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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.
TLDR
A significant correlation of a polymorphism in exon 26 (C3435T) of MDR-1 with expression levels and function is observed and this polymorphism is expected to affect the absorption and tissue concentrations of numerous other substrates of M DR-1. Expand
Functional significance of a C-->A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine.
TLDR
The A/A genotype may either be a direct cause of increased CYP1A2 activity, or be genetically linked to polymorphisms conferring high inducibility, and further studies are needed to define the role of this polymorphism on the pharmacokinetics of drugs metabolised by CYP 1A2 and in the activation of carcinogens. Expand
Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences.
TLDR
A solid basis is provided for prediction of CYP2D6 capacity, as required in drug research and routine drug treatment, and significant differences in enzymatic activity measured by the dextromethorphan metabolic ratio (MR) are shown. Expand
The genetic determinants of the CYP3A5 polymorphism.
TLDR
Investigation of the expression of CYP3A5 and its genetic determinants in a panel of 183 Caucasian liver samples reports that a SNP within intron 3 (g.6986G>A) is the primary cause of the CYP4A5 protein polymorphism, and should add to efforts to identify clinically relevant, CYP2A5-specific reactions and to further elucidate traits responsible for variable expression of the entire CYP 3A family. Expand
Clinical Consequences of Cytochrome P450 2C9 Polymorphisms
TLDR
Present knowledge about the pharmacokinetics, drug responses, and outcomes of clinical studies in individuals with different CYP2C9 genotypes is summarized. Expand
Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response
TLDR
Combinations of polymorphisms in pharmacokinetic and pharmacodynamic pathways of relevance might contribute to identify genotypes associated with best and worst responders and they may also identify susceptibility to adverse drug reactions. Expand
NAD(P)H Oxidase and Multidrug Resistance Protein Genetic Polymorphisms Are Associated With Doxorubicin-Induced Cardiotoxicity
TLDR
Genetic variants in doxorubicin transport and free radical metabolism may modulate the individual risk to develop ACT. Expand
A C4887A polymorphism in exon 7 of human CYP1A1: population frequency, mutation linkages, and impact on lung cancer susceptibility.
TLDR
No linkage of this mutation, termed m4, with other mutations such as m1 (MspI polymorphism in the 3'-flanking region) or m2 was observed on the same DNA strand, and the novel m4-mutation may not represent a susceptibility factor for lung cancer. Expand
Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity.
TLDR
The study demonstrated differential phenotypic activity of various NAT2 genes and gives a solid basis for clinical and molecular-epidemiological investigations. Expand
Pharmacokinetics of codeine and its metabolite morphine in ultra-rapid metabolizers due to CYP2D6 duplication
TLDR
CYP2D6 genotypes predicting ultrarapid metabolism resulted in about 50% higher plasma concentrations of morphine and its glucuronides compared with the EM, and it might be good if physicians would know about the CYP2D 6 duplication genotype of their patients before administering codeine. Expand
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