Congenital heart defects research

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

Patterning defects in mice with defective ventricular wall maturation and cardiomyopathy

The paper examines gene expression patterns in mouse ventricles, finding less complex regional organization compared to humans and highlighting spatial gene regulation in cardiomyopathy.

Remodelling of supernumerary leaflet primordia leads to bicuspid aortic valve (BAV) caused by loss of primary cilia

This study shows that loss of primary cilia in second heart field cells causes bicuspid aortic valve by disrupting Notch-Jag1 signaling and altering valve leaflet formation.

Wnt11 Positively Regulates Neonatal Cardiomyocyte Maturation at the Interphase of Life via Frizzled 4 Receptor

This study identifies Frizzled 4 as a specific receptor for Wnt11 signaling in neonatal cardiomyocytes, showing its role in regulating cell cycle activity and maturation during the perinatal circulatory transition.

Functionally significant, novel variants of BMP4 are associated with isolated congenital heart disease

The paper identifies four novel BMP4 variants associated with congenital heart disease and shows they enhance BMP signaling through increased SMAD phosphorylation and downstream gene expression.

A Developmental Mechanism Linking Heart Evolution and Congenital Defects

This paper identifies oxygen as a developmental switch regulating apoptosis in heart evolution and congenital defects, linking oxygen levels to heart structure and disease.

Dynamic hyperplastic cardiac growth in Burmese pythons

This study shows that Burmese pythons can sustain cardiac growth through cardiomyocyte hyperplasia by re-entering the cell cycle after frequent feeding.

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice

This study shows that combined haploinsufficiency of Nipbl and Isl1 in mice leads to more severe congenital heart defects than either gene deficiency alone.

Live-imaging reveals Coordinated Cell Migration and Cardiac Fate Determination during Mammalian Gastrulation.

The paper tracks mesodermal cell migration and lineage during mouse gastrulation, revealing distinct progenitor behaviors and fate allocation in cardiac development.

Heart spheroids from primary cells for studying cardiac development

This study generates heart spheroids from murine primary cells and shows they retain in vivo cell lineages and respond to growth factors and cell interactions.

A Retinoic Acid:YAP1 signaling axis controls atrial lineage commitment

The paper identifies YAP1 as a non-canonical effector of RA signaling essential for atrial lineage commitment in cardiac progenitor cells.

Absence of a prolonged macrophage and B cell response inhibits heart regeneration in the Mexican cavefish

The paper identifies prolonged innate and adaptive immune responses as critical for heart regeneration in surface fish, showing that inhibiting these responses impairs regeneration.

microRNA-210 enhances cell survival and paracrine potential for cardiac cell therapy while targeting mitophagy.

This study shows that miR-210 improves cardiac progenitor cell survival and paracrine function by inhibiting apoptosis and mitophagy, and enhancing mitochondrial biogenesis and growth factor secretion.

Integrated Proteomics Identifies Troponin I Isoform Switch as a Regulator of a Sarcomere-Metabolism Axis During Cardiac Regeneration

The paper identifies ssTnI overexpression as enhancing cardiomyocyte proliferation and regenerative capacity post-MI through metabolic shifts.

Haploinsufficiency of eNOS mitigates beneficial effects of maternal exercise on fetal heart development during pregestational diabetes

This study examines how maternal exercise affects fetal heart development in pregestational diabetes by investigating the role of eNOS in a mouse model.

A paternal cardiac lesion induces cardiac adaptation in offspring

Paternal cardiac injury in mice improves offspring cardiac recovery and function through heritable changes.

GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis

This study shows GATA6 regulates WNT and BMP programs in human precardiac mesoderm patterning, and modulating these pathways can rescue cardiomyocyte defects in GATA6 mutants.

The transmembrane glycoprotein Gpnmb is required for the immune and fibrotic responses during zebrafish heart regeneration

This study identifies Gpnmb as a critical regulator of immune and fibrotic responses during zebrafish heart regeneration, showing its role in macrophage function and ECM regulation.

Mechanical forces pattern endocardial Notch activation via mTORC2-PKC pathway

This study shows mechanical forces, specifically shear stress, activate Notch signaling in the endocardium via the mTORC2-PKC pathway, influencing cardiac development.

Multi-modal refinement of the human heart atlas during the first gestational trimester

The paper refines a human heart atlas using multi-modal data from the first trimester, identifying novel cell types and spatial features in cardiac development.

Dynamic map illuminates Hippo to cMyc module crosstalk driving cardiomyocyte proliferation

The paper develops a computational model of cardiac proliferation signaling that identifies key regulators and predicts Hippo to cMyc module crosstalk driving cardiomyocyte proliferation.

Reactivation of an Embryonic Cardiac Neural Crest Transcriptional Subcircuit During Zebrafish Heart Regeneration

The paper identifies a gene regulatory subcircuit in zebrafish cardiac neural crest cells that is reactivated during heart regeneration.

A Cardiac Transcriptional Enhancer is Repurposed During Regeneration to Activate an Anti-proliferative Program

The paper identifies an enhancer, REN, that regulates gene expression during zebrafish heart regeneration by switching its target gene from adamts1 to runx1.

Mitotic Block and Epigenetic Repression Underlie Neurodevelopmental Defects and Neurobehavioral Deficits in Congenital Heart Disease

This study identifies mitotic block and epigenetic repression as causes of neurodevelopmental defects and neurobehavioral deficits in congenital heart disease using mouse models.

SHEN-LONG, a novel cardiac regulatory locus, regulates cardiac master transcription factor NKX2-5 in pluripotent stem cell derived cardiomyocytes

The paper identifies SHEN-LONG, a cardiac regulatory locus, and shows it regulates NKX2-5 expression in iPSC-derived cardiomyocytes through a super-enhancer, with long-range effects on gene expression.

Molecular mechanisms of heart field specific cardiomyoscytedifferentiation- a computational modeling approach

The paper develops a Boolean gene regulatory network model to simulate cardiomyocyte differentiation into ventricular or atrial types, validated by reproducing known knockouts and aligning with marker gene expression.

Injured endocardium obtains characteristics of haemogenic endothelium during adult zebrafish heart regeneration

The paper identifies transient Runx1-expressing endocardial cells in injured zebrafish hearts that transition towards myofibroblast or haemogenic endocardium identities.

MCM2 mediates post-MI cardioprotection by promoting the pro-angiogenic cardiosome signaling

This study shows that re-expressing MCM2 in adult cardiomyocytes promotes the secretion of pro-angiogenic cardiosomes, improving cardiac function and reducing fibrosis after myocardial infarction.

Self-organizing human heart assembloids with autologous and developmentally relevant cardiac neural crest-derived tissues

This paper develops a human heart assembloid model that recapitulates cardiac neural crest integration and reveals antidepressant effects on cardiac development.

Congenital heart defects differ following left versus right avian cardiac neural crest ablation

This study shows that ablation of the right cardiac neural crest in chick embryos causes more severe and varied congenital heart defects compared to left ablation.