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
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 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
Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review.
Costa CJ et al.
Journal of Clinical and Translational Hepatology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie S et al.
Frontiers in Pharmacology, 2023
Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.
Kim JH et al.
International Journal of Molecular Sciences, 2022
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
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E et al.
Plos Genetics, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 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
Genetic Diversity in Drug Transporters: Impact in African Populations.
Rajman I et al.
Clinical and Translational Science, 2020
Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.
Kim KY et al.
Bmc Pediatrics, 2020
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA et al.
European Journal of Medical Genetics, 2019
Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome.
Wu L et al.
Experimental and Therapeutic Medicine, 2018
Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.
Togawa T et al.
The Journal of Pediatrics, 2018
Characterization of ADME gene variation in 21 populations by exome sequencing.
Hovelson DH et al.
Pharmacogenetics and Genomics, 2017
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang NL et al.
Plos One, 2016
Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis.
Pratt VM et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Polymorphisms of the drug transporters ABCB1, ABCG2, ABCC2 and ABCC3 and their impact on drug bioavailability and clinical relevance.
Bruhn O et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
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
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients.
Yi JH et al.
Genomics & Informatics, 2013
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
ATP-binding cassette transporters as pharmacogenetic biomarkers for kidney transplantation.
Shuker N et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Genetic association analysis of transporters identifies ABCC2 loci for seizure control in women with epilepsy on first-line antiepileptic drugs.
Grover S et al.
Pharmacogenetics and Genomics, 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
Functional analysis of nonsynonymous single nucleotide polymorphisms of multidrug resistance-associated protein 2 (ABCC2).
Megaraj V et al.
Pharmacogenetics and Genomics, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.
Pacifico L et al.
Clinical Genetics, 2010
Genetic variation in metabolizing enzyme and transporter genes: comprehensive assessment in 3 major East Asian subpopulations with comparison to Caucasians and Africans.
Man M et al.
Journal of Clinical Pharmacology, 2010
Pharmacogenetics of membrane transporters: an update on current approaches.
Sissung TM et al.
Molecular Biotechnology, 2010
Influence of genetic polymorphisms on intestinal expression and rifampicin-type induction of ABCC2 and on bioavailability of talinolol.
Haenisch S et al.
Pharmacogenetics and Genomics, 2008
The identification of two germ-line mutations in the human breast cancer resistance protein gene that result in the expression of a low/non-functional protein.
Yoshioka S et al.
Pharmaceutical Research, 2007
MRP2 haplotypes confer differential susceptibility to toxic liver injury.
Choi JH et al.
Pharmacogenetics and Genomics, 2007
Influence of polymorphisms of ABCB1 and ABCC2 on mRNA and protein expression in normal and cancerous kidney cortex.
Haenisch S et al.
The Pharmacogenomics Journal, 2007