Associated Papers
Molecular and histopathological insights into renal neuroendocrine tumors (RenNETs): A comprehensive study.
Zhang K et al.
Pathology, Research and Practice, 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
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.
Peng Z et al.
Clinical Genetics, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation.
Sun RY et al.
Egastroenterology, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.
Yang J et al.
Frontiers in Oncology, 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
Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.
Fu H et al.
Pediatric Research, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.
Choi YM et al.
Cancers, 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
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
Importance of Comprehensive Molecular Profiling for Clinical Outcome in Children With Recurrent Cancer.
Østrup O et al.
Frontiers in Pediatrics, 2018
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
Additive effects of drug transporter genetic polymorphisms on irinotecan pharmacokinetics/pharmacodynamics in Japanese cancer patients.
Sai K et al.
Cancer Chemotherapy and Pharmacology, 2010
Genetic background of Japanese patients with adult-onset storage diseases in the liver.
Hayashi H et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2007
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
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan.
Machida I et al.
Journal of Gastroenterology, 2005