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Article

Functional significance of SRJ domain mutations in CITED2.

PloS one - 1 Jan 2012

Chen Chiann-mun, Bentham Jamie, Cosgrove Catherine, Braganca Jose, Cuenda Ana, Bamforth Simon D, Schneider Jürgen E, Watkins Hugh, Keavney Bernard, Davies Benjamin, Bhattacharya Shoumo

Abstract excerpt

CITED2 is a transcriptional co-activator with 3 conserved domains shared with other CITED family members and a unique Serine-Glycine Rich Junction (SRJ) that is highly conserved in placental mammals. Loss of Cited2 in mice results in cardiac and aortic arch malformations, adrenal agenesis, neural tube and placental defects, and partially penetrant defects in left-right patterning. By screening 1126 sporadic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23082118
DOI: 10.1371/journal.pone.0046256
PMCID: PMC3474824

Genes

CITED2
MAPK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional significance of SRJ domain mutations in CITED2.PMID 23082118Read ↗

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.Semantic proximity Read ↗

Functional Analyses of a Novel CITED2 Nonsynonymous Mutation in Chinese Tibetan Patients with Congenital Heart Disease.Semantic proximity Read ↗

Variations of CITED2 are associated with congenital heart disease (CHD) in Chinese population.Semantic proximity Read ↗

CITED2 mutation links congenital heart defects to dysregulation of the cardiac gene VEGF and PITX2C expressionSemantic proximity Read ↗

Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.Semantic proximity Read ↗

CITED2 mutation and methylation in children with congenital heart disease.Semantic proximity Read ↗

Missense Mutations in the CITED2 Gene Contribute to Congenital Heart DiseaseSemantic proximity Read ↗

Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSemantic proximity Read ↗

CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese ChildrenSemantic proximity Read ↗

<i>Cited1</i> Is Required in Trophoblasts for Placental Development and for Embryo Growth and SurvivalSemantic proximity Read ↗

Novel Point Mutations of CITED2 Gene Are Associated with Non-familial Congenital Heart Disease (CHD) in Sporadic Pediatric PatientsSemantic proximity Read ↗

CITED2 mutations potentially cause idiopathic premature ovarian failure.Semantic proximity Read ↗

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