Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.
Sgodda M et al.
Hepatology Communications, 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
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
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
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Sinha A et al.
Digestive Diseases and Sciences, 2022
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
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS et al.
Hepatology Communications, 2022
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant.
Lourembam R et al.
Jpgn Reports, 2021
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
Genomic classification of benign adrenocortical lesions.
Faillot S et al.
Endocrine-related Cancer, 2021
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
Identification and Replication of Six Loci Associated With Gallstone Disease.
Gellert-Kristensen H et al.
Hepatology (baltimore, Md.), 2019
Severe and protracted cholestasis in 44 young men taking bodybuilding supplements: assessment of genetic, clinical and chemical risk factors.
Stolz A et al.
Alimentary Pharmacology & Therapeutics, 2019
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Ferkingstad E et al.
Nature Communications, 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
The role of ABC transporters' gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy.
Piątek K et al.
Ginekologia Polska, 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
Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with eculizumab: The role of hepatocanalicular transporter variants.
Alashkar F et al.
European Journal of Haematology, 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
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.
Jüngst C 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
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
Analysis of functional variants reveals new candidate genes associated with alexithymia.
Mezzavilla M et al.
Psychiatry Research, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 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
Severe hepatocellular dysfunction in obstetric cholestasis related to combined genetic variation in hepatobiliary transporters.
Zimmer V et al.
Clinical and Experimental Obstetrics & Gynecology, 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
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
Genetics of cholestatic liver disease in 2010.
Karlsen TH et al.
Current Opinion in Gastroenterology, 2010
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
Bacq Y et al.
Journal of Medical Genetics, 2009
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
Tavian D et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009