Associated Papers
Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.
Mäntylä S et al.
Acta Neuropathologica Communications, 2026
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis.
Kreimeyer H et al.
Journal of Personalized Medicine, 2023
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.
Sahloul A et al.
Frontiers in Surgery, 2023
A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
Biyoukar M et al.
Jhep Reports : Innovation in Hepatology, 2022
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS et al.
Hepatology Communications, 2022
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
Wei G et al.
Journal of Hepatology, 2021
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S et al.
World Journal of Gastroenterology, 2020
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
de Vries E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.
Mitra S et al.
Fetal and Pediatric Pathology, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Schatz SB et al.
Hepatology Communications, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Scientific Reports, 2017
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2016
MDR3 mutation analysis: A step closer to precision medicine.
Bezerra JA
Hepatology (baltimore, Md.), 2016
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D et al.
Journal of Gastroenterology, 2016
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2016
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
Jirsa M et al.
World Journal of Gastroenterology, 2014
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.
Anzivino C et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2013
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
Denk GU et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2010
Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood.
Bronský J et al.
Folia Biologica, 2010
ABCB4 sequence variations in young adults with cholesterol gallstone disease.
Nakken KE et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2009
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Ziol M et al.
Gastroenterology, 2008
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D et al.
European Journal of Human Genetics : Ejhg, 2007
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
Rosmorduc O et al.
Orphanet Journal of Rare Diseases, 2007
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Oude Elferink RP et al.
Pflugers Archiv : European Journal of Physiology, 2007
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2006
ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O et al.
Gastroenterology, 2003
MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update.
Mbongo-Kama E et al.
Annals of Hepatology, 0
ABCB4 disease: Many faces of one gene deficiency.
Sticova E et al.
Annals of Hepatology, 0