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
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Zheng S et al.
Journal of Clinical and Translational Hepatology, 2026
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 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
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy.
Huynh MT et al.
Clinical Genetics, 2018
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
Lhota F et al.
Clinical Genetics, 2016
RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
Zemankova P et al.
Clinical Genetics, 2016
Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
Okada H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
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
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.
Pacifico L et al.
Clinical Genetics, 2010
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
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S et al.
Human Mutation, 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
Absence of R1066X mutation in six Japanese patients with Dubin-Johnson syndrome.
Kagawa T et al.
Biochemistry and Molecular Biology International, 1999