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

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.

Scientific reports - 17 Aug 2018

Li Shuolin, Liu Sida, Chen Weicheng, Yuan Yuan, Gu Ruoyi, Song Yangliu, Li Jian, Cao Yinyin, Lin Yixiang, Xu Jun, Wang Huijun, Ma Duan, Ma Xiaojing, Sheng Wei, Huang Guoying

Abstract excerpt

Heterotaxy syndrome (HTX) is characterized by left-right (LR) asymmetry disturbances associated with severe heart malformations. However, the exact genetic cause of HTX pathogenesis remains unclear. The aim of this study was to investigate the pathogenic mechanism underlying heterotaxy syndrome. Targeted next-generation sequencing (NGS) was performed for twenty-two candidate genes correlated with LR axis...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Association Studies
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Radiography, Thoracic

Share to Tomography, X-Ray Computed

Share to Transcription Factors

Share to Transcriptional Activation

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 30120289
DOI: 10.1038/s41598-018-30204-3
PMCID: PMC6098004

Genes

ZIC3

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

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.PMID 30120289Read ↗

Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.Semantic proximity Read ↗

A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.Semantic proximity Read ↗

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.Semantic proximity Read ↗

Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.Semantic proximity Read ↗

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.Semantic proximity Read ↗

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.Semantic proximity Read ↗

Rare novel variants in the ZIC3 gene cause X-linked heterotaxySemantic proximity Read ↗

Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.Semantic proximity Read ↗

CIROZ variants cause heterotaxy syndrome and is specifically expressed in GastruloidsSemantic proximity Read ↗

DNA mutation analysis in heterotaxy.Semantic proximity Read ↗

Genetic and functional analyses of ZIC3 variants in congenital heart disease.Semantic proximity Read ↗

A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.Semantic proximity Read ↗

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