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Article

CCN1 mutation is associated with atrial septal defect.

Pediatric cardiology - 1 Feb 2015

Perrot Andreas, Schmitt Katharina R, Roth Eva-Maria G, Stiller Brigitte, Posch Maximilian G, Browne Edmund N L, Timmann Christian, Horstmann Rolf D, Berger Felix, Özcelik Cemil

Abstract excerpt

The genetic basis of congenital heart disease remains unknown in most of the cases. Recently, a novel mouse model shed new light on the role of CCN1/CYR61, a matricellular regulatory factor, in cardiac morphogenesis. In a candidate gene approach, we analyzed a cohort of 143 patients with atrial septal defects (ASD) by sequencing the coding exons of CCN1. In addition to three frequent polymorphisms, we identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25135600
DOI: 10.1007/s00246-014-1001-8

Genes

CCN1

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.

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