Article

Missense Mutations in the CITED2 Gene Contribute to Congenital Heart Disease

2024-03-25

Abstract excerpt

<title>Abstract</title> <p>Background Congenital heart disease (CHD) is a lifelong abnormality present from birth. Multiple studies have shown that mutations in genes involved in heart development could cause congenital heart disease. The <italic>CITED2</italic> gene works as a transcription factor in the hypoxic pathway for the development of the heart. Therefore, five CHD types, ventricular septal defect, atri...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9191467d-30b1-54c7-9195-2346b4692d0b
DOI: 10.21203/rs.3.rs-4105855/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Missense Mutations in the CITED2 Gene Contribute to Congenital Heart DiseaseDOI 10.21203/rs.3.rs-4105855/v1Read

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

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

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

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

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

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

Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.Semantic proximity Read

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

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

CHDbase: A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical ManifestationsSemantic proximity Read

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

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