Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.

Gut - 1 Apr 2009

Dixon P H, van Mil S W C, Chambers J, Strautnieks S, Thompson R J, Lammert F, Kubitz R, Keitel V, Glantz A, Mattsson L-A, Marschall H-U, Molokhia M, Moore G E, Linton K J, Williamson C

Abstract excerpt

BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) has a complex aetiology with a significant genetic component. ABCB11 encodes the bile salt export pump (BSEP); mutations cause a spectrum of cholestatic disease, and are implicated in the aetiology of ICP. METHODS: ABCB11 variation in ICP was investigated by screening for five mutant alleles (E297G, D482G, N591S, D676Y and G855R) and the V444A polymorphism...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to DNA Mutational Analysis

Share to Models, Molecular

Share to Pregnancy

Share to Pregnancy Complications

Share to Structure-Activity Relationship

Source

Identifiers

PMID: 18987030
DOI: 10.1136/gut.2008.159541

Genes

ABCB11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.PMID 18987030Read ↗

A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.Semantic proximity Read ↗

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancySemantic proximity Read ↗

The role of genetic mutations in intrahepatic cholestasis of pregnancySemantic proximity Read ↗

ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancySemantic proximity Read ↗

Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.Semantic proximity Read ↗

Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study.Semantic proximity Read ↗

Intrahepatic Cholestasis of Pregnancy: A Single-Centre Whole-Exome Sequencing Study in a Maltese Cohort.Semantic proximity Read ↗

ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.Semantic proximity Read ↗

Genetic issues in ICPSemantic proximity Read ↗

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancySemantic proximity Read ↗

Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancySemantic proximity Read ↗

Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.