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

Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.

International journal of environmental research and public health - 11 Aug 2022

Nazeer Nadeem Ul, Bhat Mohammad Akbar, Rah Bilal, Bhat Gh Rasool, Wani Shadil Ibrahim, Yousuf Adfar, Dar Abdul Majeed, Afroze Dil

Abstract excerpt

(1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 (NKX2-5) and actin alpha cardiac muscle1 (ACTC1) genes play a key role in CHDs such as atrial and ventricular septum defects. Therefore, the present...

Read the complete abstract on PubMed

Topics

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

Share to Actins
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects

Share to Heart Septal Defects, Ventricular

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 36011517
DOI: 10.3390/ijerph19169884
PMCID: PMC9408331

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

Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.PMID 36011517Read ↗

Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease.Semantic proximity Read ↗

Single-nucleotide polymorphisms of NKX2.5 found in congenital heart disease patients of Mysore, South India.Semantic proximity Read ↗

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)Semantic proximity Read ↗

NKX2-5 variants screening in patients with atrial septal defect in IndonesiaSemantic proximity Read ↗

Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.Semantic proximity Read ↗

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

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

Novel Point Mutation in the Cardiac Transcription Factor CSX/NKX2.5 Associated With Congenital Heart Disease.Semantic proximity Read ↗

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

Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD).Semantic proximity Read ↗

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.Semantic proximity Read ↗

Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.Semantic proximity Read ↗

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