Associated Papers
A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease.
Urbani G et al.
Scandinavian Journal of Gastroenterology, 2026
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.
Peng Z et al.
Clinical Genetics, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Structural basis for the modulation of MRP2 activity by phosphorylation and drugs.
Mazza T et al.
Nature Communications, 2024
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin-Johnson Syndrome in a Large Case Series From the Arabs.
Al-Hussaini A et al.
Frontiers in Pediatrics, 2021
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2020
Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Corpechot C et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome.
Uchiumi T et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2013
Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
Arlanov R et al.
Human Mutation, 2012
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
The apical conjugate efflux pump ABCC2 (MRP2).
Nies AT et al.
Pflugers Archiv : European Journal of Physiology, 2007
Identification of a novel 974C-->G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids.
Corpechot C et al.
The American Journal of Gastroenterology, 2006
Single nucleotide polymorphisms in ABCC2 and ABCB1 genes and their clinical impact in physiology and drug response.
Wada M
Cancer Letters, 2006
Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.
Conseil G et al.
Pharmacogenetics and Genomics, 2005
Variable expression of MRP2 (ABCC2) in human placenta: influence of gestational age and cellular differentiation.
Meyer zu Schwabedissen HE et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2005
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.
Cebecauerova D et al.
Gastroenterology, 2005
[Diagnosis of cholestatic disorders].
Geier A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome.
Wakusawa S et al.
Journal of Human Genetics, 2003
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.
Mor-Cohen R et al.
The Journal of Biological Chemistry, 2001
Structure, function, expression, genomic organization, and single nucleotide polymorphisms of human ABCB1 (MDR1), ABCC (MRP), and ABCG2 (BCRP) efflux transporters.
Choudhuri S et al.
International Journal of Toxicology, 0