ReviewGenes2016
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Review in Genes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 103 citations in OpenAlex.
- Transcriptomic Insights into Micro- and Nanoplastic Toxicity in Zebrafish: A Narrative Review.Toxics · 2026Review
- Is There a Unified Etiology of Hypoplastic Left Heart Syndrome? Evaluating Genetic, Structural, and Hemodynamic Models of Disease Initiation.Pathophysiology : the official journal of the International Society for Pathophysiology · 2026Review
- Paternal sleep deprivation and cardiac dysfunction in offspring: A perspective of myocardial hypertrophy.Experimental physiology · 2026Article
- Article
- Global Evaluation of Congenital Heart Disease-Associated Non-Coding Variants.Research square · 2026Article
- Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026Review
- The prevalence of laterality defects in patients with congenital heart disease.Journal of human genetics · 2025Article
- Identification and Functional Characterization of a NovelChildren (Basel, Switzerland) · 2025Article
- The Neglected Internodal Tract-A Cardiac Conduction System Structure Homologous to the Development and Regulation of the Sinoatrial Node.Reviews in cardiovascular medicine · 2025Review
- The role(s) of NF-Y in development and differentiation.Cell death and differentiation · 2025Review
- Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.Journal of the American Heart Association · 2024Article
- Machine Learning in Identifying Marker Genes for Congenital Heart Diseases of Different Cardiac Cell Types.Life (Basel, Switzerland) · 2024Article
- Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.Children (Basel, Switzerland) · 2024Article
- Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.Italian journal of pediatrics · 2024Article
- Characterization of genomic variants associated with congenital heart disease in patients from southwestern Colombian.Heliyon · 2024Article
- Discovery and functional investigation ofAmerican journal of translational research · 2024Article
- Unraveling the mystery of oligogenic inheritance under way?Molecules and cells · 2024Article
- Single-cell genomics improves the discovery of risk variants and genes of atrial fibrillation.Nature communications · 2023Article
- Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility.Human genomics · 2023Review
- Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity.Biochimica et biophysica acta. Gene regulatory mechanisms · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation. Research over the past two decades has established firmly the role of genetics in the development of these congenital defects. While syndromic CHDs are more straightforward, non-syndromic CHDs are usually characterized by multiple mutations that affect intricate inter-connected developmental pathways. Knock-out and gene expression studies in mice and other genetic models have been performed to elucidate the roles of these implicated genes. Functional analysis has not been able to resolve the complete picture, as increasingly more downstream effects are continuously being assigned to CHD mutant factors. NKX2-5, a cardiac transcription factor, has received much attention for its role in cardiac dysmorphogenesis. Approximately 50 different mutations in this gene have been identified to date, and only a few have been functionally characterized. The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart defects and emphasizes the need for NKX2-5 mutation screening.
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Registered trials
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.