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Microarray analysis confirmed this dysregulation: elevated expression (1.5 fold) of the LDL receptor gene was readily detected in NPC fibroblasts homozygous for the I1061T mutation when compared with normal fibroblasts (Table 1).
DNMT3L methylation percentage across all CpG sites analysed for cases with BRAF and KRAS mutation revealed increased methylation of the DNMT3L promoter in cases with a KRAS mutation when compared with polyps with the normal variant (p = 0.0053), however due to small number of cases this observation need to be investigated in a larger number of polyps harbouring KRAS mutation.
Gefitinib-resistant subpopulations demonstrated increased Akt phosphorylation (not inhibited by gefitinib), reduced PTEN protein expression and loss of the EGFR gene mutation when compared with parental cell lines.
Importantly, we also report increased autofluorescent aggregates in the frontal cortex of FTD-3 patients with the CHMP2B mutation, when compared to neurodegenerative disease controls.
Interestingly, at 9 weeks of age the angle at the hip was greater in mice homozygous for the mutation when compared to their wild-type or heterozygous littermates.
Thus, 5 serum-derived variants (Pt. 1, 2, 7, and 9) contained only a single mutation when compared to the strains in baseline population.
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We show that pyrosequencing pooled surveillance specimens can cost-competitively detect protease TDR mutations when compared with conventional methods.
Sequences contained from one to 28 (on the average 11) mutations, when compared to the HIV-1 subtype B consensus sequence reported at the Stanford database [35].
Further, in the HA gene, the Ck/India/WB-NIV2812/08 isolate of Birbhum showed a maximum of six unique mutations when compared to other Indian isolates.
Our data combined with the data of Kastritis et al. show a significantly lower frequency of truncating mutations when compared with data obtained for colorectal cancer from the COSMIC database (p<0.0001, Chi-2).
Thus, no decrease in BRG1 expression levels was observed in patients with Pro327Pro and Pro1297Pro mutations when compared to controls.
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