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

[Analysis of familial intrahepatic cholestasis caused by ubiquitin-specific peptidase 53 gene mutation].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 May 2026

Wang H, Zheng X, Yu M M, Yu Z D, Wang Y S

Abstract excerpt

Objective: To investigate the clinical characteristics and gene mutation status of progressive familial intrahepatic cholestasis caused by a ubiquitin-specific peptidase 53 (USP53) gene mutation (USP53-FIC) in a family. Methods: A female infant patient with USP53-FIC and her family who presented to the Department of Gastroenterology, Children's Hospital Affiliated with Zhengzhou University, in May 2025 with a...

Read the complete abstract on PubMed

Topics

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

Share to Cholestasis, Intrahepatic
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Pedigree

Share to Ubiquitin-Specific Proteases

Source

Open in PubMed Open full text

Identifiers

PMID: 42209164
DOI: 10.3760/cma.j.cn501113-20250902-00360
PMCID: PMC13223762

Genes

USP53

Variants

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

[Analysis of familial intrahepatic cholestasis caused by ubiquitin-specific peptidase 53 gene mutation].PMID 42209164Read ↗

Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature.Semantic proximity Read ↗

Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the LiteratureSemantic proximity Read ↗

The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.Semantic proximity Read ↗

Natural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.Semantic proximity Read ↗

A Novel Homozygous USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the LiteratureSemantic proximity Read ↗

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.Semantic proximity Read ↗

Cholestasis Due to USP53 Deficiency.Semantic proximity Read ↗

Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.Semantic proximity Read ↗

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

A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.Semantic proximity Read ↗

Progressive Familial Intrahepatic Cholestasis Associated With Ubiquitin-Specific Peptidase 53 Gene Variant Presented with Acute-on-Chronic Liver Failure in Turkish Siblings.Semantic proximity Read ↗

[Analysis of clinical characteristic of children with progressive familial intrahepatic cholestasis type 3].Semantic proximity Read ↗

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