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

Update on progressive familial intrahepatic cholestasis.

Journal of pediatric gastroenterology and nutrition - 1 Mar 2008

Alissa Feras T, Jaffe Ronald, Shneider Benjamin L

Abstract excerpt

Three distinct forms of familial intrahepatic cholestasis are the result of mutations in the ATP8B1, ABCB11, and ABCB4 genes. The pathophysiologies of the latter 2 of these diseases are well characterized and are the result of abnormalities in canalicular excretion of bile acids and phospholipids, respectively. The molecular pathophysiology of the systemic disease associated with mutations in ATP8B1 remains...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to ATP Binding Cassette Transporter, Subfamily B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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

Share to ATP-Binding Cassette Transporters

Share to Cholestasis, Intrahepatic

Share to Genes, Reporter

Share to Pedigree

Share to Prognosis

Source

Identifiers

PMID: 18376240
DOI: 10.1097/MPG.0b013e3181596060

Genes

ABCB11
ABCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Update on progressive familial intrahepatic cholestasis.PMID 18376240Read ↗

The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.Semantic proximity Read ↗

A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular TransportersSemantic proximity Read ↗

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.Semantic proximity Read ↗

Progressive familial intrahepatic cholestasis type 1.Semantic proximity Read ↗

Progressive familial intrahepatic cholestasisSemantic proximity Read ↗

Progressive familial intrahepatic cholestasis.Semantic proximity Read ↗

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical ImplicationsSemantic proximity Read ↗

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.Semantic proximity Read ↗

Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.Semantic proximity Read ↗

A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1.Semantic proximity Read ↗

ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.Semantic proximity Read ↗

Molecular overview of progressive familial intrahepatic cholestasis.Semantic proximity Read ↗

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