Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.
Data up to Jan 2025
Total Citations Per Year
Abstract
References (28)
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1987 • 64,270 citations
Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile.
1987 • 720 citations
Analysis of chemical modification of RNA from formalin-fixed samples and optimization of molecular biology applications for such samples
1999 • 664 citations
Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.
1988 • 500 citations
Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.
1996 • 365 citations
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.
2000 • 353 citations
Quantitation of Dihydropyrimidine Dehydrogenase Expression by Real-Time Reverse Transcription Polymerase Chain Reaction
2000 • 345 citations
Quantitative competitive polymerase chain reaction for accurate quantitation of HIV DNA and RNA species.
1993 • 319 citations
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
1999 • 272 citations
Optimisation of DNA and RNA extraction from archival formalin-fixed tissue
1999 • 257 citations
Familial Pyrimidinemia and Pyrimidinuria Associated with Severe Fluorouracil Toxicity
1985 • 254 citations
Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients.
1992 • 233 citations
Severe 5-fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome
1991 • 225 citations
Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil.
1999 • 223 citations
Known variant DPYD alleles do not explain DPD deficiency in cancer patients
2000 • 184 citations
Characterization of the Human Dihydropyrimidine Dehydrogenase Gene
1998 • 167 citations
Severe neurotoxicity following 5-fluorouracil-based chemotherapy in a patient with dihydropyrimidine dehydrogenase deficiency.
1996 • 164 citations
Human Polymorphism in Drug Metabolism: Mutation in the Dihydropyrimidine Dehydrogenase Gene Results in Exon Skipping and Thymine Uracilurea
1995 • 135 citations
Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects
1998 • 126 citations
cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria.
1994 • 121 citations
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity
1997 • 110 citations
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
1996 • 101 citations
Dihydropyrimidine dehydrogenase pharmacogenetics in patients with colorectal cancer
1998 • 92 citations
Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity.
1998 • 73 citations
Structural organization of the human dihydropyrimidine dehydrogenase gene.
1997 • 67 citations
Putative Role of Dihydropyrimidine Dehydrogenase in the Toxic Side Effect of 5-Fluorouracil in Colorectal Cancer Patients
1998 • 52 citations
5-Fluorouracil Pharmacokinetics: Causes for Variability and Strategies for Modulation in Cancer Chemotherapy
1999 • 44 citations
Mutations at codon 974 of the DPYD gene are a rare event
1997 • 9 citations