Very important pharmacogene summary: thiopurine S-methyltransferase.
作者信息
Wang Liewei, Pelleymounter Linda, Weinshilboum Richard, Johnson Julie A, Hebert Joan M, Altman Russ B, Klein Teri E
机构信息
Mayo Clinic, Rochester, Minnesota, USA.
出版信息
Pharmacogenet Genomics. 2010 Jun;20(6):401-5. doi: 10.1097/FPC.0b013e3283352860.
Abstract
摘要
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Pharmacogenet Genomics. 2008 Dec;18(12):1083-94. doi: 10.1097/FPC.0b013e328313e03f.
2
Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT*2 - *24).硫嘌呤甲基转移酶基因（TPMT*2 - *24）23个等位基因变体的功能特性
Pharmacogenet Genomics. 2008 Oct;18(10):887-93. doi: 10.1097/FPC.0b013e3283097328.
3
Characterisation of novel defective thiopurine S-methyltransferase allelic variants.新型缺陷型硫嘌呤甲基转移酶等位基因变异体的特征分析
Biochem Pharmacol. 2008 Aug 1;76(3):404-15. doi: 10.1016/j.bcp.2008.05.009. Epub 2008 May 18.
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Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity.具有超高酶活性患者的硫嘌呤 S-甲基转移酶基因启动子中的三核苷酸重复变异体。
Pharmacogenet Genomics. 2008 May;18(5):434-8. doi: 10.1097/FPC.0b013e3282f85e47.
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Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23.通过对TPMT*3A进行单倍型分析并鉴定一种新的序列变异体TPMT*23来解释TPMT基因型/表型差异
Pharmacogenet Genomics. 2007 Oct;17(10):891-5. doi: 10.1097/FPC.0b013e3282ef642b.
6
Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique.撒哈拉以南人群硫嘌呤S-甲基转移酶基因座多态性的分布模式是否需要修正？来自卡宾达和莫桑比克的提示。
Eur J Clin Pharmacol. 2007 Jul;63(7):703-6. doi: 10.1007/s00228-007-0310-8. Epub 2007 May 1.
7
Three novel single nucleotide polymorphisms of the human thiopurine S-methyltransferase gene in Japanese individuals.日本人群中人类硫嘌呤 S-甲基转移酶基因的三种新型单核苷酸多态性。
Drug Metab Pharmacokinet. 2006 Aug;21(4):332-6. doi: 10.2133/dmpk.21.332.
8
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.三种新型硫嘌呤甲基转移酶等位基因变体（TPMT*20、*21、*22）——与酶功能降低相关。
Hum Mutat. 2006 Sep;27(9):976. doi: 10.1002/humu.9450.
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Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics.硫嘌呤S-甲基转移酶药物遗传学：变异等位基因的功能与比较基因组学
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Proc Natl Acad Sci U S A. 2005 Jun 28;102(26):9394-9. doi: 10.1073/pnas.0502352102. Epub 2005 Jun 20.
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