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Our findings on mfERG testing demonstrate the effect of Lyonisation on retinal function in carriers of XLRS.
Many of these had already been implicated in the risk for psychiatric illness, and imaging offered the opportunity to study differences in brain connectivity or function, in carriers of genetic variants associated with disease risk.
A growing number of neuroimaging studies have demonstrated evidence of early alterations in brain structure and function in carriers of autosomal-dominant mutations prior to the onset of clinical dementia.
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In contrast to this loss of function, a gain of function has also been described in carriers of the PTPN22 T allele [ 20].
Using the primer set, we analyzed the frequency of the R450H mutation in the general population of Japanese adults and the effect of the mutation on the thyroid function in the carriers of this mutation.
Results might be expected to mirror the interaction with loss of function alleles, with lower risks of events in carriers of the *17 allele than in non-carriers.
A metabolomic study revealed that the plasma concentrations of some MRP2 substrates were increased in carriers of ABCC2 rsuggesting suggesting a decreased function of MRP2.
The random effects summary odds ratio for stent thrombosis in carriers of at least one CYP2C19 loss of function allele versus non-carriers combining nine studies was 1.77 (95% confidence interval 1.31 to 2.40; P<0.001).
Since the age of onset in carriers of the R62H mutation is significantly earlier than in affected non-carriers even after correcting for ApoE genotype, the R62H mutation may function as a disease modifier.
In recent years, substantial evidence has accumulated that OBPs function as carriers of hydrophobic ligands in the olfactory system (Wojtasek and Leal 1999; Xu et al. 2005; Grosse-Wilde et al. 2006; Swarup et al. 2011).
In the nanoassemblies, GQDs function as carriers of sensitiser PPIX and confers the system cancer cell targeting ability.
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CEO of Professional Science Editing for Scientists @ prosciediting.com