Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.E98*
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TPMT

NM_000367.5:p.E98*

Associated Papers

Pharmacogenomic Assessment of Genes Implicated in Thiopurine Metabolism and Toxicity in a UK Cohort of Pediatric Patients With Inflammatory Bowel Disease.

Coelho T et al.

Inflammatory Bowel Diseases, 2025

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT.

Harmand PO et al.

Genes, 2020

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants.

Beránek M et al.

Folia Biologica, 2015

Identification of a novel thiopurine S-methyltransferase allele (TPMT*37).

Roberts RL et al.

Pharmacogenetics and Genomics, 2014

Nomenclature for alleles of the thiopurine methyltransferase gene.

Appell ML et al.

Pharmacogenetics and Genomics, 2013

A new thiopurine s-methyltransferase haplotype associated with intolerance to azathioprine.

Colleoni L et al.

Journal of Clinical Pharmacology, 2013

TPMT genetic variations in populations of the Russian Federation.

Samochatova EV et al.

Pediatric Blood & Cancer, 2009

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

Clinical pharmacology and pharmacogenetics of thiopurines.

Sahasranaman S et al.

European Journal of Clinical Pharmacology, 2008

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

Genetic analyses of thiopurine methyltransferase polymorphisms in Greenlandic and Danish populations.

Toft N et al.

Acta Paediatrica (oslo, Norway : 1992), 2006

Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique.

Nasedkina TV et al.

European Journal of Human Genetics : Ejhg, 2006

Genetic testing for pharmacogenetics and its clinical application in drug therapy.

Hiratsuka M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics.

Salavaggione OE et al.

Pharmacogenetics and Genomics, 2005

Predicting drug response and toxicity based on gene polymorphisms.

Robert J et al.

Critical Reviews in Oncology/hematology, 2005

Genotyping of thiopurine methyltransferase using pyrosequencing.

Okada Y et al.

Biological & Pharmaceutical Bulletin, 2005

Arrayed primer extension: a robust and reliable genotyping platform for the diagnosis of single gene disorders: beta-thalassemia and thiopurine methyltransferase deficiency.

Lu Y et al.

Genetic Testing, 2005

Pharmacogenetics of inflammatory bowel disease.

Mascheretti S et al.

Best Practice & Research. Clinical Gastroenterology, 2004

Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity.

Lindqvist M et al.

Pharmacogenetics, 2004

A multiplexed allele-specific polymerase chain reaction assay for the detection of common thiopurine S-methyltransferase (TPMT) mutations.

Roberts RL et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2004

Pyrosequencing of TPMT alleles in a general Swedish population and in patients with inflammatory bowel disease.

Haglund S et al.

Clinical Chemistry, 2004

Clinical utility of thiopurine S-methyltransferase genotyping.

Corominas H et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 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

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations.

Chang JG et al.

Pharmacogenetics, 2002

Genetic polymorphisms of thiopurine S-methyltransferase and 6-mercaptopurine toxicity in Japanese children with acute lymphoblastic leukaemia.

Ando M et al.

Pharmacogenetics, 2001

High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC.

Schaeffeler E et al.

Clinical Chemistry, 2001

Recent advances in the pharmacogenomics of thiopurine methyltransferase.

Coulthard SA et al.

The Pharmacogenomics Journal, 2001

Genotyping of eight thiopurine methyltransferase mutations: three-color multiplexing, "two-color/shared" anchor, and fluorescence-quenching hybridization probe assays based on thermodynamic nearest-neighbor probe design.

Schütz E et al.

Clinical Chemistry, 2000

Genetic polymorphism of thiopurine S-methyltransferase: molecular mechanisms and clinical importance.

Krynetski EY et al.

Pharmacology, 2000

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis.

Alves S et al.

Human Mutation, 2000

Inherited variations in drug-metabolizing enzymes: significance in clinical oncology.

Iyer L

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 1999

Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransferase paradigm.

Krynetski EY et al.

Pharmaceutical Research, 1999

Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis.

Spire-Vayron de la Moureyre C et al.

Human Mutation, 1998

Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms.

Otterness D et al.

Clinical Pharmacology and Therapeutics, 1997

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

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