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Both GRP78 levels and the ratio between spliced and unspliced variants of Xbp were similar to those of cells transfected with the other variants or control cells (Fig S2A,B), suggesting that the observed apoptogenic effects were not caused by the misfolded protein response or the ACh hydrolytic properties of N-AChE-S.
MEFs were transfected with plasmids encoding the indicated SAR1A-DsRed variants or control DsRed.
The 2 × 2 contingency table (Table 5) shows the number of variants that locate within or outside promoter regions for Mendelian variants or control group SNPs.
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We subtracted disease-associated variants from all SNPs of dbSNP database and considered the remaining SNPs the genome variant background or control group.
We selected papers according to the following inclusion criteria: 1) observational studies on single-primary sporadic skin cancer cases with information on any MC1R variant or 2) control series with information on any MC1R variant and at least one phenotypic characteristic under study.
PARP cleavage was found to be enhanced three-fold by ectopic expression of TRAIL- α in comparison with the other TRAIL variants or the vector control.
However, we wanted to explore whether the additional amino acids present at the C-terminus of PIPKIγ_i4 and PIPKIγ_i5 affected the activity of the enzymes towards PtdIns4 P. To test this, an in vitro kinase activity assay was done using His6-tagged recombinant PIPKIγ splice variants or PIPKIα (positive control), PtdIns4 P micelles, and [γ-P]ATP.
This scoring system with some minor modifications was tested using previously described pathogenic mutations, for which functional studies had been performed, as positive controls, and known neutral variants or polymorphisms as negative controls.
The uptake was measured in HEK293 cells stably transfected with the OCT1 variants or with an empty control plasmid pcDNA5.
Receiver operating characteristic (ROC) analysis was used to assess the ability of eXtasy to discriminate disease-causing from rare control variants or common polymorphisms.
Information was not available for the other SNPs likely because they were either rare variants or failed imputation quality control for other reasons.
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