The genetics of complex cholestatic disorders.

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Gastroenterology

• Publication date

  2013-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1053/j.gastro.2013.03.053PMID 23583734PMCID PMC3705954
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Deletion of interleukin (IL)‐12p35 induces liver fibrosis in dominant‐negative TGFβ receptor type II mice

  2013cited by this paper
• Sex Differences in the Gut Microbiome Drive Hormone-Dependent Regulation of Autoimmunity

  2013cited by this paper
• Calcineurin Inhibitors and the IL12A Locus Influence Risk of Recurrent Primary Biliary Cirrhosis After Liver Transplantation

  2013cited by this paper
• IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis

  2013cited by this paper
• Y chromosome loss in male patients with primary biliary cirrhosis.

  2013cited by this paper
• Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

  2013cited by this paper
• Human Microbiome and HIV/AIDS

  2012cited by this paper
• The Predictive Capacity of Personal Genome Sequencing

  2012cited by this paper
• Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: a systematic review.

  2012cited by this paper
• Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

  2012cited by this paper
• Classical HLA-DRB1 and DPB1 Alleles Account for HLA Associations with Primary Biliary Cirrhosis

  2012cited by this paper
• Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

  2012cited by this paper
• A Genome-Wide Association Study of Total Bilirubin and Cholelithiasis Risk in Sickle Cell Anemia

  2012cited by this paper
• T-bet+ Treg Cells Undergo Abortive Th1 Cell Differentiation due to Impaired Expression of IL-12 Receptor β2

  2012cited by this paper
• Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

  2012cited by this paper
• Phytosterol and cholesterol precursor levels indicate increased cholesterol excretion and biosynthesis in gallstone disease

  2012cited by this paper
• The composition and signaling of the IL-35 receptor are unconventional

  2012cited by this paper
• Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity

  2012cited by this paper
• Materials for : Host-microbe interactions shape genetic risk for inflammatory bowel disease

  2012cited by this paper
• Immune self-reactivity triggered by drug-modified HLA-peptide repertoire

  2012cited by this paper
• A metagenome-wide association study of gut microbiota in type 2 diabetes

  2012cited by this paper
• Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

  2012influential reference
• Five years of GWAS discovery.

  2012cited by this paper
• Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

  2012cited by this paper
• An Integrated Encyclopedia of DNA Elements in the Human Genome

  2012cited by this paper
• Intestinal absorption, hepatic synthesis, and biliary secretion of cholesterol: Where are we for cholesterol gallstone formation?

  2012cited by this paper
• Pediatric Obesity and Gallstone Disease

  2012cited by this paper
• Inflammatory bowel disease in patients with primary sclerosing cholangitis: Clinical characterization in liver transplanted and nontransplanted patients

  2012cited by this paper
• Mouse mammary tumor virus in anti-mitochondrial antibody producing mouse models.

  2011cited by this paper
• Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype

  2011cited by this paper
• Dissecting the Genetic Heterogeneity of Gallbladder Stone Formation

  2011cited by this paper
• Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9

  2011cited by this paper
• Sterol transporter adenosine triphosphate–binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population

  2011cited by this paper
• Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving

  2011cited by this paper
• Unravelling the effects of the environment and host genotype on the gut microbiome

  2011cited by this paper
• Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.

  2011cited by this paper
• Pervasive Sharing of Genetic Effects in Autoimmune Disease

  2011cited by this paper
• Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

  2011cited by this paper
• NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2

  2011cited by this paper
• Diagnosis of primary biliary cirrhosis.

  2011cited by this paper
• Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

  2011cited by this paper
• Gallstones: Environment, Lifestyle and Genes

  2011cited by this paper
• IRF5 promotes inflammatory macrophage polarization and TH1-TH17 responses

  2011cited by this paper
• Metagenomics and personalized medicine.

  2011cited by this paper
• Genomics in the post-GWAS era.

  2011cited by this paper
• Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

  2011cited by this paper
• Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

  2011influential reference
• Progress in the genetics of primary biliary cirrhosis.

  2011cited by this paper
• HLA and KIR Frequencies in Sicilian Centenarians

  2010cited by this paper
• Genome-wide association studies and genetic risk assessment of liver diseases

  2010cited by this paper
• Pathophysiological preconditions promoting mixed "black" pigment plus cholesterol gallstones in a DeltaF508 mouse model of cystic fibrosis.

  2010cited by this paper
• Virus-plus-susceptibility gene interaction determines Crohn's disease gene Atg16L1 phenotypes in intestine.

  2010cited by this paper
• Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population

  2010cited by this paper
• Pathogenesis of cholestatic liver disease and therapeutic approaches.

  2010cited by this paper
• ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis[S]

  2010cited by this paper
• Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

  2010cited by this paper
• Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T‐lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: Evidence for a gene–gene interaction

  2010influential reference
• Genome-wide association analysis in primary sclerosing cholangitis.

  2010cited by this paper
• Update on primary sclerosing cholangitis.

  2010cited by this paper
• Primary sclerosing cholangitis.

  2010cited by this paper
• Frequencies of Four ATP-Binding Cassette Transporter G8 Polymorphisms in Patients with Ischemic Vascular Diseases

  2010cited by this paper
• Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition.

  2010cited by this paper
• Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype

  2010cited by this paper
• Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

  2010cited by this paper
• Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease

  2010cited by this paper
• 50 A Genome-Wide Scan Identifies TM4SF4 (Intestine and Liver Tetraspan Membrane Protein 4) as a Susceptibility Locus for Gallstone Disease

  2010cited by this paper
• The utility of genome‐wide association studies in hepatology

  2010cited by this paper
• Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

  2010cited by this paper
• Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India

  2010cited by this paper
• Finding the missing heritability of complex diseases

  2009cited by this paper
• Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

  2009cited by this paper
• Roles of infection, inflammation, and the immune system in cholesterol gallstone formation.

  2009cited by this paper
• Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity

  2009cited by this paper
• A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians

  2009cited by this paper
• Clinical risk factors, DNA variants, and the development of type 2 diabetes.

  2009cited by this paper
• Deficiency in regulatory T cells results in development of antimitochondrial antibodies and autoimmune cholangitis

  2009cited by this paper
• Primary biliary cirrhosis, bacteria and molecular mimicry: what's the molecule and where's the mimic?

  2009cited by this paper
• Induction of autoimmune cholangitis in non‐obese diabetic (NOD).1101 mice following a chemical xenobiotic immunization

  2009cited by this paper
• HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin

  2009cited by this paper
• Identifizierung neuer Gallensteingene (LITH-Gene) in einer genomweiten Assoziationsstudie basierend auf der „Gallensteinkarte“ des Inzuchtmausmodells der Cholelithiasis

  2009cited by this paper
• ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia.

  2009cited by this paper
• AUTOIMMUNE, CHOLESTATIC AND BILIARY DISEASE Deletion of Interleukin-12p40 Suppresses Autoimmune Cholangitis in Dominant Negative Transforming Growth Factor Receptor Type II Mice

  2009cited by this paper
• Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

  2009cited by this paper
• Clinical risk factors, DNA variants, and the development of type 2 diabetes.

  2008cited by this paper
• Liver Autoimmunity Triggered by Microbial Activation of Natural Killer T Cells

  2008cited by this paper
• Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin.

  2008cited by this paper
• Ae2a,b-deficient mice develop antimitochondrial antibodies and other features resembling primary biliary cirrhosis.

  2008cited by this paper
• Development of autoimmune hepatitis-like disease and production of autoantibodies to nuclear antigens in mice lacking B and T lymphocyte attenuator.

  2008influential reference
• Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease

  2008cited by this paper
• Biliary cirrhosis in a child with inherited interleukin-12 deficiency.

  2008cited by this paper
• Predicting Type 2 Diabetes Based on Polymorphisms From Genome-Wide Association Studies

  2008cited by this paper
• Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

  2007cited by this paper
• Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis

  2007cited by this paper
• Stratified medicine: strategic and economic implications of combining drugs and clinical biomarkers

  2007cited by this paper
• Increased gallstone risk in humans conferred by common variant of hepatic ATP‐binding cassette transporter for cholesterol

  2007cited by this paper
• A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

  2007influential reference
• Genetic predisposition to gallbladder stones.

  2007cited by this paper
• A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1

  2007cited by this paper
• Genetic epidemiology of primary sclerosing cholangitis.

  2007cited by this paper
• An autoimmune biliary disease mouse model for primary biliary cirrhosis: Something for everyone

  2006cited by this paper

• Trans-ancestry genome-wide association meta-analysis of gallstone disease

  2025cites this paper
• Advances in liver and pancreas organoids: how far we have come and where we go next

  2025cites this paper
• An Integrated Pathogenetic Model of Primary Biliary Cholangitis

  2025cites this paper
• Odevixibat for Episodic Intrahepatic Cholestasis due to Biallelic Mutations in ATP8B1: A Case Series

  2025cites this paper
• Severe Cholestasis Predicts Recurrent Primary Sclerosing Cholangitis Following Liver Transplantation

  2024cites this paper
• Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3

  2024cites this paper
• Uncovering the pharmacological mechanism and the main herbal medicine contributing to the efficacy of Xiaoyanlidan Tablet (XYLDT) in treating cholestatic liver injury.

  2024cites this paper
• Mechanistic studies on the alleviation of ANIT-induced cholestatic liver injury by Polygala fallax Hemsl. polysaccharides.

  2024cites this paper
• Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report

  2023cites this paper
• ABCC subfamily in GtoPdb v.2023.1

  2023cites this paper
• Yinchen decoction protects against cholic acid diet-induced cholestatic liver injury in mice through liver and ileal FXR signaling.

  2023cites this paper
• Tibetan medicine Si-Wei-Qiang-Wei Powder ameliorates cholecystitis via inhibiting the production of pro-inflammatory cytokines and regulating the MAPK signaling pathway.

  2022cites this paper
• Linking Human Betaretrovirus with Autoimmunity and Liver Disease in Patients with Primary Biliary Cholangitis

  2022influential citation
• Mechanism and Active Components of Qingre Lidan Tablets Alleviate Intrahepatic Cholestasis by Activating the Farnesoid X Receptor

  2022cites this paper
• Autoimmune liver diseases, hepatocellular carcinoma, and recurrence of autoimmunity post-liver transplantation

  2021cites this paper
• Mapping of de novo mutations in primary biliary cholangitis to a disease-specific co-expression network underlying homeostasis and metabolism.

  2021cites this paper
• Novel approaches to liver disease diagnosis and modeling.

  2021cites this paper
• Effect of Different Ratios of Yinchen and Gancao Decoction on ANIT-Treated Cholestatic Liver Injury in Mice and Its Potential Underlying Mechanism

  2021cites this paper
• Biomarkers of cholestasis.

  2021cites this paper
• Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults

  2021cites this paper
• Network Pharmacology-Based Mechanism Prediction and Pharmacological Validation of Xiaoyan Lidan Formula on Attenuating Alpha-Naphthylisothiocyanate Induced Cholestatic Hepatic Injury in Rats.

  2021cites this paper
• Cholestatic liver disease: Practice guidelines from the Saudi Association for the Study of Liver diseases and Transplantation

  2021cites this paper
• Protective effects of n-Butanol extract and iridoid glycosides of Veronica ciliata Fisch. against ANIT-induced cholestatic liver injury in mice.

  2020cites this paper
• Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation

  2020cites this paper
• Entzündungen und Cholelithiasis

  2020cites this paper
• Ultrasonographic evaluation of gastrointestinal system involvement in chronic inflammatory rheumatic diseases

  2020cites this paper
• Review: Pathogenesis of cholestatic liver diseases

  2020cites this paper
• Molecular Physiology of Bile Acid Signaling in Health, Disease and Aging.

  2020cites this paper
• From Fatty Hepatocytes to Impaired Bile Flow: Matching Model Systems for Liver Biology and Disease.

  2020cites this paper
• Cholilithiasis: A study on clinical presentation and management

  2020cites this paper
• Environmental Exposure and Risk in Autoimmune Liver Diseases

  2020cites this paper
• Hepatic Adenosine Triphosphate‐Binding Cassette Transport Proteins and Their Role in Physiology

  2020cites this paper
• Seroprevalence of Human Betaretrovirus Surface Protein Antibodies in Patients with Breast Cancer and Liver Disease

  2020cites this paper
• Risk assessment of gallstone among indoor patients of chronic liver diseases secondary to Hepatitis C.

  2019cites this paper
• Randomized clinical trial: Combination antiretroviral therapy with tenofovir-emtricitabine and lopinavir-ritonavir in patients with primary biliary cholangitis.

  2019cites this paper
• Genetics of Nonalcoholic Fatty Liver Disease: From Pathogenesis to Therapeutics

  2019cites this paper
• Smoke and Autoimmunity

  2019cites this paper
• Salvianolic acid B protects against ANIT-induced cholestatic liver injury through regulating bile acid transporters and enzymes, and NF-κB/IκB and MAPK pathways

  2019cites this paper
• Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis

  2019cites this paper
• ABCB subfamily (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

  2019cites this paper
• Molecular findings in children with inherited intrahepatic cholestasis

  2019cites this paper
• Picroside II protects against cholestatic liver injury possibly through activation of farnesoid X receptor.

  2019cites this paper
• Down-regulation of AIF1 inhibits gallbladder cancer cell proliferation, invasion, and EMT by regulating the TGF-β1/P38 pathway

  2019cites this paper
• Single-nucleotide rs738409 polymorphisms in the PNPLA3 gene are strongly associated with alcoholic liver disease in Han Chinese males

  2018cites this paper
• The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters.

  2018cites this paper
• Genetics of gallstone disease

  2018cites this paper
• Digestive and Hepatic Aspects of the Rheumatic Diseases.

  2018cites this paper
• Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

  2018cites this paper
• New perspectives on the complexity of genetic predisposition to autoimmune liver disease in indigenous Canadians

  2018cites this paper
• J HEPAT-S16-01356 The Genetics of Alcohol Dependence and Alcohol-related Liver Disease

  2018cites this paper
• Evidenzbasierte Prävention des Gallensteinleidens

  2018cites this paper
• Gastrointestinal and Hepatic Disease in Spondyloarthritis.

  2018cites this paper
• Pharmacokinetic and Pharmacodynamic Properties of Rosmarinic Acid in Rat Cholestatic Liver Injury

  2018cites this paper
• Claudin-3 regulates bile canalicular paracellular barrier and cholesterol gallstone core formation in mice.

  2018cites this paper
• Is PBC a viral infectious disease?

  2018cites this paper
• 9 – Bile Duct Diseases

  2018cites this paper
• Autoimmune Hepatitis and Immune-Mediated Cholestatic Liver Diseases

  2018cites this paper
• An Assessment of Knowledge towards Acute Cholecystitis among General Population of Albaha City

  2018cites this paper
• New Approaches to Investigate Drug-Induced Hypersensitivity.

  2017cites this paper
• The genetics of alcohol dependence and alcohol-related liver disease.

  2017cites this paper
• Primary Sclerosing Cholangitis (PSC): Current Concepts in Biology and Strategies for New Therapy

  2017cites this paper
• 95 – Bile Acid Metabolism During Development

  2017cites this paper
• Bile acids and cardiovascular function in cirrhosis

  2017cites this paper
• Cholecystectomy during ceftriaxone therapy. A translational study with a new rabbit model.

  2017cites this paper
• Gallstone Disease: Scientific Understanding and Future Treatment

  2017cites this paper
• Gallstone disease and mortality: a cohort study

  2017cites this paper
• Genetic determinants of cholangiopathies: Molecular and systems genetics.

  2017cites this paper
• Genetic profiling of children with advanced cholestatic liver disease

  2017cites this paper
• Recurrence of primary biliary cholangitis after liver transplantation: A Japanese perspective

  2017cites this paper
• ABCMdb reloaded: updates on mutations in ATP binding cassette proteins

  2017cites this paper
• Epigenetics in the Primary Biliary Cholangitis and Primary Sclerosing Cholangitis

  2017cites this paper
• Beneficial effect of resveratrol on α‑naphthyl isothiocyanate‑induced cholestasis via regulation of the FXR pathway.

  2017cites this paper
• Systematic review: recurrent autoimmune liver diseases after liver transplantation

  2017cites this paper
• Model Systems for Studying the Role of Canalicular Efflux Transporters in Drug-Induced Cholestatic Liver Disease.

  2017cites this paper
• Update on primary sclerosing cholangitis

  2017cites this paper
• SRT1720 Alleviates ANIT-Induced Cholestasis in a Mouse Model

  2017cites this paper
• Genetic Determinants of the Gut Microbiome in UK Twins.

  2016cites this paper
• Geniposidic acid protected against ANIT-induced hepatotoxity and acute intrahepatic cholestasis, due to Fxr-mediated regulation of Bsep and Mrp2.

  2016cites this paper
• The Immunogenetics of Autoimmune Cholestasis

  2016influential citation
• Sweroside ameliorates α-naphthylisothiocyanate-induced cholestatic liver injury in mice by regulating bile acids and suppressing pro-inflammatory responses

  2016cites this paper
• Smoke and autoimmunity: The fire behind the disease.

  2016cites this paper
• Two Liver Transporters, ABCB11 and ABCC6; Novel Therapeutic Approaches in the Related Disorders

  2016cites this paper
• Évaluation de l'intérêt de l'insertion d'une prothèse biliaire couverte au cours du traitement endoscopique d'une angiocholite lithiasique

  2016influential citation
• Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function

  2016cites this paper
• University of Birmingham Mechanisms of tissue injury in autoimmune liver diseases

  2016cites this paper
• The enteric nervous system in patients with calculous and acalculous gallbladder.

  2016cites this paper
• Combination antiretroviral studies for patients with primary biliary cirrhosis.

  2016cites this paper
• ER stress contributes to alpha-naphthyl isothiocyanate-induced liver injury with cholestasis in mice.

  2016cites this paper
• The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency

  2016cites this paper
• Curcumin protects ANIT-induced cholestasis through signaling pathway of FXR-regulated bile acid and inflammation

  2016cites this paper
• Gallstones

  2016cites this paper
• ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

  2016cites this paper
• Hepatitis C Virus Infection Is Positively Associated with Gallstones in Liver Cirrhosis

  2016cites this paper
• Genetics of liver disease: From pathophysiology to clinical practice.

  2015influential citation
• Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.

  2015influential citation
• Alisol B 23-acetate protects against ANIT-induced hepatotoxity and cholestasis, due to FXR-mediated regulation of transporters and enzymes involved in bile acid homeostasis.

  2015cites this paper
• Follicles, germinal centers, and immune mechanisms in primary biliary cirrhosis

  2015cites this paper
• Increased Numbers of Circulating ICOS+ Follicular Helper T and CD38+ Plasma Cells in Patients with Newly Diagnosed Primary Biliary Cirrhosis

  2015cites this paper
• Genome-Wide Association Studies in Primary Biliary Cirrhosis

  2015cites this paper
• Primary biliary cirrhosis: From bench to bedside.

  2015cites this paper