ArticleHuman molecular genetics2019
Model system identification of novel congenital heart disease gene candidates: focus on RPL13.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- A machine learning classifier to identify and prioritise genes associated with murine cardiac development.PLoS genetics · 2026Article
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- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- The role of NRF2 function and regulation in atherosclerosis: an update.Molecular and cellular biochemistry · 2025Review
- Mendelian randomization provides a multi-omics perspective on the regulation of genes involved in ribosome biogenesis in relation to cardiac structure and function.Clinical epigenetics · 2025Article
- Global, regional, and national epidemiology of congenital heart disease in children from 1990 to 2021.Frontiers in cardiovascular medicine · 2025Article
- Prenyl diphosphate synthase subunit 2 is downregulated in abdominal aortic aneurysm and retards the progression of abdominal aortic aneurysm.CytoJournal · 2024Article
- Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells.Advances in experimental medicine and biology · 2024Article
- Current genetic models for studying congenital heart diseases: Advantages and disadvantages.Bioinformation · 2024Article
- Quantitative proteomic profiling identifies global protein network dynamics in murine embryonic heart development.Developmental cell · 2023Article
- Induced Pluripotent Stem Cell-Based Modeling of Single-Ventricle Congenital Heart Diseases.Current cardiology reports · 2023Review
- The opportunities and challenges of usingFrontiers in physiology · 2023Article
- Article
- The Autosomal Short Tandem Repeat Polymorphisms Are Potentially Associated with Cardiovascular Disease Predisposition in the Latin American Population: A Mini Review.BioMed research international · 2023Review
- Transcriptome studies of congenital heart diseases: identifying current gaps and therapeutic frontiers.Frontiers in genetics · 2023Review
- Nascent polypeptide-Associated Complex and Signal Recognition Particle have cardiac-specific roles in heart development and remodeling.PLoS genetics · 2022Article
- Review
- VarSAn: associating pathways with a set of genomic variants using network analysis.Nucleic acids research · 2021Article
- Sequence variation, common tissue expression patterns and learning models: a genome-wide survey of vertebrate ribosomal proteins.NAR genomics and bioinformatics · 2020Article
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
Genetics is a significant factor contributing to congenital heart disease (CHD), but our understanding of the genetic players and networks involved in CHD pathogenesis is limited. Here, we searched for de novo copy number variations (CNVs) in a cohort of 167 CHD patients to identify DNA segments containing potential pathogenic genes. Our search focused on new candidate disease genes within 19 deleted de novo CNVs, which did not cover known CHD genes. For this study, we developed an integrated high-throughput phenotypical platform to probe for defects in cardiogenesis and cardiac output in human induced pluripotent stem cell (iPSC)-derived multipotent cardiac progenitor (MCPs) cells and, in parallel, in the Drosophila in vivo heart model. Notably, knockdown (KD) in MCPs of RPL13, a ribosomal gene and SON, an RNA splicing cofactor, reduced proliferation and differentiation of cardiomyocytes, while increasing fibroblasts. In the fly, heart-specific RpL13 KD, predominantly at embryonic stages, resulted in a striking 'no heart' phenotype. KD of Son and Pdss2, among others, caused structural and functional defects, including reduced or abolished contractility, respectively. In summary, using a combination of human genetics and cardiac model systems, we identified new genes as candidates for causing human CHD, with particular emphasis on ribosomal genes, such as RPL13. This powerful, novel approach of combining cardiac phenotyping in human MCPs and in the in vivo Drosophila heart at high throughput will allow for testing large numbers of CHD candidates, based on patient genomic data, and for building upon existing genetic networks involved in heart development and disease.
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