ArticlePediatric cardiology2011
Novel NKX2-5 mutations in patients with familial atrial septal defects.
Article in Pediatric cardiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 27 citations in OpenAlex.
- The Data Distillery: A Graph Framework for Semantic Integration and Querying of Biomedical Data.bioRxiv : the preprint server for biology · 2025Article
- Effects of atrial septal defects on the cardiac conduction system.World journal of clinical cases · 2024Article
- Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.Frontiers in cardiovascular medicine · 2023Review
- Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.BMC pediatrics · 2022Article
- A comprehensive in silico analysis, distribution and frequency of humanJournal of cardiovascular and thoracic research · 2019Article
- The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.Cardiovascular research · 2017Article
- NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.Anatolian journal of cardiology · 2017Article
- Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.Congenital heart disease · 2016Review
- Review
- Mouse Model of Human Congenital Heart Disease: Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation.Circulation. Arrhythmia and electrophysiology · 2015Article
- 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
- Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.American journal of medical genetics. Part A · 2014Article
- Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.International journal of medical sciences · 2014Article
- Preconceptual Folic Acid Use and Recurrence Risk Counseling for Congenital Heart Disease.Congenital heart diseaseArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atrial septal defect (ASD) is a common cardiovascular malformation and an important contributor to substantial morbidity and mortality. Increasing evidence demonstrates that mutated NKX2-5, a gene encoding a homeobox transcription factor crucial to cardiogenesis, is a significant genetic determinant for congenital ASD. Nevertheless, the genetic basis for ASD in a majority of ASD patients remains largely unknown. In the current study, the entire coding region of NKX2-5 was sequenced initially for 58 unrelated probands with familial ASD. The relatives of the probands harboring identified mutations and 200 unrelated control individuals were subsequently genotyped. Three novel heterozygous NKX2-5 mutations (p.P43GfsX59, p.C46 W, and p.S179F) were identified respectively in three families with autosomal dominantly inherited ASD. These mutations, absent in 200 control individuals, cosegregated with ASD in the families that had complete penetrance. The findings expand the spectrum of mutations in NKX2-5 linked to ASD and contribute to genetic counseling, clinical interventions, and prenatal prevention of ASD for individuals with genetic susceptibility.
Indexed as
Identifiers
What OpenQuestion holds
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.