Literature DB >> 9686374

Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli.

P Vreken1, A B van Kuilenburg, R Meinsma, F A Beemer, M Duran, A H van Gennip.   

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Year:  1998        PMID： 9686374     DOI： 10.1023/a:1005380525218

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  16 in total

1.  Structural organization of the human dihydropyrimidine dehydrogenase gene.

Authors:  M R Johnson; K Wang; S Tillmanns; N Albin; R B Diasio
Journal:  Cancer Res       Date:  1997-05-01       Impact factor: 12.701

2.  Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; R A De Abreu; A H Van Gennip
Journal:  Hum Genet       Date:  1997-08       Impact factor: 4.132

3.  Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

Review 4.  Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.

Authors:  A H van Gennip; N G Abeling; P Vreken; A B van Kuilenburg
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

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

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; G P Smit; H D Bakker; R A De Abreu; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  Clinical and biochemical findings in six patients with pyrimidine degradation defects.

Authors:  A H van Gennip; N G Abeling; A E Stroomer; H van Lenthe; H D Bakker
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; A H van Gennip
Journal:  Hum Genet       Date:  1997-12       Impact factor: 4.132

8.  Comparative study of thymine and uracil metabolism in healthy persons and in a patient with dihydropyrimidine dehydrogenase deficiency.

Authors:  A H van Gennip; N G Abeling; L Elzinga-Zoetekouw; L G Scholten; A van Cruchten; H D Bakker
Journal:  Adv Exp Med Biol       Date:  1989       Impact factor: 2.622

9.  Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.

Authors:  R Meinsma; P Fernandez-Salguero; A B Van Kuilenburg; A H Van Gennip; F J Gonzalez
Journal:  DNA Cell Biol       Date:  1995-01       Impact factor: 3.311

10.  Dihydropyrimidine dehydrogenase deficiency. Neurological aspects.

Authors:  J P Braakhekke; W O Renier; F J Gabreëls; R A De Abreu; J A Bakkeren; R C Sengers
Journal:  J Neurol Sci       Date:  1987-03       Impact factor: 3.181
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  5 in total

Review 1.  How may anticancer chemotherapy with fluorouracil be individualised?

Authors:  Su-arpa Ploylearmsaeng; Uwe Fuhr; Alexander Jetter
Journal:  Clin Pharmacokinet       Date:  2006       Impact factor: 6.447

2.  Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.

Authors:  Steven M Offer; Natalie J Wegner; Croix Fossum; Kangsheng Wang; Robert B Diasio
Journal:  Cancer Res       Date:  2013-01-17       Impact factor: 12.701

3.  Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-Fluorouracil.

Authors:  K Yamaguchi; Y Arai; Y Kanda; K Akagi
Journal:  Jpn J Cancer Res       Date:  2001-03

4.  Germline pharmacogenomics of DPYD*9A (c.85T>C) variant in patients with gastrointestinal malignancies treated with fluoropyrimidines.

Authors:  Moh'd Khushman; Girijesh Kumar Patel; Peter Joel Hosein; Javier Ariel Laurini; Daniel Cameron; David Roland Clarkson; Thomas Wayne Butler; Carole Wiseman Norden; Wilma Baliem; Vanessa Jones; Sanjyot Bhadkamkar; Cindy Nelson; Frances Lee; Ajay P Singh; William R Taylor
Journal:  J Gastrointest Oncol       Date:  2018-06

5.  Evaluation of clinical value of single nucleotide polymorphisms of dihydropyrimidine dehydrogenase gene to predict 5-fluorouracil toxicity in 60 colorectal cancer patients in China.

Authors:  Xin Zhang; Butong Sun; Zhenxia Lu
Journal:  Int J Med Sci       Date:  2013-05-20       Impact factor: 3.738
  5 in total

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