ArticleCellular and molecular life sciences : CMLS2022
Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish.
Article in Cellular and molecular life sciences : CMLS, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 12 citations in OpenAlex.
- Human TBC1 domain-containing kinase is a class I multidomain pseudokinase.Protein expression and purification · 2027Article
- ALPK3 regulates cardiomyocyte apoptosis through the Notch1 signaling pathway.Molecular genetics and genomics : MGG · 2026Article
- Genetic Structure and Selective Signature Analysis of Xinjiang Local Sheep Populations.Animals : an open access journal from MDPI · 2026Article
- A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.Human genomics · 2026Article
- Suppression of brain aromatase decreases the expression of dopaminergic neuron in early development of zebrafish.Fish physiology and biochemistry · 2025Article
- Uric Acid Disrupts Heart Development in Zebrafish by Inhibiting the Wnt Signaling Pathway.Cardiovascular toxicology · 2025Article
- Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?Biology open · 2025Review
- Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.Disease models & mechanisms · 2024Article
- Preclinical Models of Cardiac Disease: A Comprehensive Overview for Clinical Scientists.Cardiovascular engineering and technology · 2024Review
- Regeneration of the heart: from molecular mechanisms to clinical therapeutics.Military Medical Research · 2023Review
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common birth defect worldwide and a main cause of perinatal and infant mortality. Our previous genome-wide association study identified 53 SNPs that associated with CHD in the Han Chinese population. Here, we performed functional screening of 27 orthologous genes in zebrafish using injection of antisense morpholino oligos. From this screen, 5 genes were identified as essential for heart development, including iqgap2, ptprt, ptpn22, tbck and maml3. Presumptive roles of the novel CHD-related genes include heart chamber formation (iqgap2 and ptprt) and atrioventricular canal formation (ptpn22 and tbck). While deficiency of maml3 led to defective cardiac trabeculation and consequent heart failure in zebrafish embryos. Furthermore, we found that maml3 mutants showed decreased cardiomyocyte proliferation which caused a reduction in cardiac trabeculae due to inhibition of Notch signaling. Together, our study identifies 5 novel CHD-related genes that are essential for heart development in zebrafish and first demonstrates that maml3 is required for Notch signaling in vivo.
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