels of basal autophagy and marked autophagy-dependent survival under conditions of nutrient deprivation.
Although no somatic mutations (exon 3) of beta-catenin were detected, Western blot analysis revealed high levels of beta-catenin in diseased palmar fascia, and low to undetectable levels of beta-catenin in patient-matched normal palmar fascia.
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