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Results show that 6 of 10 mutations we tested (R714C, R1608Q, R1384Q, -D2, -D1&D2 and –Ig) exhibited completely or considerably reduced PTPRS activity compared to WT PTPRS plasmid.
The two other point mutations we tested in this study, T158M and R306C, like R133C, may retain their compaction properties and thus their repressive effect on MHC genes.
Our studies showed similar CHIP-mediated degradation of wild-type LRRK2 and LRRK2 with disease-linked point mutations (Figure 3C), therefore the pathogenic mechanisms of the mutations we tested do not likely involve diminished CHIP-mediated degradation.
Identification of previously undocumented putative variations Having shown the utility of WGS for mapping known changes (insertion and point mutations), we tested whether we could identify previously unknown genotypes for specific phenotypes.
For one, it is possible that the mutations we tested do not sufficiently reduce the overall activity of the Tl→NFκB signaling pathway as heterozygotes to have much of an impact on the average life span of the UAS-Aβ42/elav-GAL4 flies.
Using 166 protein-truncating mutations, we tested the difference in variant allele fractions across tumor types.
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To determine whether the 11 top-ranked features' set contributes to the prediction of driver mutations, we test independent set between DX-RF and Tan et al.'s method and construct four classifiers, called DX-SVMLight, DX-LibSVM, DX-RF, and mRMR-RF, respectively.
The first Tl mutation we tested, Tlr4, is an ethylmethanesulfonate (EMS) induced allele.
In order to examine whether this phenotype is a direct consequence of the FYVE-CENT R1945Q mutation, we tested whether R1945Q mutation can rescue the arrest in cytokinesis observed upon FYVE-CENT depletion.
The third additional ICR mutation we tested lacked the Rasgrf1 repeats and replaced them with the differentially methylated domain, referred to as Region 2, from the imprinted and maternally expressed Igf2r gene (R2 allele).
To further characterize the effects of PDR1 mutation, we tested the ability of the PDR1 -249 allele to suppress mtDNA loss on nonfermentable medium from cells expressing AAC2 and deficient for mitochondrial fusion.
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