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Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo.
To evaluate whether alterations in the multidrug-resistance (MDR)-1 gene correlate with intestinal MDR-1 expression and uptake of orally administered P-glycoprotein (PGP) substrates, we analyzed theExpand
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Functional significance of a C-->A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine.
AIMS The cytochrome P450 enzyme CYP1A2 metabolises several drugs and carcinogens. We wanted to determine how much of the variability of CYP1A2 activity is explained by a newly discovered geneExpand
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Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences.
Cytochrome P450 2D6 (CYP2D6) metabolizes many important drugs. CYP2D6 activity ranges from complete deficiency to ultrafast metabolism, depending on at least 16 different known alleles. TheirExpand
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The genetic determinants of the CYP3A5 polymorphism.
CYP3A proteins comprise a significant portion of the hepatic cytochrome P450 (CYP) protein and they metabolize around 50% of drugs currently in use. The dissection of the individual contributions ofExpand
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Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response
Genetic factors contribute to the phenotype of drug response. We systematically analyzed all available pharmacogenetic data from Medline databases (1970–2003) on the impact that genetic polymorphismsExpand
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Clinical Consequences of Cytochrome P450 2C9 Polymorphisms
The gene coding for the cytochrome P450 (CYP) enzyme 2C9 (CYP2C9) carries numerous inherited polymorphisms. Those coding for R144C (*2) and I359L (*3) amino acid substitutions have both significantExpand
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A C4887A polymorphism in exon 7 of human CYP1A1: population frequency, mutation linkages, and impact on lung cancer susceptibility.
This study reports a C-->A transversion at position 4887 in exon 7 of cytochrome P4501A1 (CYP1A1), resulting in a threonine-asparagine exchange in codon 461. The polymorphism is located directlyExpand
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Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity.
The polymorphic arylamine N-acetyltransferase (NAT2; EC is supposed to be a susceptibility factor for several drug side effects and certain malignancies. A group of 844 unrelated GermanExpand
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Pharmacokinetics of codeine and its metabolite morphine in ultra-rapid metabolizers due to CYP2D6 duplication
Codeine is an analgesic drug acting on μ-opiate receptors predominantly via its metabolite morphine, which is formed almost exclusively by the genetically polymorphic enzyme cytochrome P450 2D6Expand
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Nomenclature for human CYP2D6 alleles.
To standardize CYP2D6 allele nomenclature, and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendationsExpand
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