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

TJP2 hepatobiliary disorders: Novel variants and clinical diversity.

Human mutation - 1 Feb 2020

Zhang Jing, Liu Lang-Li, Gong Jing-Yu, Hao Chen-Zhi, Qiu Yi-Ling, Lu Yi, Feng Jia-Yan, Li Jia-Qi, Li Zhong-Die, Wang Meng-Xuan, Xing Qing-He, Knisely A S, Wang Jian-She

Abstract excerpt

To assess the spectrum of pediatric clinical phenotypes in TJP2 disease, we reviewed records of our seven patients in whom intrahepatic cholestasis was associated with biallelic TJP2 variants (13; 12 novel) and correlated clinical manifestations with mutation type. The effect of a splicing variant was analyzed with a minigene assay. The effects of three missense variants were analyzed with protein expression in...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biopsy

Share to Cholestasis, Intrahepatic

Share to Computational Biology

Share to Exome Sequencing

Share to Infant, Newborn

Share to RNA Splicing

Source

Identifiers

PMID: 31696999
DOI: 10.1002/humu.23947

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TJP2 hepatobiliary disorders: Novel variants and clinical diversity.PMID 31696999Read ↗

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

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

Mutations in TJP2 , encoding zona occludens 2, and liver diseaseSemantic proximity Read ↗

Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.Semantic proximity Read ↗

Newer variants of progressive familial intrahepatic cholestasisSemantic proximity Read ↗

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.Semantic proximity Read ↗

Mutations in TJP2 cause progressive cholestatic liver disease.Semantic proximity Read ↗

A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2.Semantic proximity Read ↗

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

[Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances].Semantic proximity Read ↗

Cholestasis Due to USP53 Deficiency.Semantic proximity Read ↗

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

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