(Q34134768)

English

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

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author name string

André B P van Kuilenburg

1

1 reference

Europe PubMed Central

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31 July 2017

Judith Meijer

2

1 reference

Europe PubMed Central

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31 July 2017

Adri N P M Mul

3

1 reference

Europe PubMed Central

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31 July 2017

Rutger Meinsma

4

1 reference

Europe PubMed Central

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31 July 2017

Veronika Schmid

5

1 reference

Europe PubMed Central

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31 July 2017

Doreen Dobritzsch

6

1 reference

Europe PubMed Central

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31 July 2017

Raoul C M Hennekam

7

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Marcel M A M Mannens

8

1 reference

Europe PubMed Central

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31 July 2017

Marion Kiechle

9

1 reference

Europe PubMed Central

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31 July 2017

Marie-Christine Etienne-Grimaldi

10

1 reference

Europe PubMed Central

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31 July 2017

Heinz-Josef Klümpen

11

1 reference

Europe PubMed Central

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31 July 2017

Jan Gerard Maring

12

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Veerle A Derleyn

13

1 reference

Europe PubMed Central

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31 July 2017

Ed Maartense

14

1 reference

Europe PubMed Central

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31 July 2017

Gérard Milano

15

1 reference

Europe PubMed Central

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31 July 2017

Raymon Vijzelaar

16

1 reference

Europe PubMed Central

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31 July 2017

Eva Gross

17

1 reference

Europe PubMed Central

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31 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

29 August 2010

1 reference

Europe PubMed Central

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31 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

128

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Europe PubMed Central

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31 July 2017

5

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31 July 2017

529-538

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Europe PubMed Central

PubMed publication ID

31 July 2017

https://scigraph.springernature.com/pub.10.1007/s00439-010-0879-3

0 references

Features and development of Coot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemothera

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Capecitabine as adjuvant treatment for stage III colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Systemic therapy for colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Genomic variants in exons and introns: identifying the splicing spoilers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Crystal structure of dihydropyrimidine dehydrogenase, a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

5 July 2018

Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

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).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2955237

28 October 2018

Characterization of the human dihydropyrimidine dehydrogenase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variations and haplotype structures of the DPYD gene encoding dihydropyrimidine dehydrogenase in Japanese and their ethnic differences

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Known variant DPYD alleles do not explain DPD deficiency in cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20803296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-010-0879-3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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