Congenital heart defects research

Cardiac function modulates endocardial cell dynamics to shape the cardiac outflow tract

The paper shows that cardiac function affects endocardial cell dynamics, which in turn shape the cardiac outflow tract in zebrafish.

SCAR FORMATION AND DECREASED CARDIAC FUNCTION FOLLOWING ISCHEMIA/REPERFUSION INJURY IN 1-MONTH-OLD SWINE

This study shows that 1-month-old pigs subjected to ischemia/reperfusion injury form a scar and do not regenerate myocardium despite cardiomyocyte cycling.

Defined factors to reactivate cell cycle activity in adult mouse cardiomyocytes

This study identifies factors that reactivate cell cycle activity in adult mouse cardiomyocytes, revealing a functional interaction between E2f2 and Bex1/Tceal8 proteins.

Systems genetics analysis identify calcium signalling defects as novel cause of congenital heart disease

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

Glucose metabolism promotes neonatal heart regeneration

This study shows that glucose metabolism enhances neonatal heart regeneration by increasing glucose uptake, glycogen storage, and cardiomyocyte proliferation in mice.

Cardiac valve regeneration in adult zebrafish: importance of TGF-β signaling in new tissue formation

This study shows adult zebrafish can regenerate cardiac valves after decellularization, with TGF-β signaling promoting this process by enhancing progenitor cell proliferation and differentiation.

Transient Nodal signalling in left precursors coordinates opposed asymmetries shaping the heart loop

This study shows Nodal transiently coordinates left-right asymmetries in mouse heart development through a heart-specific random generator, amplifying asymmetry to generate a robust helical shape.

Sarcomeres regulate cardiomyocyte maturation through MRTF-SRF signaling

This study shows that sarcomere assembly via ACTN2 and MRTF-SRF signaling promotes cardiomyocyte maturation through a positive feedback loop.

Single-Cell RNA-Seq Reveals Endocardial Defect in Hypoplastic Left Heart Syndrome

This study uses single-cell RNA sequencing to identify endocardial defects in hypoplastic left heart syndrome, linking them to abnormal valve and septum development.

In vivo CRISPR screening identifies RNF20/40 as epigenetic regulators of cardiomyocyte maturation

Mechanically activated Piezo channels control outflow tract valve development through Yap1 and Klf2-Notch signaling axis

This study identifies Piezo channels as central to OFT valve development by regulating Yap1, Klf2, and Notch signaling in response to mechanical forces in zebrafish.

Single-cell transcriptomic landscape of cardiac neural crest cell derivatives during embryonic and neonatal development

The paper characterizes CNCC derivatives' transcriptomic states and lineage transitions during development, identifying new subpopulations and molecular signatures.

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

This study shows that inhibiting Notch signaling rescues cardiovascular defects in zebrafish with Kmt2d mutations, linking Kmt2d to vasculogenesis in Kabuki Syndrome.

In vitro and in vivo roles of glucocorticoid and vitamin D receptors in the control of cardiomyocyte proliferative potential

The paper investigates the roles of glucocorticoid and vitamin D receptors in cardiomyocyte proliferation, finding that while they inhibit proliferation in vitro, they are not essential for cell-cycle exit in vivo.

Sox17 expression in endocardium precursor cells regulates heart development in mice

This study shows that Sox17 expression in cardiac progenitor cells biases their fate toward the endocardium and regulates myocardium development through NOTCH signaling in mice.

Transcriptional control of cardiac neural crest cells condensation and outflow tract septation by the Smad1/5/8 inhibitor Dullard

The paper investigates how BMP signaling, through the Smad1/5/8 inhibitor Dullard, regulates cardiac neural crest cell behavior and outflow tract septation in vertebrates.

Single-cell transcriptome analysis during cardiogenesis reveals basis for organ level developmental anomalies

The paper uses single-cell RNA sequencing to analyze cardiac progenitor cells during normal and abnormal cardiogenesis, identifying transcriptional changes linked to congenital heart defects.

Spatiotemporal Gene Coexpression and Regulation in Mouse Cardiomyocytes of Early Cardiac Morphogenesis

The paper constructs gene co-expression networks in mouse cardiomyocytes to identify spatiotemporal gene modules and regulatory pathways involved in cardiac morphogenesis.

Single-cell RNA-seq of the Developing Cardiac Outflow Tract Reveals Convergent Development of the Vascular Smooth Muscle Cells at the Base of the Great Arteries

The paper uses single-cell RNA-seq to study cardiac outflow tract development in mice, identifying new cell lineages and transitions, including myocardial to VSMC trans-differentiation.

HSA+ immature cardiomyocytes persist in the adult heart and expand after ischemic injury

The paper identifies HSA/CD24+ immature cardiomyocytes that persist in adult hearts and expand after ischemic injury.

Standardised imaging pipeline for phenotyping mouse laterality defects and associated heart malformations, at multiple scales and multiple stages

The paper develops a standardized multimodality imaging pipeline for 3D phenotyping of laterality defects and heart malformations in mice across multiple scales and stages.

Pre-existent adult sox10+ cardiomyocytes contribute to myocardial regeneration in the zebrafish

The paper identifies a subset of pre-existent sox10+ cardiomyocytes in adult zebrafish that expand after injury and are crucial for cardiac regeneration.

Endocardial differentiation in zebrafish occurs during early somitogenesis and is dependent on BMP and etv2 signalling

This study identifies the emergence of endocardial differentiation in zebrafish during early somitogenesis and shows its dependence on BMP and etv2 signalling.

Gata4 drives Hh-signaling for second heart field migration and outflow tract development

This study identifies Gata4's role in promoting Hh-signaling for proper SHF migration and OFT development, showing that Hh signaling rescues OFT defects in Gata4 mutants.

Inferring novel lncRNA associated with Ventricular septal defect by DNA methylation interaction network

The paper identifies novel lncRNAs associated with ventricular septal defect by integrating DNA methylation, gene expression, and lncRNA expression data from early embryos and VSD samples.

The transmembrane protein Crb2a regulates cardiomyocyte apicobasal polarity and adhesion in zebrafish

This study investigates the role of Crb2a in zebrafish cardiac development, showing it regulates cell-cell adhesion and apicobasal polarity during trabeculation.

Left Pulmonary Artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

The paper evaluates left pulmonary artery dimensions in 22q11.2DS patients without cardiac defects and finds reduced LPA/RPA ratios, supported by Tbx1 mutant mouse studies showing similar anomalies.

Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular septal defect (VSD)

This study identifies epigenetic markers in placental DNA methylation and microRNAs associated with ventricular septal defect (VSD) in fetuses.

Tbx1 regulates extracellular matrix-cell interactions in the second heart field.

This study shows TBX1 regulates ECM-integrin-focal adhesion signaling in the second heart field, essential for cardiac outflow tract development.

Metabolic reprogramming from glycolysis to amino acid utilization in cardiac HIF1α deficient mice.

This study investigates the effects of HIF1α deletion in cardiac progenitors during heart development, finding that HIF1 is dispensable for cardiac growth and reveals metabolic reprogramming toward amino acid utilization.