Associated Papers
[Characterization of Genetic Polymorphisms Related to 5-FU Metabolizing Enzymes in Japanese Populations].
Hishinuma E
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2026
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Common dihydropyrimidinase ( DPYS ) genetic variations do not predict fluoropyrimidine-related chemotherapy toxicity in a Canadian cohort.
Medwid SJ et al.
Pharmacogenetics and Genomics, 2024
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria.
Wu J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Albokhari D et al.
Cold Spring Harbor Molecular Case Studies, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity.
Hishinuma E et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.
Yokoi K et al.
Cancer Science, 2020
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Nakajima Y et al.
Molecular Genetics and Metabolism, 2017
Functional characterization of 21 allelic variants of dihydropyrimidinase.
Hishinuma E et al.
Biochemical Pharmacology, 2017
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
Nakajima Y et al.
International Journal of Molecular Sciences, 2016
Novel single nucleotide polymorphisms of the dihydropyrimidinase gene (DPYS) in Japanese individuals.
Akai F et al.
Drug Metabolism and Pharmacokinetics, 2015
Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity.
Hiratsuka M et al.
Plos One, 2015
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.
Chang HS et al.
Jimd Reports, 2012
Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.
Fidlerova J et al.
Cancer Chemotherapy and Pharmacology, 2010
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
Hamajima N et al.
American Journal of Human Genetics, 1998