Associated Papers
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
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
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
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
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc
In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8.
Wennerstrand P et al.
Acs Omega, 2017
Structural and functional impact of missense mutations in TPMT: An integrated computational approach.
Fazel-Najafabadi E et al.
Computational Biology and Chemistry, 2015
Nomenclature for alleles of the thiopurine methyltransferase gene.
Appell ML et al.
Pharmacogenetics and Genomics, 2013
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
Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics.
Rutherford K et al.
Journal of Molecular Biology, 2008
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.
Schaeffeler E et al.
Human Mutation, 2006
[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
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