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New advances in DPYD genotype and risk of severe toxicity under capecitabine.
Etienne-Grimaldi MC, Boyer JC, Beroud C, Mbatchi L, van Kuilenburg A, Bobin-Dubigeon C, Thomas F, Chatelut E, Merlin JL, Pinguet F, Ferrand C, Meijer J, Evrard A, Llorca L, Romieu G, Follana P, Bachelot T, Chaigneau L, Pivot X, Dieras V, Largillier R, Mousseau M, Goncalves A, Roché H, Bonneterre J, Servent V, Dohollou N, Château Y, Chamorey E, Desvignes JP, Salgado D, Ferrero JM, Milano G. Etienne-Grimaldi MC, et al. Among authors: meijer j. PLoS One. 2017 May 8;12(5):e0175998. doi: 10.1371/journal.pone.0175998. eCollection 2017. PLoS One. 2017. PMID: 28481884 Free PMC article.
Frequent intragenic rearrangements of DPYD in colorectal tumours.
van Kuilenburg AB, Etienne-Grimaldi MC, Mahamat A, Meijer J, Laurent-Puig P, Olschwang S, Gaub MP, Hennekam RC, Benchimol D, Houry S, Letoublon C, Gilly FN, Pezet D, Andre T, Faucheron JL, Abderrahim-Ferkoune A, Vijzelaar R, Pradere B, Milano G. van Kuilenburg AB, et al. Among authors: meijer j. Pharmacogenomics J. 2015 Jun;15(3):211-8. doi: 10.1038/tpj.2014.68. Epub 2014 Oct 28. Pharmacogenomics J. 2015. PMID: 25348620
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.
van Kuilenburg AB, Meijer J, Mul AN, Meinsma R, Schmid V, Dobritzsch D, Hennekam RC, Mannens MM, Kiechle M, Etienne-Grimaldi MC, Klümpen HJ, Maring JG, Derleyn VA, Maartense E, Milano G, Vijzelaar R, Gross E. van Kuilenburg AB, et al. Among authors: meijer j. Hum Genet. 2010 Nov;128(5):529-38. doi: 10.1007/s00439-010-0879-3. Epub 2010 Aug 29. Hum Genet. 2010. PMID: 20803296 Free PMC article.
Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.
Meulendijks D, Henricks LM, van Kuilenburg AB, Jacobs BA, Aliev A, Rozeman L, Meijer J, Beijnen JH, de Graaf H, Cats A, Schellens JH. Meulendijks D, et al. Among authors: meijer j. Cancer Chemother Pharmacol. 2016 Oct;78(4):875-80. doi: 10.1007/s00280-016-3137-0. Epub 2016 Aug 20. Cancer Chemother Pharmacol. 2016. PMID: 27544765
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
van Kuilenburg AB, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RL, Dezentjé V, van Huis-Tanja LH, van Kampen RJ, Hertz JM, Hennekam RC. van Kuilenburg AB, et al. Among authors: meijer j. Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):721-730. doi: 10.1016/j.bbadis.2016.12.010. Epub 2016 Dec 24. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28024938 Free article.
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: meijer j. Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10. Hum Mutat. 2018. PMID: 29691939
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC. van Kuilenburg AB, et al. Among authors: meijer j. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544545
853 results