ArticleAmerican journal of human genetics2002
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
63 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.PloS one · 2019Pooled it
- Pooled it
- Anaesthetic management of a paediatric patient with situs inversus totalis and congenitally corrected transposition of the great arteries undergoing adenotonsillectomy.BMJ case reports · 2026Article
- Identification of circular RNA hsa-PHACTR4_0009 as a new class of biomarker for transposition of the great arteries.Journal of molecular and cellular cardiology plus · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Syndromic variants of biliary atresia.World journal of pediatric surgery · 2025Review
- Pathogenesis and Surgical Treatment of Congenitally Corrected Transposition of the Great Arteries (ccTGA): Part III.Journal of clinical medicine · 2024Review
- Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.Journal of clinical medicine · 2024Review
- Case Report: An unusual case of a transposition of the great arteries with a double aortic arch: a highly complex fetal diagnosis with an unpredictable outcome.Frontiers in cardiovascular medicine · 2024Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- TGF-β signaling in health and disease.Cell · 2023Review
- A pangenome reference of 36 Chinese populations.Nature · 2023Article
- Double outlet right ventricle.Frontiers in pediatrics · 2023Review
- Delving into the Molecular World of Single Ventricle Congenital Heart Disease.Current cardiology reports · 2022Review
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circulation research · 2022Article
- Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Translational pediatrics · 2021Review
- Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect.Journal of cardiovascular translational research · 2021Review
- Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.Journal of the American Heart Association · 2021Review
- Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy.Ultrasound (Leeds, England) · 2019Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great arteries and double-outlet right ventricle, in the absence of laterality defects---would also have CFC1 mutations. Our analysis of the CFC1 gene in patients with these cardiac disorders identified two disease-related mutations in 86 patients. The present study identifies the first autosomal single-gene defect for these cardiac malformations and indicates that some cases of transposition of the great arteries and double-outlet right ventricle can share a common genetic etiology with heterotaxy syndrome. In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development.
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