| The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity. | The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity.
De Mattia E, Polesel J, Silvestri M, Roncato R, Scarabel L, Calza S, Spina M, Puglisi F, Toffoli G, Cecchin E., Free PMC Article | 11/15/2023 |
| Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity. | Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity.
Hishinuma E, Narita Y, Rico EMG, Ueda A, Obuchi K, Tanaka Y, Saito S, Tadaka S, Kinoshita K, Maekawa M, Mano N, Nakayoshi T, Oda A, Hirasawa N, Hiratsuka M. | 02/4/2023 |
| This study defines dihydropyrimidines as potentially cytotoxic metabolites that may offer an opportunity for therapeutic-targeting of dihydropyrimidinase activity in solid tumors. | Dihydropyrimidinase protects from DNA replication stress caused by cytotoxic metabolites.
Basbous J, Aze A, Chaloin L, Lebdy R, Hodroj D, Ribeyre C, Larroque M, Shepard C, Kim B, Pruvost A, Moreaux J, Maiorano D, Mechali M, Constantinou A., Free PMC Article | 03/21/2020 |
| 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy. Analysis of the DHP gene (DPYS) showed the presence of 8 variants including 4 novel/rare missense variants and one novel deletion. | Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, van Kuilenburg ABP. | 09/1/2018 |
| Two unrelated pediatric DPYS deficiency cases are being described as compound heterozygotes for a novel intronic mutation c.1443+5G>A in intron 8 and a previously described missense mutation c.1001A>G (p.Q334R) in exon 6. | Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
Nakajima Y, Meijer J, Zhang C, Wang X, Kondo T, Ito T, Dobritzsch D, Van Kuilenburg AB., Free PMC Article | 10/22/2016 |
| Stepwise Cox regression modelling suggested that the methylation of genes HSPB1, CCND2 and DPYS contributed objective prognostic information to Gleason score and PSA with respect to prostate cancer-related death. | DNA methylation gene-based models indicating independent poor outcome in prostate cancer.
Vasiljević N, Ahmad AS, Thorat MA, Fisher G, Berney DM, Møller H, Foster CS, Cuzick J, Lorincz AT., Free PMC Article | 06/6/2015 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.
Kim HY, Cho S, Yu J, Sung S, Kim H. | 09/15/2010 |
| The p.S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP patients, indicating that DHP deficiency may be more common than anticipated. | Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC. | 08/16/2010 |
| Results indicate that missense and nonsense variants in DPYS are infrequent, however, the development of serious primarily gastrointestinal toxicity could be influenced by non-coding DPYS sequence variants c.-1T>C and IVS1-58T>C. | Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.
Fidlerova J, Kleiblova P, Bilek M, Kormunda S, Formankova Z, Novotny J, Kleibl Z, Fidlerova J, Kleiblova P, Bilek M, Kormunda S, Formankova Z, Novotny J, Kleibl Z. | 02/8/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.
Fidlerova J, Kleiblova P, Bilek M, Kormunda S, Formankova Z, Novotny J, Kleibl Z, Fidlerova J, Kleiblova P, Bilek M, Kormunda S, Formankova Z, Novotny J, Kleibl Z. | 08/12/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism.
Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB, Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB. | 03/13/2008 |
| data presented in this study offers evidence for the possible genetic regulation of the DPYS gene and its possible influence on uracil catabolic pathway | Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism.
Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB, Thomas HR, Ezzeldin HH, Guarcello V, Mattison LK, Fridley BL, Diasio RB. | 01/21/2010 |
| clinical, biochemical & genetic findings of two newly identified patients with a complete DHP deficiency; both patients were compound heterozygous for the missense mutation 1078T>C (W360R) in exon 6 and a novel missense mutation 1235G>T (R412M) in exon 7 | Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.
van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM. | 01/21/2010 |