Associated Papers
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
Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT.
Harmand PO et al.
Genes, 2020
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
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
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
Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics.
Salavaggione OE et al.
Pharmacogenetics and Genomics, 2005
Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography.
Udaka T et al.
Genetic Testing, 2005
Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity.
Lindqvist M et al.
Pharmacogenetics, 2004
Pyrosequencing of TPMT alleles in a general Swedish population and in patients with inflammatory bowel disease.
Haglund S et al.
Clinical Chemistry, 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
In vitro characterization of four novel non-functional variants of the thiopurine S-methyltransferase.
Hamdan-Khalil R et al.
Biochemical and Biophysical Research Communications, 2003
Recent advances in the pharmacogenomics of thiopurine methyltransferase.
Coulthard SA et al.
The Pharmacogenomics Journal, 2001
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