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

MEF2C loss-of-function mutation contributes to congenital heart defects.

International journal of medical sciences - 1 Jan 2017

Qiao Xiao-Hui, Wang Fei, Zhang Xian-Ling, Huang Ri-Tai, Xue Song, Wang Juan, Qiu Xing-Biao, Liu Xing-Yuan, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. Nevertheless, CHD is of pronounced genetic...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to GATA4 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heterozygote

Share to Infant

Share to Infant, Newborn

Share to MEF2 Transcription Factors

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 29104469
DOI: 10.7150/ijms.21353
PMCID: PMC5666546

Genes

GATA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MEF2C loss-of-function mutation contributes to congenital heart defects.PMID 29104469Read ↗

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.Semantic proximity Read ↗

A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.Semantic proximity Read ↗

Genetics of Congenital Heart Disease.Semantic proximity Read ↗

MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy.Semantic proximity Read ↗

Novel PITX2c loss-of-function mutations associated with complex congenital heart disease.Semantic proximity Read ↗

From genes to therapy: A comprehensive exploration of congenital heart disease through the lens of genetics and emerging technologies.Semantic proximity Read ↗

KLF13 loss-of-function variation contributes to familial congenital heart defects.Semantic proximity Read ↗

Molecular genetics of congenital heart disease.Semantic proximity Read ↗

A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.Semantic proximity Read ↗

Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical ManagementSemantic proximity Read ↗

Molecular genetic mechanisms of congenital heart disease.Semantic proximity Read ↗

Complex genetics and the etiology of human congenital heart disease.Semantic proximity Read ↗

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