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

作者信息

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

机构信息

Academic Medical Center, University of Amsterdam, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):276-9. doi: 10.1023/a:1005380525218.

DOI:10.1023/a:1005380525218
PMID:9686374
Abstract
摘要

相似文献

1
Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli.
J Inherit Metab Dis. 1998 Jun;21(3):276-9. doi: 10.1023/a:1005380525218.
2
Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli.二氢嘧啶脱氢酶缺乏症。两种新突变的鉴定及错义突变在大肠杆菌中的表达。
Adv Exp Med Biol. 1998;431:341-6.
3
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.二氢嘧啶脱氢酶（DPD）缺乏症：错义突变C29R、R886H和R235W的鉴定与表达
Hum Genet. 1997 Dec;101(3):333-8. doi: 10.1007/s004390050637.
4
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.
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5
Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.二氢嘧啶脱氢酶（DPD）缺乏症：DPD基因中的新突变
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6
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.通过三维蛋白质结构分析解释二氢嘧啶脱氢酶基因中的新型致病突变。
Biochem J. 2002 May 15;364(Pt 1):157-63. doi: 10.1042/bj3640157.
7
Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.
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Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.一名患有胸腺嘧啶-尿嘧啶尿症的新生儿二氢嘧啶脱氢酶缺乏症的诊断。
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9
[Dihydropyrimidine dehydrogenase deficiency].[二氢嘧啶脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):490-3.
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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.二氢嘧啶脱氢酶缺乏症患者的基因型与表型
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1
Germline pharmacogenomics of DPYD*9A (c.85T>C) variant in patients with gastrointestinal malignancies treated with fluoropyrimidines.胃肠道恶性肿瘤患者中携带DPYD*9A（c.85T>C）变异的生殖系药物基因组学，这些患者接受氟嘧啶治疗。
J Gastrointest Oncol. 2018 Jun;9(3):416-424. doi: 10.21037/jgo.2018.02.03.
2
Evaluation of clinical value of single nucleotide polymorphisms of dihydropyrimidine dehydrogenase gene to predict 5-fluorouracil toxicity in 60 colorectal cancer patients in China.评价二氢嘧啶脱氢酶基因单核苷酸多态性对中国 60 例结直肠癌患者氟尿嘧啶毒性的临床价值。
Int J Med Sci. 2013 May 20;10(7):894-902. doi: 10.7150/ijms.5556. Print 2013.
3

本文引用的文献

1
Molecular diagnosis.分子诊断。
Can Fam Physician. 1987 Feb;33:401-4.
2
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.二氢嘧啶脱氢酶（DPD）缺乏症：错义突变C29R、R886H和R235W的鉴定与表达
Hum Genet. 1997 Dec;101(3):333-8. doi: 10.1007/s004390050637.
3
Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.
J Inherit Metab Dis. 1997 Jul;20(3):335-8. doi: 10.1023/a:1005357307122.
Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.
采用实时细胞分析和体外酶活性测定对与 5-氟尿嘧啶敏感性相关的 DPYD 变异进行表型谱分析。
Cancer Res. 2013 Mar 15;73(6):1958-68. doi: 10.1158/0008-5472.CAN-12-3858. Epub 2013 Jan 17.
4
How may anticancer chemotherapy with fluorouracil be individualised?氟尿嘧啶的抗癌化疗如何实现个体化？
Clin Pharmacokinet. 2006;45(6):567-92. doi: 10.2165/00003088-200645060-00002.
5
Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-Fluorouracil.日本人群中二氢嘧啶脱氢酶基因的种系突变与5-氟尿嘧啶毒性的关系
Jpn J Cancer Res. 2001 Mar;92(3):337-42. doi: 10.1111/j.1349-7006.2001.tb01100.x.
4
Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression.
Hum Genet. 1997 Aug;100(2):263-5. doi: 10.1007/s004390050502.
5
Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.嘧啶降解的先天性代谢缺陷：临床、生化及分子学方面
J Inherit Metab Dis. 1997 Jun;20(2):203-13. doi: 10.1023/a:1005356806329.
6
Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.在一个巴基斯坦裔家族中，多态性表达的二氢嘧啶脱氢酶的表型与基因型之间缺乏相关性。
Pharmacogenetics. 1997 Apr;7(2):161-3. doi: 10.1097/00008571-199704000-00012.
7
Structural organization of the human dihydropyrimidine dehydrogenase gene.人类二氢嘧啶脱氢酶基因的结构组织
Cancer Res. 1997 May 1;57(9):1660-3.
8
Mutations at codon 974 of the DPYD gene are a rare event.DPYD基因第974位密码子的突变是罕见事件。
Br J Cancer. 1997;75(2):178-9. doi: 10.1038/bjc.1997.29.
9
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.在两名患有二氢嘧啶脱氢酶缺乏症的不相关荷兰患者中，一个不变剪接供体位点的点突变导致外显子跳跃。
J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841.
10
Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.
Anticancer Res. 1996 Jan-Feb;16(1):389-94.