Literature DB >> 9266349

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

P Vreken1, A B Van Kuilenburg, R Meinsma, A H van Gennip.   

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Year:  1997        PMID： 9266349     DOI： 10.1023/a:1005357307122

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


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  12 in total

1.  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

Review 2.  mRNA stability in mammalian cells.

Authors:  J Ross
Journal:  Microbiol Rev       Date:  1995-09

3.  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

4.  cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria.

Authors:  H Yokota; P Fernandez-Salguero; H Furuya; K Lin; O W McBride; B Podschun; K D Schnackerz; F J Gonzalez
Journal:  J Biol Chem       Date:  1994-09-16       Impact factor: 5.157

5.  Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

Authors:  R Berger; S A Stoker-de Vries; S K Wadman; M Duran; F A Beemer; P K de Bree; J J Weits-Binnerts; T J Penders; J K van der Woude
Journal:  Clin Chim Acta       Date:  1984-08-31       Impact factor: 3.786

6.  Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

Authors:  J Cheng; L E Maquat
Journal:  Mol Cell Biol       Date:  1993-03       Impact factor: 4.272

7.  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

8.  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

9.  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

10.  Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.

Authors:  A B Van Kuilenburg; H Van Lenthe; A H Van Gennip
Journal:  Anticancer Res       Date:  1996 Jan-Feb       Impact factor: 2.480
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  16 in total

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

Authors:  P Vreken; A B van Kuilenburg; R Meinsma; F A Beemer; M Duran; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 2.  Pharmacogenetics and diseases of the colon.

Authors:  Irfan M Hisamuddin; Mohammad A Wehbi; Vincent W Yang
Journal:  Curr Opin Gastroenterol       Date:  2007-01       Impact factor: 3.287

3.  Allele and genotype frequencies of polymorphic cytochromes P450 (CYP2C9, CYP2C19, CYP2E1) and dihydropyrimidine dehydrogenase (DPYD) in the Egyptian population.

Authors:  Samar Ismail Hamdy; Masahiro Hiratsuka; Kaori Narahara; Mervat El-Enany; Nadia Moursi; Mohammed Salah-Eldin Ahmed; Michinao Mizugaki
Journal:  Br J Clin Pharmacol       Date:  2002-06       Impact factor: 4.335

Review 4.  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

5.  Novel Deleterious Dihydropyrimidine Dehydrogenase Variants May Contribute to 5-Fluorouracil Sensitivity in an East African Population.

Authors:  T Elraiyah; C R Jerde; S Shrestha; R Wu; Q Nie; N H Giama; V Sarangi; L R Roberts; S M Offer; R B Diasio
Journal:  Clin Pharmacol Ther       Date:  2016-11-26       Impact factor: 6.875

6.  Genetic Variations of the DPYD Gene and Its Relationship with Ancestry Proportions in Different Ecuadorian Trihybrid Populations.

Authors:  Camila Farinango; Jennifer Gallardo-Cóndor; Byron Freire-Paspuel; Rodrigo Flores-Espinoza; Gabriela Jaramillo-Koupermann; Andrés López-Cortés; Germán Burgos; Eduardo Tejera; Alejandro Cabrera-Andrade
Journal:  J Pers Med       Date:  2022-06-10

7.  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

8.  Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects.

Authors:  S A Ridge; J Sludden; O Brown; L Robertson; X Wei; A Sapone; P M Fernandez-Salguero; F J Gonzalez; P Vreken; A B van Kuilenburg; A H van Gennip; H L McLeod
Journal:  Br J Clin Pharmacol       Date:  1998-08       Impact factor: 4.335

9.  Fluoropyrimidine toxicity in patients with dihydropyrimidine dehydrogenase splice site variant: the need for further revision of dose and schedule.

Authors:  Elena Magnani; Enrico Farnetti; Davide Nicoli; Bruno Casali; Luisa Savoldi; Chiara Focaccetti; Corrado Boni; Adriana Albini; Maria Banzi
Journal:  Intern Emerg Med       Date:  2013-04-13       Impact factor: 3.397

10.  Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity.

Authors:  Seid Hamzic; Dominic Schärer; Steven M Offer; Didier Meulendijks; Christos Nakas; Robert B Diasio; Stefano Fontana; Marc Wehrli; Stefan Schürch; Ursula Amstutz; Carlo R Largiadèr
Journal:  Br J Clin Pharmacol       Date:  2021-03-30       Impact factor: 4.335
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