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

Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation

9 Feb 2018

Abstract excerpt

NKX2.5, a homeobox containing gene, plays an important role in embryonic heart development and associated mutations are linked with various cardiac abnormalities. We sequenced the NKX2.5 gene in 100 congenital heart disease (CHD) patients and 200 controls. Our analysis revealed a total of 7 mutations, 3 in intronic region, 3 in coding region and 1 in 3' UTR. Of the above mutations, one mutation was found to be...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29568389
DOI: 10.18632/oncotarget.24459

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

Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutationPMID 29568389Read ↗

A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.Semantic proximity Read ↗

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.Semantic proximity Read ↗

An update on genetic variants of the NKX2-5.Semantic proximity Read ↗

A novel NKX2.6 mutation associated with congenital ventricular septal defect.Semantic proximity Read ↗

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.Semantic proximity Read ↗

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.Semantic proximity Read ↗

Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects.Semantic proximity Read ↗

Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian childrenSemantic proximity Read ↗

Nuclear Receptor-Like Structure and Interaction of Congenital Heart Disease-Associated Factors GATA4 and NKX2-5.Semantic proximity Read ↗

Novel NKX2-5 mutations responsible for congenital heart disease.Semantic proximity Read ↗

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.Semantic proximity Read ↗

Congenital heart disease caused by mutations in the transcription factor NKX2-5.Semantic proximity Read ↗

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