ArticleBMC medical genomics2011
Gene expression in cardiac tissues from infants with idiopathic conotruncal defects.
Article in BMC medical genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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
37 citing papers in PubMed, 118 citations in OpenAlex.
- Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.PloS one · 2014Trial
- RASSF1A and its epigenetic dysregulation in genitourinary cancer: a current update.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Recognizing Cyanotic Congenital Heart Disease Masked by Infant Pneumonia in a Resource-Limited Setting: A Somali Case Report of Tetralogy of Fallot.International medical case reports journal · 2026Article
- Transcriptome studies of congenital heart diseases: identifying current gaps and therapeutic frontiers.Frontiers in genetics · 2023Review
- Novel hub genes and regulatory network related to ferroptosis in tetralogy of Fallot.Frontiers in pediatrics · 2023Article
- RNA expression profiles and regulatory networks in human right ventricular hypertrophy due to high pressure load.iScience · 2021Article
- A Functional Variant Rs492554 Associated With Congenital Heart Defects ModulatesFrontiers in cell and developmental biology · 2021Article
- Article
- Constitutive Musashi1 expression impairs mouse postnatal development and intestinal homeostasis.Molecular biology of the cell · 2021Article
- Dysregulation of Notch signaling in cardiac mesenchymal cells of patients with tetralogy of Fallot.Pediatric research · 2020Article
- Identification of miRNA-mRNA-TFs Regulatory Network and Crucial Pathways Involved in Tetralogy of Fallot.Frontiers in genetics · 2020Article
- Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study.Environmental science and pollution research international · 2019Article
- DNA methylation status of TBX20 in patients with tetralogy of Fallot.BMC medical genomics · 2019Article
- Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.Circulation research · 2019Article
- Article
- Potential association of long noncoding RNA HA117 with tetralogy of Fallot.Genes & diseases · 2018Article
- The Role of scaRNAs in Adjusting Alternative mRNA Splicing in Heart Development.Journal of cardiovascular development and disease · 2018Review
- Biology and clinical relevance of noncoding sno/scaRNAs.Trends in cardiovascular medicine · 2018Review
- Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.Oncotarget · 2017Article
- Microarray analysis reveals key genes and pathways in Tetralogy of Fallot.Molecular medicine reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTetralogy of Fallot (TOF) is the most commonly observed conotruncal congenital heart defect. Treatment of these patients has evolved dramatically in the last few decades, yet a genetic explanation is lacking for the failure of cardiac development for the majority of children with TOF. Our goal was to perform genome wide analyses and characterize expression patterns in cardiovascular tissue (right ventricle, pulmonary valve and pulmonary artery) obtained at the time of reconstructive surgery from 19 children with tetralogy of Fallot.
methodsWe employed genome wide gene expression microarrays to characterize cardiovascular tissue (right ventricle, pulmonary valve and pulmonary artery) obtained at the time of reconstructive surgery from 19 children with TOF (16 idiopathic and three with 22q11.2 deletions) and compared gene expression patterns to normally developing subjects.
resultsWe detected a signal from approximately 26,000 probes reflecting expression from about half of all genes, ranging from 35% to 49% of array probes in the three tissues. More than 1,000 genes had a 2-fold change in expression in the right ventricle (RV) of children with TOF as compared to the RV from matched control infants. Most of these genes were involved in compensatory functions (e.g., hypertrophy, cardiac fibrosis and cardiac dilation). However, two canonical pathways involved in spatial and temporal cell differentiation (WNT, p = 0.017 and Notch, p = 0.003) appeared to be generally suppressed.
conclusionsThe suppression of developmental networks may represent a remnant of a broad malfunction of regulatory pathways leading to inaccurate boundary formation and improper structural development in the embryonic heart. We suggest that small tissue specific genomic and/or epigenetic fluctuations could be cumulative, leading to regulatory network disruption and failure of proper cardiac development.
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.