Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

View from the heart: cardiac fibroblasts in development, scarring and regeneration

MB Furtado, HT Nim, SE Boyd… - Development, 2016 - journals.biologists.com
In the adult, tissue repair after injury is generally compromised by fibrosis, which maintains
tissue integrity with scar formation but does not restore normal architecture and function. The …

[HTML][HTML] Disease model of GATA4 mutation reveals transcription factor cooperativity in human cardiogenesis

YS Ang, RN Rivas, AJS Ribeiro, R Srivas, J Rivera… - Cell, 2016 - cell.com
Mutation of highly conserved residues in transcription factors may affect protein-protein or
protein-DNA interactions, leading to gene network dysregulation and human disease …

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease

M Ameen, L Sundaram, M Shen, A Banerjee, S Kundu… - Cell, 2022 - cell.com
To define the multi-cellular epigenomic and transcriptional landscape of cardiac cellular
development, we generated single-cell chromatin accessibility maps of human fetal heart …

The nuclear receptor ERR cooperates with the cardiogenic factor GATA4 to orchestrate cardiomyocyte maturation

T Sakamoto, K Batmanov, S Wan, Y Guo, L Lai… - Nature …, 2022 - nature.com
Estrogen-related receptors (ERR) α and γ were shown recently to serve as regulators of
cardiac maturation, yet the underlying mechanisms have not been delineated. Herein, we …

Of mice and men: molecular genetics of congenital heart disease

TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications

J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

[HTML][HTML] Paternal preconception phthalate exposure alters sperm methylome and embryonic programming

OA Oluwayiose, C Marcho, H Wu, E Houle… - Environment …, 2021 - Elsevier
Preconception environmental conditions have been demonstrated to shape sperm
epigenetics and subsequently offspring health and development. Our previous findings in …

[HTML][HTML] Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease

R Zhao, L Cao, WJ Gu, L Li, ZZ Chen, J Xiang… - Cell Reports …, 2023 - cell.com
Dysregulated maternal fatty acid metabolism increases the risk of congenital heart disease
(CHD) in offspring with an unknown mechanism, and the effect of folic acid fortification in …

Utilization of whole exome sequencing to identify causative mutations in familial congenital heart disease

S LaHaye, D Corsmeier, M Basu… - Circulation …, 2016 - Am Heart Assoc
Background—Congenital heart disease (CHD) is the most common type of birth defect with
family-and population-based studies supporting a strong genetic cause for CHD. The goal of …