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

Two novel mutations of the IRX4 gene in patients with congenital heart disease.

Human genetics - 1 Nov 2011

Cheng Zhi, Wang Jing, Su Dongmei, Pan Hong, Huang Guoying, Li Xiaotian, Li Zhongzhi, Shen Adong, Xie Xiaodong, Wang Binbin, Ma Xu

Abstract excerpt

IRX4 was the first identified cardiac transcription factor that is restricted to the ventricles at all stages of heart development. Irx4-deficient mice show ventricular dysfunction and develop cardiomyopathy. To study the potential impact of sequence variations in IRX4 on congenital heart disease (CHD) in humans, we examined the coding region of IRX4 in a cohort of 698 Chinese people with congenital heart disease...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Heart Defects, Congenital

Share to Homeodomain Proteins

Share to Infant

Share to Retinoid X Receptors

Source

Identifiers

PMID: 21544582
DOI: 10.1007/s00439-011-0996-7

Genes

IRX4
RXRA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations of the IRX4 gene in patients with congenital heart disease.PMID 21544582Read ↗

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart DiseaseSemantic proximity Read ↗

Synonymous variants in IRX4 and their association with congenital heart disease: an in-silico functional assessment.Semantic proximity Read ↗

Association of IRX4 synonymous variants with congenital heart disease: Leveraging in-silico approaches to predict the functional impactSemantic proximity Read ↗

Genetic analysis of the Irx4 gene in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Exome sequencing reveals novel IRXI mutation in congenital heart disease.Semantic proximity Read ↗

Identification of functional mutations in GATA4 in patients with congenital heart disease.Semantic proximity Read ↗

GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy.Semantic proximity Read ↗

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Semantic proximity Read ↗

Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart diseaseSemantic proximity Read ↗

<i>Iroquois</i> Homeodomain Transcription Factors in Heart Development and FunctionSemantic proximity Read ↗

Characterization of soluble N-ethylmaleimide-sensitive factor attachment protein receptor gene STX18 variations for possible roles in congenital heart diseases.Semantic proximity Read ↗

GATA4 mutations in Chinese patients with congenital cardiac septal defects.Semantic proximity Read ↗

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