ArticlePloS one2012
Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 34 citations in OpenAlex.
- Aberrant PCM1 accumulation in Trisomy 21 mislocalizes E3 ligases, delaying primary ciliogenesis.bioRxiv : the preprint server for biology · 2026Article
- Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.Genetic epidemiology · 2025Article
- Molecular Pathways and Animal Models of Atrioventricular Septal Defect.Advances in experimental medicine and biology · 2024Review
- Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss.American journal of physiology. Lung cellular and molecular physiology · 2023Article
- Trisomy 21 increases microtubules and disrupts centriolar satellite localization.Molecular biology of the cell · 2022Article
- Gene-Interaction-Sensitive enrichment analysis in congenital heart disease.BioData mining · 2022Article
- Congenital heart defects among Down's syndrome cases: an updated review from basic research to an emerging diagnostics technology and genetic counselling.Journal of genetics · 2021Review
- Opportunities, barriers, and recommendations in down syndrome research.Translational science of rare diseases · 2021Article
- Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.Scientific reports · 2020Article
- mitoXplorer, a visual data mining platform to systematically analyze and visualize mitochondrial expression dynamics and mutations.Nucleic acids research · 2020Article
- Molecular mechanisms of congenital heart disease in down syndrome.Genes & diseases · 2019Review
- Mature miR-99a Upregulation in the Amniotic Fluid Samples from Female Fetus Down Syndrome Pregnancies: A Pilot Study.Medicina (Kaunas, Lithuania) · 2019Article
- Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.Frontiers in genetics · 2019Article
- Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project.American journal on intellectual and developmental disabilities · 2018Article
- Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.Journal of cardiovascular development and disease · 2018Review
- The Dorsal Mesenchymal Protrusion and the Pathogenesis of Atrioventricular Septal Defects.Journal of cardiovascular development and disease · 2016Article
- Systematic Tracking of Disrupted Modules Identifies Altered Pathways Associated with Congenital Heart Defects in Down Syndrome.Medical science monitor : international medical journal of experimental and clinical research · 2015Article
- Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.G3 (Bethesda, Md.) · 2015Article
- Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Echocardiography in children with Down syndrome.World journal of clinical pediatrics · 2013Review
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were established from lymphocytes of individuals with trisomy 21, the chromosomal abnormality causing Down syndrome. Gene expression profiles generated from DNA microarrays of LCLs from individuals without heart defects (CHD(-); n = 22) were compared with those of LCLs from patients with cardiac malformations (CHD(+); n = 21). After quantile normalization, principal component analysis revealed that AVSD carriers could be distinguished from a combined group of ASD or VSD (ASD+VSD) carriers. From 9,758 expressed genes, we identified 889 and 1,016 genes differentially expressed between CHD(-) and AVSD and CHD(-) and ASD+VSD, respectively, with only 119 genes in common. A specific chromosomal enrichment was found in each group of affected genes. Among the differentially expressed genes, more than 65% are expressed in human or mouse fetal heart tissues (GEO dataset). Additional LCLs from new groups of AVSD and ASD+VSD patients were analyzed by quantitative PCR; observed expression ratios were similar to microarray results. Analysis of GO categories revealed enrichment of genes from pathways regulating clathrin-mediated endocytosis in patients with AVSD and of genes involved in semaphorin-plexin-driven cardiogenesis and the formation of cytoplasmic microtubules in patients with ASD-VSD. A pathway-oriented search revealed enrichment in the ciliome for both groups and a specific enrichment in Hedgehog and Jak-stat pathways among ASD+VSD patients. These genes or related pathways are therefore potentially involved in normal cardiogenesis as well as in cardiac malformations observed in individuals with trisomy 21.
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