ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.

PubWeight™: 0.87‹?›

🔗 View Article (PMID 20887599)

Published in Hepatol Res on September 01, 2010

Authors

Gerald U Denk1, Hennie Bikker, Ronald H Lekanne Dit Deprez, Valeska Terpstra, Chris van der Loos, Ulrich Beuers, Christian Rust, Thomas Pusl

Author Affiliations

1: Department of Medicine II - Großhadern, University of Munich, Munich.

Articles by these authors

Serum autotaxin is increased in pruritus of cholestasis, but not of other origin, and responds to therapeutic interventions. Hepatology (2012) 2.39

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol (2011) 2.31

Lysophosphatidic acid is a potential mediator of cholestatic pruritus. Gastroenterology (2010) 2.18

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med (2002) 2.07

Immunoglobulin G4+ clones identified by next-generation sequencing dominate the B cell receptor repertoire in immunoglobulin G4 associated cholangitis. Hepatology (2013) 2.02

Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited. Hepatology (2002) 1.98

BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. Hepatology (2004) 1.88

Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J Clin Invest (2011) 1.86

Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: a systematic review. J Hepatol (2012) 1.84

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet (2013) 1.83

Free fatty acids repress small heterodimer partner (SHP) activation and adiponectin counteracts bile acid-induced liver injury in superobese patients with nonalcoholic steatohepatitis. Hepatology (2013) 1.78

High dose ursodeoxycholic acid for the treatment of primary sclerosing cholangitis is safe and effective. J Hepatol (2008) 1.72

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol (2009) 1.70

Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology (2009) 1.69

Relapse is almost universal after withdrawal of immunosuppressive medication in patients with autoimmune hepatitis in remission. J Hepatol (2012) 1.58

Pathophysiology and current management of pruritus in liver disease. Clin Res Hepatol Gastroenterol (2011) 1.57

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics (2004) 1.56

Pregnancy in primary sclerosing cholangitis. Gut (2011) 1.55

Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ Cardiovasc Genet (2009) 1.54

Primary biliary cirrhosis. Semin Immunopathol (2009) 1.46

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations. Mol Cell Endocrinol (2010) 1.44

Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. Nat Genet (2010) 1.43

Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics (2007) 1.43

Rising incidence and prevalence of primary biliary cirrhosis: a large population-based study. Liver Int (2014) 1.43

Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation. Cardiology (2012) 1.40

Population-based epidemiology, malignancy risk, and outcome of primary sclerosing cholangitis. Hepatology (2013) 1.39

Thyrotoxicosis: a lesson from the slaughterhouse. Ann Intern Med (2011) 1.39

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat (2009) 1.38

Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. J Hepatol (2012) 1.29

Intrahepatic cholestasis of pregnancy. Orphanet J Rare Dis (2007) 1.27

The type II inositol 1,4,5-trisphosphate receptor can trigger Ca2+ waves in rat hepatocytes. Gastroenterology (2002) 1.25

Focal nodular hyperplasia and hepatic adenoma: epidemiology and pathology. Dig Surg (2010) 1.22

Primary sclerosing cholangitis is associated with a distinct phenotype of inflammatory bowel disease. Inflamm Bowel Dis (2012) 1.21

Overlap syndromes among autoimmune liver diseases. World J Gastroenterol (2008) 1.21

Budesonide induces remission more effectively than prednisone in a controlled trial of patients with autoimmune hepatitis. Gastroenterology (2010) 1.18

Diagnostic accuracy of MRI in differentiating hepatocellular adenoma from focal nodular hyperplasia: prospective study of the additional value of gadoxetate disodium. AJR Am J Roentgenol (2012) 1.17

Nucleosomal DNA fragments in autoimmune diseases. Ann N Y Acad Sci (2006) 1.16

Bile salts and cholestasis. Dig Liver Dis (2010) 1.16

Mechanistic basis of desmosome-targeted diseases. J Mol Biol (2013) 1.16

Efficacy and safety of ursodeoxycholic acid versus cholestyramine in intrahepatic cholestasis of pregnancy. Gastroenterology (2005) 1.15

Serum immunoglobulin G4 and immunoglobulin G1 for distinguishing immunoglobulin G4-associated cholangitis from primary sclerosing cholangitis. Hepatology (2014) 1.13

Platelet function rather than plasmatic coagulation explains hypercoagulable state in cholestatic liver disease. J Hepatol (2002) 1.11

A biliary HCO3- umbrella constitutes a protective mechanism against bile acid-induced injury in human cholangiocytes. Hepatology (2012) 1.11

Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4. Hepatology (2013) 1.11

Mechanisms of action and therapeutic efficacy of ursodeoxycholic acid in cholestatic liver disease. Clin Liver Dis (2004) 1.09

A 3D in vitro model of differentiated HepG2 cell spheroids with improved liver-like properties for repeated dose high-throughput toxicity studies. Arch Toxicol (2014) 1.09

Bile acid-induced apoptosis in hepatocytes is caspase-6-dependent. J Biol Chem (2008) 1.08

Plasmacytoid dendritic cells protect against atherosclerosis by tuning T-cell proliferation and activity. Circ Res (2011) 1.08

PR3-ANCA-positive necrotizing multi-organ vasculitis following cocaine abuse. Acta Derm Venereol (2008) 1.08

Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One (2010) 1.07

Antimitochondrial antibodies may be insufficiently specific to define primary biliary cirrhosis-like disease in mouse models. Hepatology (2013) 1.07

Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm (2012) 1.06

Taurolithocholic acid exerts cholestatic effects via phosphatidylinositol 3-kinase-dependent mechanisms in perfused rat livers and rat hepatocyte couplets. J Biol Chem (2003) 1.05

Pregnancy in autoimmune hepatitis: outcome and risk factors. Am J Gastroenterol (2006) 1.05

Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol (2012) 1.05

Testicular inflammation as a new manifestation of IgG4-associated disease. Urology (2013) 1.02

Effect of ursodeoxycholic acid on bile acid profiles and intestinal detoxification machinery in primary biliary cirrhosis and health. J Hepatol (2012) 1.00

Mediators of pruritus during cholestasis. Curr Opin Gastroenterol (2011) 0.99

Immunoglobulin G4-associated cholangitis: one variant of immunoglobulin G4-related systemic disease. Digestion (2009) 0.97

Protease-activated receptor-2 induces myofibroblast differentiation and tissue factor up-regulation during bleomycin-induced lung injury: potential role in pulmonary fibrosis. Am J Pathol (2010) 0.95

Molecular basis for pacemaker cells in epithelia. J Biol Chem (2002) 0.95

Characterization of organic anion transporter regulation, glutathione metabolism and bile formation in the obese Zucker rat. J Hepatol (2005) 0.95

Non-invasive evaluation of liver fibrosis: a comparison of ultrasound-based transient elastography and MR elastography in patients with viral hepatitis B and C. Eur Radiol (2013) 0.94

Progressive stages of mitochondrial destruction caused by cell toxic bile salts. Biochim Biophys Acta (2013) 0.94

Pathogenesis and treatment of pruritus in cholestasis. Drugs (2008) 0.93

Overlap syndromes. Semin Liver Dis (2005) 0.92

Intrahepatic cholestasis of pregnancy--a heterogeneous group of pregnancy-related disorders? Hepatology (2006) 0.92

Baseline hepatitis B surface antigen (HBsAg) as predictor of sustained HBsAg loss in chronic hepatitis B patients treated with pegylated interferon-α2a and adefovir. Antivir Ther (2013) 0.92

Budesonide in previously untreated autoimmune hepatitis. Liver Int (2005) 0.91

IgG4-associated cholangitis: a comprehensive review. Clin Rev Allergy Immunol (2015) 0.91

Tauroursodeoxycholic acid reduces bile acid-induced apoptosis by modulation of AP-1. Biochem Biophys Res Commun (2007) 0.91

Exposure to occupational antigens might predispose to IgG4-related disease. Hepatology (2014) 0.91

Ursodeoxycholic acid treatment of vanishing bile duct syndromes. World J Gastroenterol (2006) 0.90

Pharmacokinetics and pharmacodynamic action of budesonide in early- and late-stage primary biliary cirrhosis. Hepatology (2003) 0.90

Expression of the hepatocyte canalicular multidrug resistance protein (MRP2) in primary biliary cirrhosis. Hepatol Res (2002) 0.90

Intrahepatic response markers in chronic hepatitis B patients treated with peginterferon alpha-2a and adefovir. J Gastroenterol Hepatol (2011) 0.89

Comparison of interobserver agreement of magnetic resonance elastography with histopathological staging of liver fibrosis. Abdom Imaging (2014) 0.89

Down-regulation of the organic cation transporter 1 of rat liver in obstructive cholestasis. Hepatology (2004) 0.89

The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations. J Mol Biol (2011) 0.89

Free fatty acids sensitize hepatocytes to bile acid-induced apoptosis. Biochem Biophys Res Commun (2008) 0.89

The ARVD/C genetic variants database: 2014 update. Hum Mutat (2015) 0.88

B cells in cluster or in a scattered pattern do not correlate with clinical outcome of renal allograft rejection. Transplantation (2008) 0.88

Primary biliary cirrhosis following Lactobacillus vaccination for recurrent vaginitis. J Hepatol (2008) 0.86

Predictors of premature delivery in patients with intrahepatic cholestasis of pregnancy. World J Gastroenterol (2007) 0.86

Tauro-β-muricholic acid restricts bile acid-induced hepatocellular apoptosis by preserving the mitochondrial membrane potential. Biochem Biophys Res Commun (2012) 0.86

Intragraft FOXP3 protein or mRNA during acute renal allograft rejection correlates with inflammation, fibrosis, and poor renal outcome. Transplantation (2009) 0.86