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

Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block.

Molecular medicine reports - 1 Apr 2017

Xu Ying-Jia, Qiu Xing-Biao, Yuan Fang, Shi Hong-Yu, Xu Lei, Hou Xu-Min, Qu Xin-Kai, Liu Xu, Huang Ri-Tai, Xue Song, Yang Yi-Qing, Li Ruo-Gu

Abstract excerpt

Congenital atrial septal defect (ASD) and progressive atriventricular block (AVB) are the two most common phenotypes linked to NK2 homeobox 5 (NKX2.5) mutations in animals and humans. However, the prevalence and spectrum of NKX2.5 mutation in patients with ASD and AVB remain to be elucidated. In the present study, the coding exons and flanking introns of the NKX2.5 gene, which encodes a homeobox‑containing...

Read the complete abstract on PubMed

Topics

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

Share to Atrioventricular Block
Share to Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to GATA4 Transcription Factor

Share to Heart Septal Defects, Atrial

Share to Homeobox Protein Nkx-2.5

Share to Sequence Alignment

Share to Young Adult

Source

Identifiers

PMID: 28259982
DOI: 10.3892/mmr.2017.6249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block.PMID 28259982Read ↗

Novel NKX2-5 mutations in patients with familial atrial septal defects.Semantic proximity Read ↗

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.Semantic proximity Read ↗

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.Semantic proximity Read ↗

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

A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation.Semantic proximity Read ↗

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.Semantic proximity Read ↗

Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.Semantic proximity Read ↗

Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation.Semantic proximity Read ↗

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

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.Semantic proximity Read ↗

A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.Semantic proximity Read ↗

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerSemantic proximity Read ↗

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