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

New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

6 Feb 2020

Abstract excerpt

BACKGROUND: gene in adults with very variable expression of PFIC4. CASE SUMMARY: The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and beta-blockers. In 2018, he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in 2019. Genetic testing revealed a novel homozygous TJP2 variant...

Read the complete abstract on PubMed

Topics

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

Share to Barrier Structure and Function Studies
Share to Drug Transport and Resistance Mechanisms
Share to Pediatric Hepatobiliary Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32089630
DOI: 10.3748/wjg.v26.i5.550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case reportPMID 32089630Read ↗

Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation.Semantic proximity Read ↗

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

Newer variants of progressive familial intrahepatic cholestasisSemantic proximity Read ↗

[Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene].Semantic proximity Read ↗

Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.Semantic proximity Read ↗

Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis.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 ↗

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

Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.Semantic proximity Read ↗

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.Semantic proximity Read ↗

Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiencySemantic proximity Read ↗

Tight junction proteins in gastrointestinal and liver diseaseSemantic proximity Read ↗

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