Associated Papers
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.
Saxena S et al.
Scientific Reports, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.
Chansavang A et al.
Pharmacogenomics, 2020
Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT.
Harmand PO et al.
Genes, 2020
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
Structural and functional impact of missense mutations in TPMT: An integrated computational approach.
Fazel-Najafabadi E et al.
Computational Biology and Chemistry, 2015
Complete sequence-based screening of TPMT variants in the Korean population.
Kim HY et al.
Pharmacogenetics and Genomics, 2015
Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants.
Beránek M et al.
Folia Biologica, 2015
Nomenclature for alleles of the thiopurine methyltransferase gene.
Appell ML et al.
Pharmacogenetics and Genomics, 2013
Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.
Hao D et al.
Science China. Life Sciences, 2010
Thiopurine S-methyltransferase alleles, TPMT(*)2, (*)3B and (*)3C, and genotype frequencies in an Indian population.
Murugesan R et al.
Experimental and Therapeutic Medicine, 2010
Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALD-TOF mass spectrometry: reliable genotyping in different ethnic groups.
Schaeffeler E et al.
Clinical Chemistry, 2008
Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT*2 - *24).
Ujiie S et al.
Pharmacogenetics and Genomics, 2008
Clinical pharmacology and pharmacogenetics of thiopurines.
Sahasranaman S et al.
European Journal of Clinical Pharmacology, 2008
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.
Schaeffeler E et al.
Human Mutation, 2006
Genetic polymorphisms of drug-metabolising enzymes and drug transporters in the chemotherapeutic treatment of cancer.
Bosch TM et al.
Clinical Pharmacokinetics, 2006
Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics.
Salavaggione OE et al.
Pharmacogenetics and Genomics, 2005
Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene, TPMT*16 and TPMT*19.
Hamdan-Khalil R et al.
Biochemical Pharmacology, 2005
Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.
Schaeffeler E et al.
Pharmacogenetics, 2004
[Relationship between single nucleotide polymorphisms in thiopurine methyltransferase gene and tolerance to thiopurines in acute leukemia].
Ma XL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
Insights into S-adenosyl-l-methionine (SAM)-dependent methyltransferase related diseases and genetic polymorphisms.
Li J et al.
Mutation Research. Reviews in Mutation Research, 0