A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
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Subcellular localization of dihydropyrimidine dehydrogenaseHigh-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.5-fluorouracil pharmacokinetics: causes for variability and strategies for modulation in cancer chemotherapy.Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity.The effect of dihydropyrimidine dehydrogenase deficiency on outcomes with fluorouracil.Part 2: pharmacogenetic variability in drug transport and phase I anticancer drug metabolism.Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects.Allele and genotype frequencies of polymorphic cytochromes P450 (CYP2C9, CYP2C19, CYP2E1) and dihydropyrimidine dehydrogenase (DPYD) in the Egyptian population.Dihydropyrimidine dehydrogenase pharmacogenetics in patients with colorectal cancer.Characterization of dihydropyrimidine dehydrogenase in human colorectal tumoursPharmacogenomics of drug metabolizing enzymes and transporters: implications for cancer therapy.Profound variation in dihydropyrimidine dehydrogenase activity in human blood cells: major implications for the detection of partly deficient patients.Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Hypermethylation of the DPYD promoter region is not a major predictor of severe toxicity in 5-fluorouracil based chemotherapy.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.Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.Association of genetic variability in enzymes metabolizing chemotherapeutic agents with treatment response in head and neck cancer cases.Sequence analysis of the 5'-flanking regions of human dihydropyrimidine dehydrogenase gene: identification of a new polymorphism related with effects of 5-fluorouracil.Gender-specific elimination of continuous-infusional 5-fluorouracil in patients with gastrointestinal malignancies: results from a prospective population pharmacokinetic study.Successful use of uridine triacetate (Vistogard) three weeks after capecitabine in a patient with homozygous dihydropyrimidine dehydrogenase mutation: A case report and review of the literature.Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene.DPYD genotype-guided dose individualization to improve patient safety of fluoropyrimidine therapy: call for a drug label update.DPYD*2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer.Hydrogel microarray for detection of polymorphisms in the UGT1A1, DPYD, GSTP1 and ABCB1 genes.Fluoropyrimidine toxicity in patients with dihydropyrimidine dehydrogenase splice site variant: the need for further revision of dose and schedule.Genotype frequencies of drug-metabolizing enzymes responsible for purine and pyrimidine antagonists in a healthy Asian-Indian population.
P2860
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P2860
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency
description
1996 nî lūn-bûn
@nan
1996 թուականին հրատարակուած գիտական յօդուած
@hyw
1996 թվականին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A point mutation in an invaria ...... idine dehydrogenase deficiency
@ast
A point mutation in an invaria ...... idine dehydrogenase deficiency
@en
A point mutation in an invaria ...... idine dehydrogenase deficiency
@nl
type
label
A point mutation in an invaria ...... idine dehydrogenase deficiency
@ast
A point mutation in an invaria ...... idine dehydrogenase deficiency
@en
A point mutation in an invaria ...... idine dehydrogenase deficiency
@nl
prefLabel
A point mutation in an invaria ...... idine dehydrogenase deficiency
@ast
A point mutation in an invaria ...... idine dehydrogenase deficiency
@en
A point mutation in an invaria ...... idine dehydrogenase deficiency
@nl
P2093
P356
P1476
A point mutation in an invaria ...... idine dehydrogenase deficiency
@en
P2093
A B Van Kuilenburg
A H van Gennip
H D Bakker
R A De Abreu
P2888
P304
P356
10.1007/BF01799841
P407
P577
1996-01-01T00:00:00Z
P5875
P6179
1039869088