Congenital heart defects research

This study identifies NAC and SRP as novel regulators of cardiac development and remodeling in Drosophila and human cardiac progenitors, showing their spatial and temporal regulation in heart formation.

The paper identifies KPNB1 and MYL4 as novel risk genes for congenital heart disease through GWAS, eQTL analysis, and functional validation in patient-derived cardiomyocytes.

This study identifies LRRFIP2 as a negative regulator of HIF-1 activity in cardiomyocytes, showing its role in modulating hypoxia response during embryonic heart development.

This study identifies SRSF3 as a key regulator of epicardial formation by controlling cell proliferation and revealing its interactions with cell cycle regulators through single-cell RNA-sequencing and endogenous irCLIP.

The paper identifies how CHD4/NuRD is recruited to cardiac gene loci via interactions with GATA4, NKX2-5, and TBX5, revealing its role in repressing non-cardiac gene programs during heart development.

The paper provides a complete morphological description of heart tube formation in mice, identifying regional variability and early left-right asymmetry.

This study identifies CBX7 as a repressor of cardiomyocyte proliferation by modulating the TARDBP/Rbm38 axis during the perinatal period.

This study identifies a genetic variant in TBX1 associated with congenital heart disease and shows it increases TBX1 promoter activity and risk.

The paper uses single-cell RNA sequencing to study atrial and ventricular myocardial cell differentiation, identifying lineage trajectories and effects of retinoic acid on cardiac development.

The paper shows that sustained WT1 expression impairs cardiomyocyte maturation and leads to their transformation into epicardial cells in zebrafish.

This paper identifies Cyp26b1 as a gene critical for heart valve development in mice, showing its role in restricting cell proliferation and preventing defects like ventricular septal defects.

The paper identifies distinct gene regulatory programmes in the zebrafish epicardium during development and regeneration, revealing differences from developmental programmes.

The paper identifies GPC6 as a causative gene for TOF through GWAS and mouse models, showing dose-dependent cardiac malformations.

This study uses single-cell RNA-sequencing to identify how maternal hyperglycemia affects cardiac cell-type specific gene regulation, increasing the risk of congenital heart defects.

The paper identifies Semaphorin3f as a key regulator in establishing chamber-specific differentiation in the zebrafish heart by modulating gene expression boundaries between atrial and ventricular chambers.

This study shows maternal vitamin D deficiency causes heart defects in offspring by altering 3D-chromatin structure and gene regulation across generations.

This study identifies Snhg1 as a driver of stable cardiomyocyte cytokinesis through a positive feedback loop with c-Myc, improving cardiac function after myocardial infarction.

The paper uses flow cytometry to analyze the role of Wt1 in epicardial development, finding that Wt1 is essential for formation and maintenance rather than promoting mesenchymal transition.

The paper investigates the role of nitric oxide signaling in cardiac progenitor differentiation and heart tube formation in chicken embryos using computer vision for cell counting.

This study identifies maternal iron deficiency as an environmental teratogen causing congenital heart disease in mice, with potential implications for human health.

This study identifies fstl1b as critical for cardiac development in zebrafish, showing its role in regulating sarcomere structure and contractility through modulation of BMP signaling.

The paper identifies STX18-AS1 as a lncRNA that predisposes to ASD by downregulating NKX2-5 in cardiomyocyte differentiation.

This study identifies a ubiquitin-based genetic mechanism linking Megf8 and Mgrn1 mutations to congenital heart defects and heterotaxy through altered Hedgehog signaling.

The paper investigates the effects of HIF1 deletion in cardiac progenitors, finding that it leads to impaired glycolysis and activation of an amino acid metabolic program without affecting heart development or function.

This study shows that recombinant IGF1-24 promotes cardiomyocyte proliferation and repairs myocardial injury in rats.

The paper identifies Notch signaling's role in cardiac mesoderm specification, showing it enhances cardiomyocyte differentiation while maintaining an immature state in human pluripotent stem cells.

The paper identifies differentially expressed non-coding RNAs and mRNAs in TOF heart tissue and constructs their interaction network.

The paper shows that a gain-of-function mutation in Gli3 causes ventricular septal defects by impairing PDGFR signaling, suggesting potential therapeutic targets.

The paper identifies calcium signalling defects as a novel cause of congenital heart disease through whole exome sequencing and functional validation in zebrafish.