A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.

doi:10.1093/eurjhf/hfs178

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

Community

Back to search

Article

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.

European journal of heart failure - 1 Mar 2013

Friedrich Felix W, Dilanian Gilles, Khattar Patricia, Juhr Denise, Gueneau Lucie, Charron Philippe, Fressart Véronique, Vilquin Jean-Thomas, Isnard Richard, Gouya Laurent, Richard Pascale, Hammoudi Naima, Komajda Michel, Bonne Gisèle, Eschenhagen Thomas, Dubourg Olivier, Villard Eric, Carrier Lucie

Abstract excerpt

AIMS: The transcription factor Islet-1 (ISL1) is a marker of cardiovascular progenitors and is essential for mammalian cardiogenesis. An ISL1 haplotype has recently been associated with congenital heart disease. In this study we evaluated whether ISL1 variants are associated with hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), or with Emery-Dreifuss muscular dystrophy...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Gene Transfer Techniques

Share to LIM-Homeodomain Proteins

Share to MADS Domain Proteins

Share to MEF2 Transcription Factors

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Myogenic Regulatory Factors

Source

Open in PubMed

Identifiers

PMID: 23152444
DOI: 10.1093/eurjhf/hfs178

Genes

ISL1
MYH7

Variants

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

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.PMID 23152444Read ↗

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.Semantic proximity Read ↗

Identification of variants of ISL1 gene promoter and cellular functions in isolated ventricular septal defects.Semantic proximity Read ↗

HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy.Semantic proximity Read ↗

Affinity-optimizing variants within cardiac enhancers disrupt heart development and contribute to cardiac traitsSemantic proximity Read ↗

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.Semantic proximity Read ↗

Genetic Variants of ISL1 Gene Promoter Identified from Congenital Tetralogy of Fallot Patients Alter Cellular Function Forming Disease BasisSemantic proximity Read ↗

Correlations between ISL1 rs1017 polymorphism and congenital heart disease risk: A PRISMA-compliant meta-analysis.Semantic proximity Read ↗

MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy.Semantic proximity Read ↗

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in miceSemantic proximity Read ↗

Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoterSemantic proximity Read ↗

A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset HyperinsulinismSemantic proximity Read ↗

The cardiac pacemaker-specific channel Hcn4 is a direct transcriptional target of MEF2.Semantic proximity Read ↗

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