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

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients.

BMC medical genetics - 7 May 2020

Mengmeng Xu, Yuejuan Xu, Sun Chen, Yanan Lu, Fen Li, Kun Sun

Abstract excerpt

BACKGROUND: Conotruncal heart defects (CTDs) are a group of congenital heart malformations that cause anomalies of cardiac outflow tracts. In the past few decades, many genes related to CTDs have been reported. Serum response factor (SRF) is a ubiquitous nuclear protein that acts as transcription factor, and SRF was found to be a critical factor in heart development and to be strongly expressed in the myocardium...

Read the complete abstract on PubMed

Topics

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

Share to Atrial Natriuretic Factor
Share to Cross-Sectional Studies
Share to GATA4 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Homeodomain Proteins

Share to Mutation, Missense

Share to Myocardium

Share to Serum Response Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 32380971
DOI: 10.1186/s12881-020-01032-y
PMCID: PMC7203814

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients.PMID 32380971Read ↗

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patientsSemantic proximity Read ↗

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patientsSemantic proximity Read ↗

Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.Semantic proximity Read ↗

Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects.Semantic proximity Read ↗

Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.Semantic proximity Read ↗

In Silico Analyses Reveal the Relationship Between SIX1/EYA1 Mutations and Conotruncal Heart Defects.Semantic proximity Read ↗

SRF: a seriously responsible factor in cardiac development and diseaseSemantic proximity Read ↗

CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese ChildrenSemantic proximity Read ↗

Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese PopulationSemantic proximity Read ↗

Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.Semantic proximity Read ↗

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

Variants in the Regulatory Region of WNT5A Reduced Risk of Cardiac Conotruncal Malformations in the Chinese Population.Semantic proximity Read ↗

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