Associated Papers
Calcifying pseudoneoplasm of the neuraxis progressing to G5/PDGFRA subgroup glioblastoma in a United States Army veteran with a history of head trauma and germline POT1 and EPHB2 mutations: illustrative case.
Georgescu MM et al.
Journal of Neurosurgery. Case Lessons, 2025
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
Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.
Chansavang A et al.
Pharmacogenomics, 2020
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc
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
Characterisation of novel defective thiopurine S-methyltransferase allelic variants.
Garat A et al.
Biochemical Pharmacology, 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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