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

ABCB4 sequence variations in young adults with cholesterol gallstone disease.

Liver international : official journal of the International Association for the Study of the Liver - 1 May 2009

Nakken Karl Esten, Labori Knut Jørgen, Rødningen Olaug K, Nakken Sigve, Berge Knut E, Eiklid Kristin, Raeder Morten G

Abstract excerpt

BACKGROUND AND AIMS: Mutations in the gene encoding the ABCB4 [adenosine triphosphate (ATP)-binding cassette, sub-family B (MDR/TAP), member 4] transporter lower phosphatidylcholine output into bile and contribute to cholesterol gallstone formation by decreasing the solubility of cholesterol in bile. Mutations in ABCB4 have been identified in patients with low phospholipid-associated cholelithiasis. The aim of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to ATP Binding Cassette Transporter, Subfamily B

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cholesterol

Share to Gallstones

Share to ABCB4 gene

Share to Genetic Variation

Share to Mutation

Share to Norway

Source

Identifiers

PMID: 19018976
DOI: 10.1111/j.1478-3231.2008.01914.x

Genes

ABCB4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ABCB4 sequence variations in young adults with cholesterol gallstone disease.PMID 19018976Read ↗

The genetic background of gallstone formation: an update.Semantic proximity Read ↗

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.Semantic proximity Read ↗

ABCB4 gene mutation-associated cholelithiasis in adults.Semantic proximity Read ↗

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.Semantic proximity Read ↗

Heterozygous ABCB4 mutations in children with cholestatic liver disease.Semantic proximity Read ↗

Genetics of gallstone disease.Semantic proximity Read ↗

Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls.Semantic proximity Read ↗

ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.Semantic proximity Read ↗

Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood.Semantic proximity Read ↗

Identification of a new, likely pathogenic, heterozygous ABCB4 variant causing low phospholipid-associated cholelithiasis.Semantic proximity Read ↗

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

ABCB4 Gene Aberrations in Human Liver Disease: An Evolving SpectrumSemantic proximity Read ↗

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