Varaico: Literature-Extracted Genetic Variants

Gene:ABCC4
Variant:p.E757K
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ABCC4

NM_005845.5:p.E757K

Associated Papers

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

Hamdani S et al.

Frontiers in Genetics, 2025

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Single-Nucleotide Polymorphisms, c.415C > T (Arg139Cys) and c.416G > A (Arg139His), in the NUDT15 Gene Are Associated with Thiopurine-Induced Leukopenia.

Isono T et al.

Biological & Pharmaceutical Bulletin, 2023

In-vitro characterization of coding variants with predicted functional implications in the efflux transporter multidrug resistance protein 4 (MRP4, ABCC4).

Mailloux J et al.

Pharmacogenetics and Genomics, 2022

Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Matsumoto H et al.

Molecular Genetics & Genomic Medicine, 2022

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

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

Understanding thiopurine methyltransferase polymorphisms for the targeted treatment of hematologic malignancies.

Franca R et al.

Expert Opinion on Drug Metabolism & Toxicology, 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

Genetic and clinical determinants of mizoribine pharmacokinetics in renal transplant recipients.

Dai R et al.

European Journal of Clinical Pharmacology, 2021

Homozygous of MRP4 Gene rs1751034 C Allele Is Related to Increased Risk of Intravenous Immunoglobulin Resistance in Kawasaki Disease.

Wang Y et al.

Frontiers in Genetics, 2021

NUDT15 c.415C>T Polymorphism Predicts 6-MP Induced Early Myelotoxicity in Patients with Acute Lymphoblastic Leukemia Undergoing Maintenance Therapy.

Pai AA et al.

Pharmacogenomics and Personalized Medicine, 2021

Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.

Maillard M et al.

Cancers, 2020

33291741 (PubMed )
Supplement: cancers-12-03647-s001.pdf

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series.

Devasia AJ et al.

Drug Metabolism and Personalized Therapy, 2020

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.

Azouzi S et al.

Blood, 2020

Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine.

Chamnanphon M et al.

Pharmacogenomics and Personalized Medicine, 2020

A Human ABC Transporter ABCC4 Gene SNP (rs11568658, 559 G > T, G187W) Reduces ABCC4-Dependent Drug Resistance.

Tsukamoto M et al.

Cells, 2019

ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

López-Fernández LA

Journal of Personalized Medicine, 2018

30563187 (PubMed )
Supplement: jpm-08-00040-s001.xlsx › Hoja1

NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.

Kakuta Y et al.

Journal of Gastroenterology, 2018

SLCO1B1 Polymorphisms are Associated With Drug Intolerance in Childhood Leukemia Maintenance Therapy.

Eldem İ et al.

Journal of Pediatric Hematology/oncology, 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

Quantitative Evaluation of Drug Resistance Profile of Cells Expressing Wild-Type or Genetic Polymorphic Variants of the Human ABC Transporter ABCC4.

Tsukamoto M et al.

International Journal of Molecular Sciences, 2017

Effect of genetic polymorphisms of azathioprine-metabolizing enzymes on response to rheumatoid arthritis treatment.

Tsuchiya A et al.

Die Pharmazie, 2017

Polymorphic variants of MRP4/ABCC4 differentially modulate the transport of methylated arsenic metabolites and physiological organic anions.

Banerjee M et al.

Biochemical Pharmacology, 2016

NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease.

Asada A et al.

Journal of Gastroenterology, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Susceptibility to 6-MP toxicity conferred by a NUDT15 variant in Japanese children with acute lymphoblastic leukaemia.

Tanaka Y et al.

British Journal of Haematology, 2015

Multidrug resistance protein 4 (MRP4) polymorphisms impact the 6-mercaptopurine dose tolerance during maintenance therapy in Japanese childhood acute lymphoblastic leukemia.

Tanaka Y et al.

The Pharmacogenomics Journal, 2015

Influence of SLCO1B1 polymorphism on maintenance therapy for childhood leukemia.

Suzuki R et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

Korean, Japanese, and Chinese populations featured similar genes encoding drug-metabolizing enzymes and transporters: a DMET Plus microarray assessment.

Yi S et al.

Pharmacogenetics and Genomics, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Effect of genetic polymorphisms on effectiveness of low-dose azathioprine in Japanese patients with systemic lupus erythematosus.

Nagamine A et al.

American Journal of Health-system Pharmacy : Ajhp : Official Journal of the American Society of Health-system Pharmacists, 2012

[Genetic factors affecting elevated thiopurine sensitivity in Japanese patients with inflammatory bowel disease].

Andoh A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012

Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts.

Nakagawa H et al.

Journal of Pharmaceutical Sciences, 2011

Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease.

Osaki R et al.

Experimental and Therapeutic Medicine, 2011

Effect of genetic polymorphisms of SLC28A1, ABCG2, and ABCC4 on bioavailability of mizoribine in healthy Japanese males.

Fukao M et al.

Drug Metabolism and Pharmacokinetics, 2011

The multidrug-resistance protein 4 polymorphism is a new factor accounting for thiopurine sensitivity in Japanese patients with inflammatory bowel disease.

Ban H et al.

Journal of Gastroenterology, 2010

Transporter-mediated protection against thiopurine-induced hematopoietic toxicity.

Krishnamurthy P et al.

Cancer Research, 2008

6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.

Janke D et al.

Human Mutation, 2008

Variability in human hepatic MRP4 expression: influence of cholestasis and genotype.

Gradhand U et al.

The Pharmacogenomics Journal, 2008

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

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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."