Congenital heart defects research

This study characterizes age- and chamber-specific gene expression patterns in guinea pig and human hearts, identifying conserved maturation markers to support guinea pigs as a preclinical model for pediatric cardiology.

This study shows that Cyclin A2 induces cytokinesis in adult human cardiomyocytes and drives reprogramming in mice through transcriptomic analysis.

This study maps spatial dynamics in early human heart development using single-cell and spatial transcriptomics, identifying cell states and novel features like cardiac fibroblasts and chromaffin cells.

This study shows that NelfA is essential for postnatal cardiac development and function, as its loss leads to cardiomyopathy and heart failure.

This study identifies MYRF's critical role in epicardial development and links its deficiency to cardiac abnormalities in CUGS.

This paper develops a method to analyze tissue motion and deformation during mammalian organogenesis using live imaging data of heart development.

The paper uses a single-cell multi-omic atlas and deep learning to identify cis-regulatory elements and genetic drivers of heart development and disease.

This study identifies ARHGAP10 as a novel gene associated with congenital heart disease and ciliopathy through integrative functional genomics in Xenopus tropicalis.

This study shows that psoralen enhances cardiac reprogramming by activating PPARα and promoting mitochondrial fission, leading to improved cardiomyocyte maturation and function.

This study identifies the pericardium's origin from anterior mesothelial progenitors in zebrafish, distinct from the heart field, and links pericardial stiffness to pediatric cardiomyopathies.

This study shows that Trf2 is critical for cardiac development and function, with CM-specific loss causing heart morphology defects and cardiac dysfunction without telomere shortening.

This study shows that platyfish and swordtails (Xiphophorus species) regenerate their hearts with persistent scarring, unlike zebrafish, due to differences in myocardium structure and inflammatory response.

This study shows that TGFβ from cardiomyocytes programs fibroblast development and ECM environment to support cardiomyocyte maturation in the developing heart.

This study shows that circadian rhythms in glycolysis and cell cycle progression are essential for cardiomyocyte proliferation and heart regeneration in zebrafish.

This study investigates the roles of Nodal and FGF signaling in zebrafish heart asymmetry, showing synergistic effects in CPC migration and heart looping, with Nodal driving asymmetry and FGF playing a permissive role.

This study identifies novel epithelial roles of VANGL2 in shaping the mouse heart tube through cell rearrangements and midline symmetry control, independent of planar polarity.

The paper identifies and functionally characterizes BMP2 variants in congenital heart disease using in vitro and in silico methods, showing increased pathway activity.

This study identifies proteasome factors as contributors to heart development and congenital heart defects using a systems genetics approach combining transcriptomics, PPI networks, and CRISPR screening in zebrafish.

This study shows that heart muscle cell contractility suppresses proliferation and that inhibiting it allows cell cycle re-entry, suggesting contractility as a key regulator of cardiac regeneration.

The paper shows that inhibiting contractile function in cardiomyocytes reactivates the cell cycle, suggesting active contraction maintains differentiation and cell cycle arrest.

The paper shows that different MAPK effectors are required at distinct times for cardiac progenitor migration in Mesp1 mutants, linking signaling heterogeneity to migration timing.

The paper identifies LIPTER, a cardiomyocyte-specific long noncoding RNA, and shows it regulates cytoskeletal maturation and is controlled by a cardiomyocyte-specific enhancer.

This study shows that Jag1 deficiency in mice causes heart malformations and electrical dysfunction, leading to Tetralogy of Fallot-like defects and mechanical dyssynchrony.

This study investigates how multiscale mechanical and chemical interactions drive the functional maturation of the zebrafish heart during development.

This paper investigates how TBX5 missense mutations affect thermal stability and DNA-binding affinity, providing insights into their role in congenital heart disease.

This study identifies cited4a as a regulator that suppresses cardiomyocyte dedifferentiation and proliferation during zebrafish heart regeneration.

This study shows SULF1, expressed in the epicardium, regulates HSPG sulfation to control cardiac development by modulating signaling and cell fate.

This study identifies Cloche/Npas4l as a pro-regenerative platelet factor in zebrafish heart regeneration, showing its role in regulating cardiomyocyte and endothelial cell proliferation through ligand-receptor interactions.

This study shows that estrogen pretreatment of cardiac progenitor cells improves their engraftment and therapeutic efficacy in a failing heart model, enhancing cardiac recovery and reducing pathological remodeling.