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In our epithelial cell cultures, there was a trend toward lower FGFR2 mRNA expression in carriers of one or two copies of the risk allele, but the differences were very small.
In addition, we found an increase in MIF mRNA expression in carriers of the 6,6 and C/C genotypes and the 6G haplotype of the −794 Cand5–8 and −173 G>C MIF polymorphisms, although it was not significant.
To elucidate whether a loss of ELP3 function was indeed the mechanism in the ALS population, we determined levels of ELP3 expression in carriers of the ELP3 genetic variants.
Lyssenko et al. (28) used the assay 'ex7 8' of TCF7L2 in 15 samples of human pancreatic islets and reported a significantly higher expression in carriers of rs7903146 risk genotypes.
However, the top GWAS hit (rs1561570) was found to be a strong expression quantitative trait locus (eQTL) in human monocytes (Zeller et al., 2010) and in peripheral blood mononuclear cells (Westra et al., 2013) with substantially reduced levels of OPTN mRNA expression in carriers of the PDB-predisposing "T" allele with an evidence of an allele-dose effect.
In addition, post hoc mining of the expression dataset showed that another SNP (rs10242920 - ELMO1) association that was consistent with the effect reported in the CGEMS dataset was also actually associated with altered expression in carriers, albeit with less significance (P = 0.005) than originally used for gene and SNP selection.
Similar(54)
Indeed, a significantly lower expression in T carriers versus C carriers (amounting to around 50%) was detected with primers amplifying both MECP2 isoforms, whereas MECP2_e2 alone showed no expression difference dependent on the rs2734647 genotype (Fig 6F).
The comparison of gene expression in ApoE4 carriers to non-carriers within the same Braak stages (separate two-class unpaired analysis for limbic and neocortical stage AD patients) confirmed that the ApoE genotype had no effect on the expression of the rapamycin-regulated genes in AD patients (data not shown).
Although heterozygous female carriers of X-linked recessive mutations generally do not exhibit traits characteristic of the disorder, cases of mild or partial phenotypic expression in female carriers have been reported, resulting from nonrandom X inactivation.
In contrast, the exon 9 primers did not detect a decrease in DISC1 expression in translocation carriers compared with normal karyotype controls (Fig. 2B).
We suggest that reduced p27kip1 expression in -838A carriers may facilitate the proliferative response associated with atherosclerosis, thus increasing the risk of MI in these individuals.
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