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

Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.

Journal of gastroenterology - 1 Aug 2018

Vitale Giovanni, Gitto Stefano, Raimondi Francesco, Mattiaccio Alessandro, Mantovani Vilma, Vukotic Ranka, D'Errico Antonietta, Seri Marco, Russell Robert B, Andreone Pietro

Abstract excerpt

BACKGROUND: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. AIM: As these four genes have been poorly studied in young people and adults, we investigated them in this context here. METHODS: In patients with cryptogenic cholestasis, we...

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 Cholestasis

Share to Cholestasis, Intrahepatic

Share to Elasticity Imaging Techniques

Share to Pruritus

Source

Identifiers

PMID: 29238877
DOI: 10.1007/s00535-017-1423-1

Genes

ABCB11
ABCB4
TJP2

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

Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.PMID 29238877Read ↗

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

Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.Semantic proximity Read ↗

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.Semantic proximity Read ↗

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.Semantic proximity Read ↗

Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.Semantic proximity Read ↗

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

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the LiteratureSemantic proximity Read ↗

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.Semantic proximity Read ↗

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.Semantic proximity Read ↗

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

The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.Semantic proximity Read ↗

Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4Semantic proximity Read ↗

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