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

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

Journal of medical genetics - 1 Aug 2021

Luan Weisha, Hao Chen-Zhi, Li Jia-Qi, Wei Qing, Gong Jing-Yu, Qiu Yi-Ling, Lu Yi, Shen Cong-Huan, Xia Qiang, Xie Xin-Bao, Zhang Mei-Hong, Abuduxikuer Kuerbanjiang, Li Zhong-Die, Wang Li, Xing Qing-He, Knisely A S, Wang Jian-She

Abstract excerpt

BACKGROUND: For many children with intrahepatic cholestasis and high-serum gamma-glutamyl transferase (GGT) activity, a genetic aetiology of hepatobiliary disease remains undefined. We sought to identify novel genes mutated in children with idiopathic high-GGT intrahepatic cholestasis, with clinical, histopathological and functional correlations. METHODS: We assembled a cohort of 25 children with undiagnosed...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line, Tumor
Share to Cholangitis, Sclerosing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Exome Sequencing

Share to Genetic Diseases, Inborn

Share to HeLa Cells

Share to Liver Cirrhosis

Share to Oncogene Proteins

Source

Identifiers

PMID: 32737136
DOI: 10.1136/jmedgenet-2019-106706

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

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.PMID 32737136Read ↗

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.Semantic proximity Read ↗

ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell deathSemantic proximity Read ↗

Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19mutation.Semantic proximity Read ↗

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresiaSemantic proximity Read ↗

What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.Semantic proximity Read ↗

Primary Cilia in Hepatic Biliary Hyperplasia: Implications for Liver Diseases.Semantic proximity Read ↗

Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase CholestasisSemantic proximity Read ↗

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.Semantic proximity Read ↗

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.Semantic proximity Read ↗

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansSemantic proximity Read ↗

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

Genetic contributors and modifiers of biliary atresia.Semantic proximity Read ↗

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