Genetic Polymorphisms in Drug-Metabolizing Enzymes and Drug Targets

Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels.

1992 • 1,181 citations

The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans.

1994 • 958 citations

Amino-Terminal Polymorphisms of the Human .beta.2-Adrenergic Receptor Impart Distinct Agonist-Promoted Regulatory Properties

1994 • 780 citations

Molecular Diagnosis of Thiopurine S-Methyltransferase Deficiency: Genetic Basis for Azathioprine and Mercaptopurine Intolerance

1997 • 765 citations

Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese.

1994 • 749 citations

Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile.

1987 • 720 citations

N-acetylation pharmacogenetics.

1985 • 637 citations

The Role of a Common Variant of the Cholesteryl Ester Transfer Protein Gene in the Progression of Coronary Atherosclerosis

1998 • 634 citations

Mutations in the Gene Encoding for the β₂-adrenergic Receptor in Normal and Asthmatic Subjects

1993 • 633 citations

The role of the CFP2C9-Leu 359 allelic variant in the tolbutamide polymorphism

1996 • 584 citations

Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH2(2) allele is dominant.

1989 • 579 citations

Biochemistry and molecular biology of the human CYP2C subfamily

1994 • 534 citations

Impaired (S)-warfarin metabolism catalysed by the R144C allelic variant of CYP2C9

1994 • 500 citations

RESPONSE: Re: Modification of Clinical Presentation of Prostate Tumors by a Novel Genetic Variant in CYP3A4

1999 • 478 citations

Interethnic differences in genetic polymorphism of debrisoquin and mephenytoin hydroxylation between Japanese and Caucasian populations

1985 • 459 citations

Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells.

1995 • 443 citations

Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals.

1984 • 442 citations

Geographical/Interracial Differences in Polymorphic Drug Oxidation

1995 • 431 citations

Human ArylamineN-Acetyltransferase Genes: Isolation, Chromosomal Localization, and Functional Expression

1990 • 429 citations

Population study of dihydropyrimidine dehydrogenase in cancer patients.

1994 • 428 citations

Nomenclature for human CYP2D6 alleles

1996 • 406 citations

The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes

1990 • 387 citations

Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy.

1993 • 371 citations

The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations

1999 • 362 citations

Modification of Clinical Presentation of Prostate Tumors by a Novel Genetic Variant in CYP3A4

1998 • 348 citations

CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: Evidence for an allelic variant with altered catalytic activity

2000 • 346 citations

Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians.

1996 • 321 citations

Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein gene on plasma high density lipoprotein and the risk of myocardial infarction.

1995 • 313 citations

A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase.

1995 • 303 citations

A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles.

1995 • 293 citations

Clinical significance of the sparteine/debrisoquine oxidation polymorphism

1989 • 292 citations

Genetic polymorphism of CYP2C9 and its effect on warfarin maintenance dose requirement in patients undergoing anticoagulation therapy

1995 • 280 citations

Polymorphism of the thiopurine S-methyltransferase gene in African- Americans

1999 • 272 citations

Racial differences in alcohol sensitivity: A new hypothesis

1979 • 259 citations

Allelic Variants of Human Cytochrome P450 2C9: Baculovirus-Mediated Expression, Purification, Structural Characterization, Substrate Stereoselectivity, and Prochiral Selectivity of the Wild-Type and I359L Mutant Forms

1996 • 256 citations

Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms

1996 • 246 citations

Thiopurine methyltransferase alleles in British and Ghanaian populations

1999 • 245 citations

Thiopurine methyltransferase activity in American white subjects and black subjects

1994 • 241 citations

N-acetyltransferase

1989 • 237 citations

Five of 12 forms of vaccinia virus-expressed human hepatic cytochrome P450 metabolically activate aflatoxin B1.

1990 • 236 citations

A tobacco smoke-derived nitrosamine, 4-(methytnitrosamino)-1-(3-pyridyl)-1-butanone, is activated by multiple human cytocbrome P450s including the polymorphic human cytochrome P4502D6

1991 • 235 citations

Debrisoquine/Sparteine Hydroxylation Genotype and Phenotype: Analysis of Common Mutations and Alleles ofCYP2D6in a European Population

1991 • 224 citations

Metoprolol and mephenytoin oxidation polymorphisms in Far Eastern Oriental subjects: Japanese versus mainland Chinese

1989 • 221 citations

Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver.

1990 • 217 citations

Heterogeneity at theCETPGene Locus

1997 • 212 citations

Characterisation and PCR‐based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population

1999 • 207 citations

Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily

1991 • 200 citations

Detection of CYP2C9 polymorphism based on the polymerase chain reaction in Chinese

1995 • 195 citations

Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2.

1985 • 194 citations

Identification of the human liver cytochrome P-450 responsible for coumarin 7-hydroxylase activity

1990 • 193 citations

Known variant DPYD alleles do not explain DPD deficiency in cancer patients

2000 • 184 citations

DNA polymorphism at the locus for human cholesteryl ester transfer protein (CETP) is associated with high density lipoprotein cholesterol and apolipoprotein levels

1989 • 182 citations

Serotonin, schizophrenia and antipsychotic drug action

1995 • 172 citations

Characterization of the Human Dihydropyrimidine Dehydrogenase Gene

1998 • 167 citations

Ethnic differences in thiopurine methyltransferase pharmacogenetics

1999 • 167 citations

Interindividual variability of coumarin 7-hydroxylation in healthy volunteers

1992 • 165 citations

Human cytochrome P450IIA3: cDNA sequence role of the enzyme in the metabolic of promutagens comparison to nitrosamine activation by human cytochrome P450IIE1

1990 • 145 citations

Effects of changing glutamate 487 to lysine in rat and human liver mitochondrial aldehyde dehydrogenase. A model to study human (Oriental type) class 2 aldehyde dehydrogenase.

1994 • 145 citations

Roles of Cytochrome b5in the Oxidation of Testosterone and Nifedipine by Recombinant Cytochrome P450 3A4 and by Human Liver Microsomes

1996 • 140 citations

Human kidney thiopurine methyltransferase purification and biochemical properties

1983 • 132 citations

Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects

1998 • 126 citations

Lack of association between polymorphisms in the 5-HT2A receptor gene and the antipsychotic response to clozapine

1996 • 125 citations

Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity.

1998 • 118 citations

Detection of known and new mutations in the thiopurineS-methyltransferase gene by single-strand conformation polymorphism analysis

1998 • 112 citations

A new deleted allele in the human cytochrome P450 2A6 (CYP2A6) gene found in individuals showing poor metabolic capacity to coumarin and (+)-cis-3,5-dimethyl-2-(3 -pyridyl)thiazolidin-4-one hydrochloride (SM-12502)

1998 • 111 citations

A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anticonvulsant drug S-mephenytoin.

1999 • 109 citations

The stereoselective metabolism of fluoxetine in poor and extensive metabolizers of sparteine

1999 • 101 citations

Nomenclature for human DPYD alleles

1998 • 96 citations

A new CYP2A6 gene deletion responsible for the in vivo polymorphic metabolism of (+)-cis-3,5-dimethyl-2-(3-pyridyl)thiazolidin-4-one hydrochloride in humans.

1999 • 96 citations

Dihydropyrimidine dehydrogenase pharmacogenetics in patients with colorectal cancer

1998 • 92 citations

Metoprolol oxidation polymorphism in a Korean population: comparison with native Japanese and Chinese populations.

1991 • 89 citations

Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population

2000 • 87 citations

Comparison of a novel thin-layer chromatographic—fluorescence detection method with a spectrofluorometric method for the determination of 7-hydroxycoumarin in human urine

1992 • 87 citations

Effect of the Insertion/Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene on Response to Angiotensin-Converting Enzyme Inhibitors in Patients with Heart Failure

1998 • 82 citations

Perspectives on the role of serotonergic mechanisms in the pharmacology of schizophrenia

1997 • 82 citations

Genotyping of N-acetylation polymorphism and correlation with procainamide metabolism*

1997 • 78 citations

Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity.

1998 • 73 citations

Interindividual variability of coumarin 7-hydroxylation in a Turkish population

1994 • 69 citations

Structural organization of the human dihydropyrimidine dehydrogenase gene.

1997 • 67 citations

Analysis of neuroleptic binding affinities and potencies for the different human D2 dopamine receptor missense variants

1999 • 67 citations

Purine substrates for human thiopurine methyltransferase

1994 • 65 citations

5-HT2 receptor gene locus: association with schizophrenia or treatment response not detected.

1996 • 57 citations

The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease

1995 • 56 citations

Evidence for polymorphic oxidation of sparteine in Japanese subjects.

1987 • 55 citations

Functional analysis of the human D5 dopamine receptor missense and nonsense variants: differences in dopamine binding affinities.

1999 • 50 citations

5-HT2 receptor gene locus

1996 • 50 citations

Genetic polymorphism of drug metabolizing enzymes: new mutations in CYP2D6 and CYP2A6 genes in Japanese.

1998 • 48 citations

A new variant CYP2D6 allele (CYP2D6*21) with a single base insertion in exon 5 in a Japanese population associated with a poor metabolizer phenotype

1999 • 48 citations

Metabolic and genetic control of HDL cholesterol levels

1992 • 46 citations

Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid

1998 • 41 citations

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