Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.H227Q
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TPMT

NM_000367.5:p.H227Q

Associated Papers

Role of Genetic Polymorphisms in Drug-Metabolizing Enzyme-Mediated Toxicity and Pharmacokinetic Resistance to Anti-Cancer Agents: A Review on the Pharmacogenomics Aspect.

Narendra G et al.

Clinical Pharmacokinetics, 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

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

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

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

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

Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics.

Rutherford K et al.

Journal of Molecular Biology, 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

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

Genetic determinants of cancer drug efficacy and toxicity: practical considerations and perspectives.

Candelaria M et al.

Anti-cancer Drugs, 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

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography.

Udaka T 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

Thiopurine S-methyltransferase polymorphisms: efficient screening method for patients considering taking thiopurine drugs.

Wusk B et al.

European Journal of Clinical Pharmacology, 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

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

Genetic polymorphism of thiopurine S-methyltransferase in Argentina.

Laróvere LE et al.

Annals of Clinical Biochemistry, 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

Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia.

McLeod HL et al.

Leukemia, 2000

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

Alves S et al.

Human Mutation, 2000

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

Krynetski EY et al.

Pharmaceutical Research, 1999

Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population.

Spire-Vayron de la Moureyre C et al.

British Journal of Pharmacology, 1998

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."