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Article

Characterization of the human dihydropyrimidine dehydrogenase gene.

Genomics - 1 Aug 1998

Wei X, Elizondo G, Sapone A, McLeod H L, Raunio H, Fernandez-Salguero P, Gonzalez F J

Abstract excerpt

Dihydropyrimidine dehydrogenase (DPD) catabolizes endogenous pyrimidines and pyrimidine-based antimetabolite drugs. A deficiency in human DPD is associated with congenital thymine-uraciluria in pediatric patients and severe 5-fluorouracil toxicity in cancer patients. The dihydropyrimidine dehydro...

Topics

Alleles
Cloning, Molecular
Dihydrouracil Dehydrogenase (NADP)
Exons
Fluorouracil
Gene Dosage
Humans
Introns
Leukocytes
Neoplasm Proteins
Oxidoreductases
Point Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

RNA, Messenger

Restriction Mapping

Thymine

Uracil

Source

Identifiers

PMID: 9721209
DOI: 10.1006/geno.1998.5379

Genes

DPYD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9721209-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Characterization of the human dihydropyrimidine dehydrogenase gene.PMID 9721209Read ↗

Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.Semantic proximity Read ↗

Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography.Semantic proximity Read ↗

Functional Characterization of 21 Allelic Variants of Dihydropyrimidine Dehydrogenase Identified in 1070 Japanese Individuals.Semantic proximity Read ↗

Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.Semantic proximity Read ↗

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.Semantic proximity Read ↗

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.Semantic proximity Read ↗

High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.Semantic proximity Read ↗

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.Semantic proximity Read ↗

A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphismsSemantic proximity Read ↗

New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.Semantic proximity Read ↗

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.Semantic proximity Read ↗

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.Semantic proximity Read ↗

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