The genetics of complex cholestatic disorders (Q26992279)

author name string

Gideon M. Hirschfield

1

1 reference

Roger W. Chapman

2

1 reference

Frank Lammert

4

1 reference

Konstantinos N. Lazaridis

5

1 reference

Andrew L. Mason

6

1 reference

language of work or name

1 reference

June 2013

1 reference

1 reference

144

1 reference

page(s)

1357-74

1 reference

issue

7

1 reference

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

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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

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Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants

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Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

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Roles of infection, inflammation, and the immune system in cholesterol gallstone formation

21 March 2017

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Liver autoimmunity triggered by microbial activation of natural killer T cells

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Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

21 March 2017

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Evolutionarily divergent herpesviruses modulate T cell activation by targeting the herpesvirus entry mediator cosignaling pathway

21 March 2017

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Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease

21 March 2017

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Immune self-reactivity triggered by drug-modified HLA-peptide repertoire

21 March 2017

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Human susceptibility and resistance to Norwalk virus infection

21 March 2017

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Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

21 March 2017

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 March 2017

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T-bet(+) Treg cells undergo abortive Th1 cell differentiation due to impaired expression of IL-12 receptor β2

21 March 2017

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NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2

21 March 2017

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IRF5 promotes inflammatory macrophage polarization and TH1-TH17 responses

21 March 2017

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 March 2017

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Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol

21 March 2017

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The formation of abnormal bile and cholesterol gallstones from dietary cholesterol in the prairie dog

21 March 2017

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Inflammasome-mediated dysbiosis regulates progression of NAFLD and obesity

21 March 2017

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The composition and signaling of the IL-35 receptor are unconventional

21 March 2017

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Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population

21 March 2017

1 reference

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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

21 March 2017

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Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

21 March 2017

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Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

21 March 2017

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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

21 March 2017

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HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin

7 April 2017

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A metagenome-wide association study of gut microbiota in type 2 diabetes

7 April 2017

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A whole-genome association study of major determinants for host control of HIV-1

7 April 2017

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Interleukin-12 and the regulation of innate resistance and adaptive immunity

7 April 2017

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

7 April 2017

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A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia

28 September 2017

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IL-10R polymorphisms are associated with very-early-onset ulcerative colitis

28 September 2017

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Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci

28 September 2017

1 reference

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The predictive capacity of personal genome sequencing

28 September 2017

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Pediatric obesity and gallstone disease

28 September 2017

1 reference

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Human microbiome and HIV/AIDS

28 September 2017

1 reference

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Diagnosis of primary biliary cirrhosis

28 September 2017

1 reference

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Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype

28 September 2017

1 reference

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Metagenomics and personalized medicine

28 September 2017

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Pervasive sharing of genetic effects in autoimmune disease

28 September 2017

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Gallstones: environment, lifestyle and genes

28 September 2017

1 reference

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Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles

28 September 2017

1 reference

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Human leukocyte antigen in primary biliary cirrhosis: an old story now reviving

28 September 2017

1 reference

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Genomics in the post-GWAS era.

28 September 2017

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Dissecting the genetic heterogeneity of gallbladder stone formation

28 September 2017

1 reference

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Progress in the genetics of primary biliary cirrhosis

28 September 2017

1 reference

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Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9

28 September 2017

1 reference

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Unravelling the effects of the environment and host genotype on the gut microbiome

28 September 2017

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Genome-wide association studies and genetic risk assessment of liver diseases

28 September 2017

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Pathogenesis of cholestatic liver disease and therapeutic approaches

28 September 2017

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Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

28 September 2017

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ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis

28 September 2017

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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

28 September 2017

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Genetic regulation of serum phytosterol levels and risk of coronary artery disease

28 September 2017

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Pathophysiological preconditions promoting mixed "black" pigment plus cholesterol gallstones in a DeltaF508 mouse model of cystic fibrosis

28 September 2017

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Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

28 September 2017

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HLA and KIR frequencies in Sicilian Centenarians

28 September 2017

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The utility of genome-wide association studies in hepatology

28 September 2017

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Genome-wide association analysis in primary sclerosing cholangitis

28 September 2017

1 reference

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Deletion of interleukin-12p40 suppresses autoimmune cholangitis in dominant negative transforming growth factor beta receptor type II mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity

28 September 2017

1 reference

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Deficiency in regulatory T cells results in development of antimitochondrial antibodies and autoimmune cholangitis

28 September 2017

1 reference

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Clinical risk factors, DNA variants, and the development of type 2 diabetes

28 September 2017

1 reference

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Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study

28 September 2017

1 reference

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Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin.

28 September 2017

1 reference

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Stratified medicine: strategic and economic implications of combining drugs and clinical biomarkers

28 September 2017

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Genetic predisposition to gallbladder stones

28 September 2017

1 reference

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NOD.c3c4 congenic mice develop autoimmune biliary disease that serologically and pathogenetically models human primary biliary cirrhosis

28 September 2017

1 reference

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MHC class II proteins and disease: a structural perspective

28 September 2017

1 reference

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Lithocholic acid feeding induces segmental bile duct obstruction and destructive cholangitis in mice.

28 September 2017

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Mechanisms of disease: the genetic epidemiology of gallbladder stones

28 September 2017

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Characteristics of primary biliary cirrhosis in British Columbia's First Nations population

28 September 2017

1 reference

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Characteristic multiorgan pathology of cystic fibrosis in a long-living cystic fibrosis transmembrane regulator knockout murine model

28 September 2017

1 reference

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Does a betaretrovirus infection trigger primary biliary cirrhosis?

28 September 2017

1 reference

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The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases

28 September 2017

1 reference

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Identification and precursor frequency analysis of a common T cell epitope motif in mitochondrial autoantigens in primary biliary cirrhosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Chronic active hepatitis in mice caused by Helicobacter hepaticus

28 September 2017

1 reference

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Expression of a human alpha-1,3/4-fucosyltransferase in the pit cell lineage of FVB/N mouse stomach results in production of Leb-containing glycoconjugates: a potential transgenic mouse model for studying Helicobacter pylori infection

28 September 2017

1 reference

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Lith1, a major gene affecting cholesterol gallstone formation among inbred strains of mice

28 September 2017

1 reference

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Association of primary sclerosing cholangitis with HLA-B8.

28 September 2017

1 reference

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New mouse models for chronic Cryptosporidium infection in immunodeficient hosts.

28 September 2017

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Classical HLA-DRB1 and DPB1 alleles account for HLA associations with primary biliary cirrhosis

28 September 2017

1 reference

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Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India

31 May 2018

1 reference

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Development of autoimmune hepatitis-like disease and production of autoantibodies to nuclear antigens in mice lacking B and T lymphocyte attenuator

31 May 2018

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Ductular expression of autoantigens in primary biliary cirrhosis

31 May 2018

1 reference

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Small duct cholangitis induced by N-formyl L-methionine L-leucine L-tyrosine in rats

31 May 2018

1 reference

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Pigment gallstone formation in the cholesterol-fed guinea pig.

31 May 2018

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Acquired immunodeficiency syndrome cholangiopathy: spectrum of disease

31 May 2018

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Calcineurin inhibitors and the IL12A locus influence risk of recurrent primary biliary cirrhosis after liver transplantation

31 May 2018

1 reference

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Y chromosome loss in male patients with primary biliary cirrhosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Sex differences in the gut microbiome drive hormone-dependent regulation of autoimmunity.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Phytosterol and cholesterol precursor levels indicate increased cholesterol excretion and biosynthesis in gallstone disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Mouse mammary tumor virus in anti-mitochondrial antibody producing mouse models

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Frequencies of four ATP-binding cassette transporter G8 polymorphisms in patients with ischemic vascular diseases

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Loci From a Genome-Wide Analysis of Bilirubin Levels Are Associated With Gallstone Risk and Composition

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Primary biliary cirrhosis, bacteria and molecular mimicry: what's the molecule and where's the mimic?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Induction of autoimmune cholangitis in non-obese diabetic (NOD).1101 mice following a chemical xenobiotic immunization

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Ae2a,b-deficient mice develop antimitochondrial antibodies and other features resembling primary biliary cirrhosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Biliary cirrhosis in a child with inherited interleukin-12 deficiency

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Genetic epidemiology of primary sclerosing cholangitis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

IL-2 receptor alpha(-/-) mice and the development of primary biliary cirrhosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Anti-mitochondrial antibodies and primary biliary cirrhosis in TGF-beta receptor II dominant-negative mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Identification of cholelithogenic enterohepatic helicobacter species and their role in murine cholesterol gallstone formation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Regurgitation of bile acids from leaky bile ducts causes sclerosing cholangitis in Mdr2 (Abcb4) knockout mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Frequency of monosomy X in women with primary biliary cirrhosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Spontaneous cholecysto- and hepatolithiasis in Mdr2-/- mice: a model for low phospholipid-associated cholelithiasis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

FXR and ABCG5/ABCG8 as determinants of cholesterol gallstone formation from quantitative trait locus mapping in mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Liver and bile duct pathology following Cryptosporidium parvum infection of immunodeficient mice.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705954

Update on primary sclerosing cholangitis

28 November 2018

1 reference

12 December 2020

Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population

1 reference

12 December 2020

Genetic control of autoimmunity: protection from diabetes, but spontaneous autoimmune biliary disease in a nonobese diabetic congenic strain

1 reference

12 December 2020

Biliary tract disease in rats with experimental small bowel bacterial overgrowth

1 reference

12 December 2020

Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria

1 reference

12 December 2020

An autoimmune biliary disease mouse model for primary biliary cirrhosis: something for everyone

1 reference

12 December 2020

Aspirin prevention of cholesterol gallstone formation in prairie dogs

1 reference

12 December 2020

Increased frequency of autoimmune diseases in patients with primary sclerosing cholangitis

1 reference

12 December 2020

Inflammatory bowel disease in patients with primary sclerosing cholangitis: clinical characterization in liver transplanted and nontransplanted patients

1 reference

12 December 2020

A novel rat model of chronic fibrosing cholangitis induced by local administration of a hapten reagent into the dilated bile duct is associated with increased TNF-alpha production and autoantibodies

1 reference

12 December 2020

Induction of chronic cholangitis in the rat by trinitrobenzenesulfonic acid

1 reference

12 December 2020

Alimentary production of gallstones in hamsters

1 reference

12 December 2020

Primary sclerosing cholangitis

1 reference

12 December 2020

10.1053/J.GASTRO.2013.03.053

Identifiers

DOI

1 reference

release_6rimtl44ejdx3ivbs75crfxtfe

2457902

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6rimtl44ejdx3ivbs75crfxtfe

24 November 2022

mapped directly with Wikidata item

2457902

1 reference

1 reference

1 reference