3A, TPMT 2): Mechanisms for the Genetic Polymorphism of TPMT Activity (original ) (raw )A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase
John Schuetz
Proceedings of the National Academy of Sciences, 1995
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Thiopurine S-methyltransferase pharmacogenetics: Functional characterization of a novel rapidly degraded variant allozyme
Wichittra Tassaneeyakul
Biochemical Pharmacology, 2010
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In vitro characterization of four novel non-functional variants of the thiopurine S-methyltransferase
Jean-Luc Gala
Biochemical and Biophysical Research Communications, 2003
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Heterozygosity at the TPMT gene locus, augmented by mutated MTHFR gene, predisposes to 6-MP related toxicities in childhood ALL patients
Irena Mlinaric-rascan , Janez Jazbec
Leukemia, 2009
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Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene, TPMT*16 and TPMT*19
Jean-Luc Gala
Biochemical Pharmacology, 2005
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Thiopurine S-methyltransferase (TPMT) pharmacogenetics: variant allele functional genomics
Oreste Salavaggione
Clinical Pharmacology & Therapeutics, 2004
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In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8
Annica Blissing
ACS Omega, 2017
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Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population
Riin Tamm , Maido Remm
Clinical Chemistry and Laboratory Medicine, 2000
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A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL
M. Eichelbaum
Leukemia, 2003
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Human thiopurine S-methyltransferase pharmacogenetics: Variant allozyme misfolding and aggresome formation
richard alvarado
Proceedings of The National Academy of Sciences, 2005
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Very important pharmacogene summary: thiopurine S-methyltransferase
Richard Weinshilboum
Pharmacogenetics and Genomics, 2010
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A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics
Tiratha Singh
Scientific Reports
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High-Resolution Melting Analysis of the TPMT Gene: A Study in the Polish Population
Agnieszka Dobrowolska-zachwieja , Pawel Borun , Ryszard Slomski , Marzena Skrzypczak-zielinska
Genetic Testing and Molecular Biomarkers, 2013
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Frequency of Thiopurine S-Methyltransferase (TPMT) Alleles in Southeast Iranian Population
Behzad Shariati
Nucleosides Nucleotides & Nucleic Acids, 2010
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Whole-blood thiopurine S-methyltransferase activity with genotype concordance: a new, simplified phenotyping assay
Valerie Graham
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2006
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Thiopurine methyltransferase isozymes in human renal tissue
Jon A Van Loon
PubMed, 1990
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Thiopurine S-methyltransferase alleles, TPMT(*)2, (*)3B and (*)3C, and genotype frequencies in an Indian population
Murugesan Raju
Experimental and therapeutic medicine, 2010
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Characterization of a novel TPMT mutation associated with azathioprine-induced myelosuppression
Bénédicte Pigneur
British Journal of Clinical Pharmacology, 2009
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Thiopurine S-methyltransferase phenotype-genotype correlation in children with acute lymphoblastic leukemia
Mateusz Kurzawski
Acta poloniae pharmaceutica
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Human thiopurine methyltransferase pharmacogenetics: Gene sequence polymorphisms*
Richard Weinshilboum
Clinical Pharmacology & Therapeutics, 1997
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Thiopurine methyltransferase: mouse kidney and liver assay conditions, biochemical properties and strain variation
Richard Weinshilboum
Biochemical Pharmacology, 1985
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Genotyping should be considered the primary choice for pre-treatment evaluation of thiopurine methyltransferase function
Ulf Hindorf
Journal of Crohn's and Colitis, 2012
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Phenotype and genotype for thiopurine methyltransferase activity in the French Caucasian population: impact of age
Alain Pineau , Michel Bourin
European Journal of Clinical Pharmacology, 2004
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A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations
Maher Gandhi
British Journal of Haematology, 2000
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Mercaptopurine Therapy Intolerance and Heterozygosity at the Thiopurine S-Methyltransferase Gene Locus
Raul Ribeiro
Journal of The National Cancer Institute, 1999
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Structural basis of allele variation of human thiopurine-S-methyltransferase
Alexey Bochkarev
Proteins: Structure, Function, and Bioinformatics, 2007
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Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity …
Vijaykumar Gundeti
European journal of …, 2012
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Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity
Richard Weinshilboum
Journal of Clinical Investigation, 1998
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