Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
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Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patientsGenetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicityAssociation of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigmaDPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147).Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activityA DPYD variant (Y186C) specific to individuals of African descent in a patient with life-threatening 5-FU toxic effects: potential for an individualized medicine approach.Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 yearsDihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity.Analysis of pyrimidine catabolism in Drosophila melanogaster using epistatic interactions with mutations of pyrimidine biosynthesis and beta-alanine metabolismGenetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.Deflavination and reconstitution of flavoproteins.Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.How may anticancer chemotherapy with fluorouracil be individualised?Regulation of human dihydropyrimidine dehydrogenase: implications in the pharmacogenetics of 5-FU-based chemotherapy.Evaluation of clinical value of single nucleotide polymorphisms of dihydropyrimidine dehydrogenase gene to predict 5-fluorouracil toxicity in 60 colorectal cancer patients in ChinaPharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicityScreening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency.DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis.Pharmacogenomics of fluorouracil -based chemotherapy toxicity.Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score.Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant.Sequence analysis of the 5'-flanking regions of human dihydropyrimidine dehydrogenase gene: identification of a new polymorphism related with effects of 5-fluorouracil.Germline TYMS genotype is highly predictive in patients with metastatic gastrointestinal malignancies receiving capecitabine-based chemotherapy.Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity.Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients.The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients.Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.(13)C-uracil breath test to predict 5-fluorouracil toxicity in gastrointestinal cancer patients.Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation.Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients.Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update.DPYD*2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer.Correlation between DPYD gene variation and KRAS wild type status in colorectal cancer.SNPs in predicting clinical efficacy and toxicity of chemotherapy: walking through the quicksand.
P2860
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P2860
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Novel disease-causing mutation ...... -dimensional protein structure
@ast
Novel disease-causing mutation ...... -dimensional protein structure
@en
Novel disease-causing mutation ...... -dimensional protein structure
@en-gb
Novel disease-causing mutation ...... -dimensional protein structure
@nl
type
label
Novel disease-causing mutation ...... -dimensional protein structure
@ast
Novel disease-causing mutation ...... -dimensional protein structure
@en
Novel disease-causing mutation ...... -dimensional protein structure
@en-gb
Novel disease-causing mutation ...... -dimensional protein structure
@nl
prefLabel
Novel disease-causing mutation ...... -dimensional protein structure
@ast
Novel disease-causing mutation ...... -dimensional protein structure
@en
Novel disease-causing mutation ...... -dimensional protein structure
@en-gb
Novel disease-causing mutation ...... -dimensional protein structure
@nl
P2093
P2860
P921
P356
P1433
P1476
Novel disease-causing mutation ...... -dimensional protein structure
@en
P2093
Albert H van Gennip
André B P van Kuilenburg
Anne Aukett
Doreen Dobritzsch
George D Maropoulos
Guido Hein
Hans R Waterham
Hermann Kalhoff
Holger Baaske
Janet Haasjes
P2860
P304
P356
10.1042/BJ3640157
P407
P577
2002-05-15T00:00:00Z