Congenital heart defects research

GATA4/5/6 family transcription factors are conserved determinants of cardiac versus pharyngeal mesoderm fate

This study identifies GATA4/5/6 as conserved regulators of cardiac versus pharyngeal mesoderm fate by analyzing single-cell gene expression in zebrafish and Ciona.

Apelin signaling dependent endocardial protrusions promote cardiac trabeculation in zebrafish

This study shows that Apelin signaling-dependent endocardial protrusions are essential for cardiac trabeculation by modulating cardiomyocyte behavior through Neuregulin and Erk signaling.

Quantitative Proteomic Profiling of Murine Embryonic Heart Development Reveals a Role for the Mevalonate Pathway in Cardiomyocyte Proliferation

The paper uses quantitative proteomics to study murine embryonic heart development and identifies the mevalonate pathway's role in cardiomyocyte proliferation.

Identification of enhancer regulatory elements that direct epicardial gene expression during zebrafish heart regeneration

The paper identifies enhancer elements that regulate epicardial gene expression during zebrafish heart regeneration by analyzing transcriptomes and chromatin accessibility.

A Mouse Model with Complete Penetrance for Atrioventricular Septal Defect/Complete AV Canal

This paper describes a mouse model with 100% penetrance of AVSD by introducing conditional SHH pathway mutations in a trisomic DS model.

Oxygen-independent, hormonal control of HIF-1α regulates the developmental and regenerative growth of cardiomyocytes.

This paper identifies an O2-independent HIF-1 mechanism regulated by GH/IGF1/SST signaling that controls cardiomyocyte growth through metabolic shifts.

ERp44 is Required for Endocardial Cushion Development by Regulating VEGFA Secretion in Myocardium

This study shows ERp44 is essential for endocardial cushion development by regulating VEGFA secretion in myocardium, leading to congenital heart defects in mice.

Heterogeneous pdgfrβ+ cells regulate coronary vessel development and revascularization during heart regeneration

The paper identifies heterogeneous pdgfrβ+ cells critical for coronary vessel development and heart regeneration in zebrafish.

Nascent Polypeptide Associated Complex-alpha and Signal Recognition Particle are required for cardiac development and remodeling

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.

Genomic and transcriptomic data analyses highlight KPNB1 and MYL4 as novel risk genes for congenital heart disease

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.

LRRFIP2 modulates the response to hypoxia during embryonic cardiogenesis

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.

Coronary blood vessels from distinct origins converge to equivalent states during mouse and human development

The paper shows that coronary endothelial cells in mouse and human hearts initially show lineage-specific transcriptional differences but later become influenced by location, with adult cells becoming more homogeneous.

SRSF3 is a key regulator of epicardial formation

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.

Cardiomyocyte GSK-3β deficiency induces cardiac progenitor cell proliferation in the ischemic heart through paracrine mechanisms

This study shows that inhibiting GSK-3β in cardiomyocytes promotes cardiac progenitor cell proliferation and improves cardiac function after myocardial infarction through paracrine signaling.

Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in the murine cardiopharyngeal mesoderm

This study identifies a Tbx1-dependent multilineage primed population in the murine cardiopharyngeal mesoderm using single-cell RNA-sequencing and shows its role in cardiac and skeletal muscle development.

Ischemic tolerance and cardiac repair in the African spiny mouse

This study demonstrates that African spiny mice exhibit improved cardiac repair and tolerance to myocardial infarction compared to other mammals.

Adult spiny mice (Acomys) exhibit endogenous cardiac recovery in response to myocardial infarction

This study shows that spiny mice (Acomys) have better cardiac recovery after myocardial infarction compared to common lab mice, with less scarring and better function.

CHD4 is recruited by GATA4 and NKX2-5 silencers to repress non-cardiac gene programs in the developing heart

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.

Sequential defects in cardiac lineage commitment and maturation cause hypoplastic left heart syndrome

This study identifies sequential defects in cardiac lineage commitment and maturation in hypoplastic left heart syndrome using multi-omics approaches and iPSC modeling.

TBX5 drives Aldh1a2 expression to regulate a RA-Hedgehog-Wnt gene regulatory network coordinating cardiopulmonary development

This study identifies a gene regulatory network involving Tbx5, RA, Hedgehog, and Wnt signaling that coordinates cardiopulmonary development.

Direct activation of RA signaling in cardiomyocytes protects hearts from apoptosis after myocardial infarction in mice

This study shows direct RA signaling in cardiomyocytes protects against apoptosis after MI in mice by identifying Tgm2 and Ace1 as RA targets.

Pseudo-dynamic analysis of heart tube formation in the mouse reveals strong regional variability and early left-right asymmetry

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

Lamb1a regulates atrial growth by limiting excessive, contractility-dependent second heart field addition during zebrafish heart development

This study identifies a role for laminin in zebrafish heart development by showing that Lamb1a limits SHF addition to the atrium, preventing excessive growth and morphogenesis defects.

Polycomb group protein CBX7 represses cardiomyocyte proliferation via modulation of the TARDBP/Rbm38 axis

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

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes

The paper identifies rare GATA6 variants linked to increased risk of bicuspid aortic valve in a large UK Biobank exome study.

Prrx1b directs pro-regenerative fibroblasts during zebrafish heart regeneration

This study identifies Prrx1b's role in directing pro-regenerative fibroblasts during zebrafish heart regeneration, reducing fibrosis and promoting tissue repair.

Noncanonical Notch signals have opposing roles during cardiac development

This study shows noncanonical Notch signaling has stage-specific roles in cardiac development, inhibiting early heart formation but promoting later growth.

Dach1 extends artery networks and protects against cardiac injury

This study shows that overexpressing Dach1 in endothelial cells extends coronary arteries and improves heart function after myocardial infarction in mice.

A microRNA program controls the transition of cardiomyocyte hyperplasia to hypertrophy and stimulates mammalian cardiac regeneration

This study identifies miR-106b~25 as a regulator of cardiomyocyte hyperplasia to hypertrophy transition and shows its ability to induce cardiac regeneration in adult mice.

Clinical genetic risk variants inform a functional protein interaction network for tetralogy of Fallot

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.