Congenital heart defects research

Dynamics Of Cardiomyocyte Transcriptome And Chromatin Landscape Demarcates Key Events Of Heart Development

The paper analyzes transcriptomic and chromatin accessibility changes in zebrafish cardiomyocytes during heart development to identify key regulatory networks and their disruption in mutant lines.

An alternatively spliced zebrafish jnk1a transcript has an essential and non-redundant role in development of the first heart field derived proximal ventricular chamber.

The fitness cost of a congenital heart defect shapes its genetic architecture

This study investigates how the fitness cost of congenital heart defects influences their genetic architecture using a mouse model, finding that epistasis and genetic compatibility play significant roles in risk.

Piezo1 is required for outflow tract and aortic valve development.

This study shows that PIEZO1 is essential for outflow tract and aortic valve development in zebrafish and identifies PIEZO1 variants linked to bicuspid aortic valve in humans.

Myc is dispensable for cardiac development in the mouse but rescues Mycn-deficient hearts through functional replacement and cell competition

The paper shows Myc is not essential for cardiac development in mice but can replace Mycn function in its absence through cell competition.

Neuropilin 1 mediates epicardial activation and revascularization in the regenerating zebrafish heart

This study shows that Nrp1 is essential for zebrafish heart regeneration by enabling epicardial activation, migration, and revascularization after injury.

Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis.

The paper shows Pax9 is essential for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to regulate 4th pharyngeal arch artery formation.

Myocardial Notch-Rbpj deletion does not affect heart development or function

This study shows that deleting NOTCH-RBPJ in the myocardium does not impair heart development or function, but deleting it in both myocardial and endocardial progenitors causes cardiac defects.

The long noncoding RNA Hand2as orchestrates heart development through regulation of precise expression of HAND2

This study identifies Hand2as as a key lncRNA regulating HAND2 expression in heart development through single-cell RNA sequencing and knockout models, leading to congenital defects and perinatal lethality.

Single cell RNA-seq and ATAC-seq indicate critical roles of Isl1 and Nkx2-5 for cardiac progenitor cell transition states and lineage settlement

The paper uses single-cell RNA-seq and ATAC-seq to study cardiac progenitor cell fate transitions, identifying roles for Isl1 and Nkx2-5 in lineage commitment and gene regulatory networks.

Loss of embryonic neural crest cardiomyocytes causes adult hypertrophic cardiomyopathy

This study shows that loss of embryonic neural crest cardiomyocytes in zebrafish leads to adult hypertrophic cardiomyopathy with altered heart structure and function.

Molecular atlas of postnatal mouse heart development

This study provides a molecular atlas of postnatal mouse heart development by integrating transcriptomics, proteomics, and metabolomics data to identify metabolism-related mechanisms linked to the loss of cardiac regeneration.

Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects

The paper tests a human PBX3 variant in zebrafish to show it may modify congenital heart defect risk by enhancing cardiac morphogenesis defects.

A human cell model of cardiac pathophysiological valvulogenesis

This paper develops a human pluripotent stem cell model to study valvulogenesis and disease, showing it can recapitulate valve development and disease traits like mitral valve prolapse.

In situ transcriptome characteristics are lost following culture adaptation of adult cardiac stem cells

The paper shows that culturing adult cardiac stem cells reduces transcriptome variability and alters gene expression, potentially affecting their therapeutic efficacy.

Regulatory T-cells are required for neonatal heart regeneration

This study shows that regulatory T-cells are essential for neonatal heart regeneration, as their depletion impairs cardiac repair and increases fibrosis.

Tbx1 represses Mef2c gene expression by inducing histone 3 deacetylation of the anterior heart field enhancer

The paper shows Tbx1 represses Mef2c by inducing histone 3 deacetylation at the anterior heart field enhancer in mouse cells and embryos.

Actomyosin dynamics, Bmp and Notch signaling pathways drive apical extrusion of proepicardial cells

The paper identifies actomyosin dynamics and Notch/Bmp signaling as drivers of apical extrusion of proepicardial cells in zebrafish during heart development.

Continuous addition of progenitors forms the cardiac ventricle in zebrafish

This study tracks zebrafish heart development and shows that the ventricle forms continuously from progenitor cells, with FGF signaling playing a critical role in this process.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

Transient fibrosis resolves via fibroblast inactivation in the regenerating zebrafish heart

The paper investigates fibrosis resolution in regenerating zebrafish hearts, finding that fibroblasts become inactivated rather than being eliminated, and that fibrosis supports cardiomyocyte proliferation.

A novel GATA-binding protein 4 gene variation associated with familial atrial septal defect

The paper identifies a novel GATA4 variant associated with familial atrial septal defect through genetic analysis and functional assays.

Analysis of DICER1 in familial and sporadic cases of Transposition of the Great Arteries

The paper screens for DICER1 mutations in TGA patients and finds no apparent pathological mutations.

Live imaging of heart tube development in mouse reveals alternating phases of cardiac differentiation and morphogenesis

The paper uses live imaging of mouse embryos to show that heart tube development involves alternating phases of cardiac differentiation and morphogenesis.

Hey2 restricts cardiac progenitor addition to the developing heart

This study shows Hey2 restricts SHF progenitor addition to the zebrafish heart, preventing excessive myocardial cell growth and congenital heart defects.

Nkx2.5-dependent alterations of the embryonic heart DNA methylome identify novel cis-regulatory elements in cardiac development

The paper identifies Nkx2.5-dependent DNA methylation changes in zebrafish hearts and links them to cis-regulatory elements involved in cardiac development.

Hippo signaling restricts cells in the second heart field that differentiate into Islet-1-positive atrial cardiomyocytes

The paper shows that Hippo signaling restricts SHF cells in zebrafish to prevent excessive differentiation into Islet-1-positive atrial cardiomyocytes.

Early frameshift alleles of zebrafish tbx5a that fail to develop the heartstrings phenotype

The paper generates two new zebrafish tbx5a frameshift alleles and compares their phenotypes to the classic hst mutant, finding differences in heart defects.

Sympathetic Nerve Activity Promotes Cardiomyocyte Cell-Cycle Arrest And Binucleation

This study shows that sympathetic nerve activity reduces cardiomyocyte proliferation and causes binucleation, which may limit heart regeneration in adults.

Cardiac enriched BAF chromatin remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function

This study shows that Baf60c regulates gene expression programs critical for heart development and function by interacting with Myocardin and controlling contractile proteins and metabolic genes.