ArticleJournal of medical genetics2004
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.PloS one · 2013Pooled it
- NKX2-5 Mutation and ICD Implantation in a Pregnant AV Block Patient.JACC. Case reports · 2025Article
- Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.Frontiers in cardiovascular medicine · 2023Review
- Article
- Article
- Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis.Circulation research · 2020Article
- Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulateThe Journal of biological chemistry · 2020Article
- The genetics of isolated congenital heart disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Hypoplastic left heart syndrome: From bedside to bench and back.Journal of molecular and cellular cardiology · 2019Review
- Search of Somatic Mutations of NKX2-5 and GATA4 Genes in Chinese Patients with Sporadic Congenital Heart Disease.Pediatric cardiology · 2019Article
- Expanding the electrical phenotype ofHeartRhythm case reports · 2018Article
- Article
- Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.Pediatric cardiology · 2017Article
- The Dorsal Mesenchymal Protrusion and the Pathogenesis of Atrioventricular Septal Defects.Journal of cardiovascular development and disease · 2016Article
- SIRT1 deacetylates the cardiac transcription factor Nkx2.5 and inhibits its transcriptional activity.Scientific reports · 2016Article
- miR-30c regulates proliferation, apoptosis and differentiation via the Shh signaling pathway in P19 cells.Experimental & molecular medicine · 2016Article
- Review
- Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease.International journal of medical sciences · 2015Article
- Congenital heart disease: the crossroads of genetics, epigenetics and environment.Current genomics · 2014Article
- A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation.Circulation. Cardiovascular genetics · 2014Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
NKX2-5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2-5 gene mutations in cardiac malformations. Common mutations are rare in unrelated families. We analysed, by direct sequencing, the gene encoding NKX2-5 in the diseased heart tissues of 68 patients with complex congenital heart disease, focussing particularly on atrial, ventricular, and atrioventricular septal defects. We identified 35 non-synonymous NKX2-5 mutations in the diseased heart tissues of patients. These mutations were mainly absent in normal, for example, unaffected, heart tissue of the same patient, indicating the somatic nature and mosaicism of mutations. We also observed multiple mutations and multiple haplotypes, as well as mutations in Down's syndrome patients with cardiac malformations. Taken collectively, the above results suggest the somatic nature of NKX2-5 mutations associated with complex cardiac malformations. Somatic mutations in transcription factor genes of cardiac progenitor cells provide a novel mechanism of disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.