ArticleGenetica2010
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
Article in Genetica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
35 citing papers in PubMed, 5 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- [Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Pooled it
- Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.Medicine · 2017Pooled it
- Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis.Pediatric cardiology · 2016Pooled it
- Establishment of Relational Model of Congenital Heart Disease Markers and GO Functional Analysis of the Association between Its Serum Markers and Susceptibility Genes.Computational and mathematical methods in medicine · 2016Pooled it
- Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.PloS one · 2013Pooled it
- A Comprehensive Review of Canine and Feline Ventricular Septal Defects-From Pathogenesis to Long-Term Follow-Up.Animals : an open access journal from MDPI · 2025Review
- Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling.Frontiers in genetics · 2024Review
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
- Relationships between Maternal Folic Acid Supplementation andNutrients · 2023Article
- Association between single-nucleotide polymorphisms ofOpen life sciences · 2022Article
- The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2021Article
- Article
- Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.The Eurasian journal of medicine · 2020Article
- Genetic Contribution to Congenital Heart Disease (CHD).Pediatric cardiology · 2020Review
- GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.Journal of clinical laboratory analysis · 2019Article
- The Functional Polymorphism R129W in theGenetic testing and molecular biomarkers · 2019Article
- A comprehensive in silico analysis, distribution and frequency of humanJournal of cardiovascular and thoracic research · 2019Article
- Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.Journal of molecular medicine (Berlin, Germany) · 2018Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of mutations in GATA4 and NKX2.5 have been identified to be causative for a subset of familial congenital heart defects (CHDs) and a small number of sporadic CHDs. In this study, we evaluated common GATA4 and NKX2.5 mutations in 135 Chinese pediatric patients with non-familial congenital heart defects. Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect. We also found 848C >A (Pro283Gln) in exon 2 of the NKX2.5 gene in a pediatric patient with ventricular septal defect, patent ductus arteriosus and aortic isthmus stenosis. None of the mutations was detected in healthy control subjects (n = 114). This study suggests that GATA4 and NKX2.5 missense mutations may be associated with congenital heart defects in pediatric Chinese patients. Further clinical studies with large samples are warranted.
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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.