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Article

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

PloS one - 1 Jan 2014

Liu Yan, Wang Fengyu, Wu Yuan, Tan Sainan, Wen Qiaolian, Wang Jing, Zhu Xiaomei, Wang Xi, Li Congmin, Ma Xu, Pan Hong

Abstract excerpt

CITED2 was identified as a cardiac transcription factor which is essential to the heart development. Cited2-deficient mice showed cardiac malformations, adrenal agenesis and neural crest defects. To explore the potential impact of mutations in CITED2 on congenital heart disease (CHD) in humans, w...

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Source

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Identifiers

PMID: 24848765
DOI: 10.1371/journal.pone.0098157
PMCID: PMC4029912

Genes

CITED2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24848765-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Variations of CITED2 are associated with congenital heart disease (CHD) in Chinese population.PMID 24848765Read ↗

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

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

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

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

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

Identification and Functional Verification of CITED2 Gene Promoter Region in Patients with Patent Ductus ArteriosusSemantic proximity Read ↗

Missense mutations in the CITED2 gene may contribute to congenital heart disease.Semantic proximity Read ↗

The essential role of Cited2, a negative regulator for HIF-1α, in heart development and neurulationSemantic proximity Read ↗

[Mutation analysis of Cited2 in patients with congenital heart disease].Semantic proximity Read ↗

Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.Semantic proximity Read ↗

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

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