Congenital heart defects research

Chamber-Specific Transcriptomic Insight into Cardiac Development using Guinea Pig and Human Heart Tissue

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.

Spatial Dynamics of the Developing Human Heart

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.

The Whsc2/NelfA -dependent transcription complex is required for postnatal cardiac development and heart function.

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

MYRF is Essential for Epicardial Development

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

A method for analysing tissue motion and deformation during mammalian organogenesis

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

Decoding Chromatin Dynamics in Cardiac Organoids Reveals Genetic Drivers of Human Heart Development and Disease

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.

Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene.

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

Psoralen Enhances Direct Cardiac Reprogramming via PPARα Activation and Promotion of Mitochondrial Fission

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

The pericardium forms as a distinct structure during heart formation

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.

Essential Role for Trf2 in Cardiac Development and Function

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.

The livebearers platyfish and swordtails partially regenerate their hearts with persistent scarring

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.

Cardiomyocyte-expressed TGFβ signals to fibroblasts to program early heart maturation and adult myocyte identity

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

A balanced circadian glycolytic rhythm drives cardiomyocyte cell cycle progression during fish heart regeneration.

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

Synergistic and independent roles for Nodal and FGF in zebrafish CPC migration and asymmetric heart morphogenesis

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.

VANGL2 shapes the mouse heart tube from adjacent epithelia and without planar polarity

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.

Implication of novel variants of BMP2 in isolated congenital heart disease: Functional characterization by in silico and invitro approaches

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

A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects

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.

Contractility governs cardiomyocyte cell cycle activity

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.

Contractile function maintains cardiomyocyte differentiation and inhibits cell cycle activity

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

Temporal requirements of MAPK effectors reflect signalling microenvironment heterogeneity during Mesp1+ cardiac progenitor emergence and migration.

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.

LIPTER, a cardiomyocyte-enriched long noncoding RNA, controls cardiac cytoskeletal maturation and is regulated by a cardiomyocyte-specific enhancer.

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

Developmental outflow tract abnormalities of Jag1-deficient mice are associated with abnormal ventricular activation and desynchronized contraction.

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

Multiscale mechanics drive functional maturation of the vertebrate heart

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

Mitochondrial dysfunction underlies cardiac contractility and growth defects in a zebrafish model of NAA15-related heart disease

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity

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

Cited4a limits cardiomyocyte dedifferentiation and proliferation during zebrafish heart regeneration

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

Essential regulation of heparan sulfate proteoglycan signalling controls cell behaviour to support cardiac development

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

Cloche/Npas4l is a pro-regenerative platelet factor during zebrafish heart regeneration

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.

Pretreatment with estrogen enhances the therapeutic efficacy of cardiac progenitor cells and improves cardiac recovery in a failing heart model

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.

NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity

The paper investigates NKX2-5 mutations in congenital heart disease by analyzing their epigenomic, biochemical, and chromatin search functions in cardiomyocytes, revealing diverse loss and gain-of-function defects.