Varaico: Literature-Extracted Genetic Variants

Gene:ITPA
Variant:p.L42Splc
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ITPA

NM_033453.4:p.L42Splc

Associated Papers

Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo.

Pasha F et al.

Human Genome Variation, 2026

Gene polymorphisms associated with immunosuppressant adverse effects in systemic lupus erythematosus: a narrative review.

Hamdani S et al.

Frontiers in Genetics, 2025

Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients.

Salazar J et al.

The Pharmacogenomics Journal, 2024

Effects of genetic and clinical factors on thiopurine drugs pharmacokinetics in Tunisian patients.

Chadli Z et al.

Pharmacogenomics, 2024

Impact of Mercaptopurine Metabolites on Disease Outcome in the AIEOP-BFM ALL 2009 Protocol for Acute Lymphoblastic Leukemia.

Franca R et al.

Clinical Pharmacology and Therapeutics, 2023

Role of Pharmacogenomics in the Efficacy and Safety of Thiopurines in Inflammatory Bowel Disease: A Systematic Review and Meta-analysis.

Gutiérrez-Valencia M et al.

Journal of Clinical Gastroenterology, 2023

Genetic variants found in paediatric oncology patients with severe chemotherapy-induced toxicity: A case series.

Bernsen EC et al.

Journal of Oncology Pharmacy Practice : Official Publication of the International Society of Oncology Pharmacy Practitioners, 2023

ITPA Polymorphisms and the Incidence of Toxicities in Children with Acute Lymphoblastic Leukemia.

Svasdisant P et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2023

ABCC4, ITPA, NUDT15, TPMT and their interaction as genetic predictors of 6-mercaptopurine intolerance in chinese patients with acute lymphoblastic leukemia.

Fan POL et al.

Pediatric Hematology and Oncology, 2022

Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis.

Barba E et al.

The Pharmacogenomics Journal, 2022

Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.

Zamzami MA

Cells, 2022

Optimizing thiopurine therapy in children with acute lymphoblastic leukemia: A promising "MINT" sequencing strategy and therapeutic "DNA-TG" monitoring.

Guo HL et al.

Frontiers in Pharmacology, 2022

Immune-Related Gene Polymorphisms and Pharmacogenetic Studies in Nephrology.

Tziastoudi M et al.

Clinical Therapeutics, 2021

TPMT*3C as a Predictor of 6-Mercaptopurine-Induced Myelotoxicity in Thai Children with Acute Lymphoblastic Leukemia.

Jantararoungtong T et al.

Journal of Personalized Medicine, 2021

The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia.

Lee JM et al.

Children (basel, Switzerland), 2021

Association Between Genetic Polymorphisms of Metabolic Enzymes and Azathioprine-Induced Myelosuppression in 1,419 Chinese Patients: A Retrospective Study.

Chen ZY et al.

Frontiers in Pharmacology, 2021

Implementation of Pharmacogenetics to Individualize Treatment Regimens for Children with Acute Lymphoblastic Leukemia.

Maamari D et al.

Pharmacogenomics and Personalized Medicine, 2020

Pharmacogenomics and Pharmacogenetics: In Silico Prediction of Drug Effects in Treatments for Novel Coronavirus SARS-CoV2 Disease.

Cafiero C et al.

Pharmacogenomics and Personalized Medicine, 2020

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.

Tanaka Y et al.

Therapeutic Drug Monitoring, 2019

ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia.

Moradveisi B et al.

Frontiers in Pharmacology, 2019

Distribution of Genetic Polymorphisms of Genes Implicated in Thiopurine Drugs Metabolism.

Chadli Z et al.

Therapeutic Drug Monitoring, 2018

Induction of inosine triphosphatase activity during ribavirin treatment for chronic hepatitis C.

Tanaka Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

Optimal predictor for 6-mercaptopurine intolerance in Chinese children with acute lymphoblastic leukemia: NUDT15, TPMT, or ITPA genetic variants?

Zhou H et al.

Bmc Cancer, 2018

Pharmacogenetics of thiopurines for inflammatory bowel disease in East Asia: prospects for clinical application of NUDT15 genotyping.

Kakuta Y et al.

Journal of Gastroenterology, 2018

Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV.

Peltenburg NC et al.

Plos One, 2018

[Genetic polymorphisms of thiopurine methyltransferase and incidence of adverse events in patients with medical indication of azathioprine].

Buhl MA et al.

Medicina, 2018

Pharmacogenetic Predictors of Treatment-Related Toxicity Among Children With Acute Lymphoblastic Leukemia.

Maxwell RR et al.

Current Hematologic Malignancy Reports, 2017

Pathogenic variants that alter protein code often disrupt splicing.

Soemedi R et al.

Nature Genetics, 2017

28416821 (PubMed )
Supplement: NIHMS861030-supplement-4.pdf

Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Qiu Q et al.

Scientific Reports, 2017

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.

Franca R et al.

The Pharmacogenomics Journal, 2017

A disease spectrum for ITPA variation: advances in biochemical and clinical research.

Burgis NE

Journal of Biomedical Science, 2016

A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs.

Skrzypczak-Zielinska M et al.

Molecular Diagnosis & Therapy, 2016

PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy.

Smid A et al.

Scientific Reports, 2016

Review article: recent advances in pharmacogenetics and pharmacokinetics for safe and effective thiopurine therapy in inflammatory bowel disease.

Moon W et al.

Alimentary Pharmacology & Therapeutics, 2016

Rapidity and Severity of Hemoglobin Decreasing Associated with Erythrocyte Inosine Triphosphatase Activity and ATP Concentration during Chronic Hepatitis C Treatment.

Tanaka Y et al.

Biological & Pharmaceutical Bulletin, 2016

Inosine triphosphate pyrophosphohydrolase activity: more accurate predictor for ribavirin-induced anemia in hepatitis C infected patients than ITPA genotype.

Peltenburg NC et al.

Clinical Chemistry and Laboratory Medicine, 2015

Frequency of ITPA gene polymorphisms in Iranian patients with acute lymphoblastic leukemia and prediction of its myelosuppressive effects.

Azimi F et al.

Leukemia Research, 2015

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Pharmacogenetic considerations for acute lymphoblastic leukemia therapies.

Dulucq S et al.

Expert Opinion on Drug Metabolism & Toxicology, 2014

Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy.

Smid A et al.

Plos One, 2014

Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.

Zamzami MA et al.

Journal of Hematology & Oncology, 2013

Pharmacogenetic determinants of mercaptopurine disposition in children with acute lymphoblastic leukemia.

Adam de Beaumais T et al.

European Journal of Clinical Pharmacology, 2012

The activity of the inosine triphosphate pyrophosphatase affects toxicity of 6-mercaptopurine during maintenance therapy for acute lymphoblastic leukemia in Japanese children.

Tanaka Y et al.

Leukemia Research, 2012

Polymorphism of ITPA 94C>A and risk of adverse effects among patients with acute lymphoblastic leukaemia treated with 6-mercaptopurine.

Wan Rosalina WR et al.

Journal of Clinical Pharmacy and Therapeutics, 2012

Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity in Indian children with acute lymphoblastic leukemia.

Dorababu P et al.

European Journal of Clinical Pharmacology, 2012

Allele frequency of inosine triphosphate pyrophosphatase (ITPA) and thiopurine-S-methyl transferase (TPMT) genes in the Tunisian population.

Melaouhia S et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals.

Bierau J et al.

Plos One, 2012

Population analysis of pharmacogenetic polymorphisms related to acute lymphoblastic leukemia drug treatment.

Chiabai MA et al.

Disease Markers, 2012

The effect of ITPA polymorphisms on the enzyme kinetic properties of human erythrocyte inosine triphosphatase toward its substrates ITP and 6-Thio-ITP.

Bakker JA et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving Azathioprine.

Zabala-Fernández W et al.

Journal of Gastrointestinal and Liver Diseases : Jgld, 2011

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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."