Congenital heart defects research

Twisting of the heart tube during cardiac looping is a tbx5-dependent and tissue-intrinsic process

This study identifies tbx5a as essential for cardiac looping in zebrafish, showing that heart tube twisting depends on intrinsic tissue patterning and is independent of cell addition.

Upregulation of TBX1 by genetic variants are associated with human congenital heart disease

This study identifies a genetic variant in TBX1 associated with congenital heart disease and shows it increases TBX1 promoter activity and risk.

Understanding Mechanisms of Chamber-Specific Differentiation Through Combination of Lineage Tracing and Single Cell Transcriptomics

The paper uses single-cell RNA sequencing to study atrial and ventricular myocardial cell differentiation, identifying lineage trajectories and effects of retinoic acid on cardiac development.

Downregulation of WT1 transcription factor gene expression is required to promote myocardial fate

The paper shows that sustained WT1 expression impairs cardiomyocyte maturation and leads to their transformation into epicardial cells in zebrafish.

Cyp26b1 restrains murine heart valve growth during development

This paper identifies Cyp26b1 as a gene critical for heart valve development in mice, showing its role in restricting cell proliferation and preventing defects like ventricular septal defects.

Distinct epicardial gene regulatory programmes drive development and regeneration of the zebrafish heart

The paper identifies distinct gene regulatory programmes in the zebrafish epicardium during development and regeneration, revealing differences from developmental programmes.

Glypican-6 deficiency causes dose-dependent conotruncal congenital heart malformations through abnormal remodelling of the endocardial cushions

The paper identifies GPC6 as a causative gene for TOF through GWAS and mouse models, showing dose-dependent cardiac malformations.

Unveiling unexpected complexity and multipotentiality of early heart fields

The paper reveals unexpected complexity and multipotentiality of early heart fields through lineage and single-cell analyses, identifying new progenitor sources and developmental relationships.

The EMT transcription factor Snai1 maintains myocardial wall integrity by repressing intermediate filament gene expression

This study identifies Snai1's role in maintaining myocardial wall integrity by repressing intermediate filament gene expression in zebrafish.

SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome

The paper identifies SORBS2 as a genetic factor contributing to cardiac malformations in 4q deletion syndrome through dual roles in sarcomere integrity and second heart field progenitor fate.

Single-cell Transcriptomic Profiling Unveils Cardiac Cell-type Specific Response to Maternal Hyperglycemia Underlying the Risk of Congenital Heart Defects

This study uses single-cell RNA-sequencing to identify how maternal hyperglycemia affects cardiac cell-type specific gene regulation, increasing the risk of congenital heart defects.

Semaphorin3f as an intrinsic regulator of chamber-specific heart development

The paper identifies Semaphorin3f as a key regulator in establishing chamber-specific differentiation in the zebrafish heart by modulating gene expression boundaries between atrial and ventricular chambers.

Ventricular, atrial and outflow tract heart progenitors arise from spatially and molecularly distinct regions of the primitive streak.

The paper identifies spatial and molecular differences in cardiac progenitor origins in mouse embryos, showing distinct regions of the primitive streak contribute to different heart structures.

Endocardial/endothelial angiocrines regulate cardiomyocyte development and maturation and induce features of ventricular non-compaction

This study identifies angiocrine factors secreted by endocardial and endothelial cells that regulate cardiomyocyte development and maturation, contributing to ventricular non-compaction in Ino80-deficient mouse hearts.

Midkine-a regulates the formation of a fibrotic scar during zebrafish heart regeneration

This study shows that Midkine-a promotes heart regeneration in zebrafish by regulating fibrosis, as its loss leads to persistent collagen scars and blocked regeneration.

The extracellular matrix protein agrin is essential for epicardial epithelial-to-mesenchymal transition during heart development

This study identifies agrin as a critical regulator of epicardial EMT by localizing dystroglycan to the Golgi apparatus, ensuring ECM-cytoskeletal connectivity and mechanical integrity during heart development.

Persistent ventricle partitioning in the adult zebrafish heart

The paper investigates the contribution of first and second heart field lineages to the adult zebrafish ventricle, finding persistent cell-based compartmentalization without physical boundaries.

In vivo proximity labeling identifies cardiomyocyte protein networks during zebrafish heart regeneration

The paper uses BioID2 proximity labeling to identify cardiomyocyte protein networks during zebrafish heart regeneration and finds Rho A is a target of ErbB2 signaling involved in muscle creation.

PGC1/PPAR Drive Cardiomyocyte Maturation through Regulation of Yap1 and SF3B2

This study identifies PGC1/PPAR signaling and its regulators Yap1 and SF3B2 as key drivers of cardiomyocyte maturation through single-cell transcriptomic analysis across neonatal to adult hearts.

Neonatal hyperoxia inhibits proliferation of atrial cardiomyocytes by suppressing fatty acid synthesis

This study shows that neonatal hyperoxia inhibits atrial cardiomyocyte proliferation by suppressing fatty acid synthesis genes, leading to diastolic heart failure.

The Axenfeld-Rieger syndrome gene FOXC1 contributes to left-right patterning

This paper shows that FOXC1 mutations in zebrafish cause left-right axis defects and congenital heart defects, similar to human Axenfeld-Rieger syndrome.

Coxsackievirus B3 Infection Early in Pregnancy Induces Congenital Heart DefectsThrough Suppression of Fetal Cardiomyocyte Proliferation

This study shows that Coxsackievirus B3 infection early in pregnancy causes congenital heart defects by suppressing fetal cardiomyocyte proliferation.

Asymmetric Hapln1a drives regionalised cardiac ECM expansion and promotes heart morphogenesis during zebrafish development

The paper identifies asymmetric Hapln1a expression in zebrafish heart development, showing it drives ECM expansion and promotes asymmetric heart morphogenesis through interaction with laterality cues.

Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes

Transcriptional regulation of structural and functional adaptations in a developing adulthood myocardium

The paper investigates transcriptional changes in mouse myocardium during post-natal to adult transition, finding significant gene expression shifts and structural-functional adaptations.

Maternal vitamin D deficiency impairs heart formation in mouse offspring through a change in 3D-chromatin structure

This study shows maternal vitamin D deficiency causes heart defects in offspring by altering 3D-chromatin structure and gene regulation across generations.

Modeling human TBX5 haploinsufficiency predicts regulatory networks for congenital heart disease

The paper models TBX5 haploinsufficiency in iPSC-derived cardiomyocytes to identify gene regulatory network imbalances linked to congenital heart disease.

Is zebrafish heart regeneration complete? Lineage-restricted cardiomyocytes proliferate to pre-injury numbers but some fail to differentiate in fibrotic hearts

The paper quantifies cardiomyocyte regeneration in zebrafish after injury, finding complete numerical replacement but incomplete differentiation and scar resorption.

Fate of developmental mechanisms of myocardial plasticity in the postnatal heart

The paper investigates the postnatal fate of developmental gene regulatory networks in the heart, identifying persistent contributions from neural crest-derived cardiomyocytes.

Cell-ECM interactions play distinct and essential roles at multiple stages during the development of the aortic arch arteries

This study investigates how cell-ECM interactions, specifically through integrin 5β1 and fibronectin, regulate the morphogenesis of the aortic arch arteries at multiple developmental stages.