ArticlePloS one2014
Variations of CITED2 are associated with congenital heart disease (CHD) in Chinese population.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- CITED Proteins in Cardiac Development and Lifelong Heart Function.Journal of personalized medicine · 2025Review
- Missense mutations in the CITED2 gene may contribute to congenital heart disease.BMC cardiovascular disorders · 2024Article
- Cited2 is a key regulator of placental development and plasticity.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Review
- Dysregulation of CITED2 in abnormal lung development in the nitrofen rat model.Pediatric surgery international · 2024Article
- Genetic Variants ofJournal of cardiovascular development and disease · 2022Article
- Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.Journal of cellular and molecular medicine · 2021Article
- CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.Database : the journal of biological databases and curation · 2020Article
- Exogenous WNT5A and WNT11 proteins rescue CITED2 dysfunction in mouse embryonic stem cells and zebrafish morphants.Cell death & disease · 2019Article
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.Omics : a journal of integrative biology · 2018Review
- Functional Analyses of a Novel CITED2 Nonsynonymous Mutation in Chinese Tibetan Patients with Congenital Heart Disease.Pediatric cardiology · 2017Article
- Article
- A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases.The American journal of surgical pathology · 2016Article
- FGFR2 mutation in 46,XY sex reversal with craniosynostosis.Human molecular genetics · 2015Article
- PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.PloS one · 2015Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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, we screened the coding region of CITED2 in a total of 700 Chinese people with congenital heart disease and 250 healthy individuals as controls. We found five potential disease-causing mutations, p.P140S, p.S183L, p.S196G, p.Ser161delAGC and p. Ser192_Gly193delAGCGGC. Two mammalian two-hybrid assays showed that the last four mutations significantly affected the interaction between p300CH1 and CITED2 or HIF1A. Further studies showed that four CITED2 mutations recovered the promoter activity of VEGF by decreasing its competitiveness with HIF1A for binding to p300CH1 and three mutations decreased the consociation of TFAP2C and CITED2 in the transactivation of PITX2C. Both VEGF and PITX2C play very important roles in cardiac development. In conclusion, we demonstrated that CITED2 has a potential causative impact on congenital heart disease.
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