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Article

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

PloS one - 26 May 2010

Stevens Kristen N, Hakonarson Hakon, Kim Cecilia E, Doevendans Pieter A, Koeleman Bobby P C, Mital Seema, Raue Jennifer, Glessner Joseph T, Coles John G, Moreno Victor, Granger Anne, Gruber Stephen B, Gruber Peter J

Abstract excerpt

Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role o...

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Identifiers

PMID: 20520780
DOI: 10.1371/journal.pone.0010855
PMCID: PMC2877111

Genes

ISL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20520780-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.PMID 20520780Read ↗

Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people.Semantic proximity Read ↗

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

ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population.Semantic proximity Read ↗

Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population.Semantic proximity Read ↗

[Association between two SNPs of ISL1 gene and congenital heart disease in children].Semantic proximity Read ↗

From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart DefectsSemantic proximity Read ↗

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.Semantic proximity Read ↗

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

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

Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.Semantic proximity Read ↗

Genome-wide compound heterozygosity analysis highlighted 4 novel susceptibility loci for congenital heart disease in Chinese population.Semantic proximity Read ↗

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk.Semantic proximity Read ↗

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