Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity
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چکیده
منابع مشابه
Gene variants of adhesion molecules act as modifiers of disease severity in MS
OBJECTIVE To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS). METHODS A total of 389 Greek MS cases and 336 controls were recruited in 3 MS centers from Cyprus and Greece. We genotyped 147 tagging single nucleotide polymorphisms (SNPs) in 9 genes encoding for P-se...
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متن کاملPolymorphic variants of CYP2C9: mechanisms involved in reduced catalytic activity.
CYP2C9 catalyzes the demethylation of the biphasic kinetics substrate (S)-naproxen, and the CYP2C9*2 (R144C) and CYP2C9*3 (I359L) variants are associated with lower rates of (S)-naproxen demethylation. To assess the reasons for these reductions in catalytic activity of the two variants and potential substrate concentration-dependent differences in a biphasic kinetics substrate, cytochrome P450 ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2021
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.24221