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The gene regulation results show a functional effect of IFI16 on GR function, and coimmunofluorescence studies show that IFI16 and GR are colocated in both cytoplasmic and nuclear compartments.
SIFT was used to assess the likelihood of a functional effect of the mutation [29].
Suppression of recombinant HCN2 single-channel activity by KCR1 clearly demonstrated a functional effect of KCR1 on HCN channel behavior.
These results do not disprove a functional effect of the substitution as it may be that the effect is modest or only apparent in vivo.
Together these data indicate that RelB's ability to reduce TNFα production in Tat-exposed cells results from a functional effect of RelB, and is not due to overexpression of RelB interfering with cells' ability to respond to Tat.
No significant differences were found in the mtDNA/nDNA ratio between the controls (292±35) and the mutants (289±38) belonging to haplogroup H. Taken as a whole, our results demonstrate a functional effect of the mtDNA genetic background of the mutant clones in the assembly kinetics of respiratory chain complexes.
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To investigate whether this methylation had a functional effect on expression of SFRP3, we used RT-QPCR and immunofluorescence.
Interestingly, rs9461045, one of these two markers, has a functional effect on the expression of KIAA0319 (29).
The analysis of the sequences did not evidence new mutations with a functional effect on the development of disease.
The significant reduction in IFNγ gene expression, however, certainly suggests an effective functional effect of T-cell modulation on the synovium.
However, a contribution to a functional effect by any of these SNPs on ERAP1 cannot be completely excluded from this analysis alone.
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