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 …

Genetics of congenital heart disease

K Williams, J Carson, C Lo - Biomolecules, 2019 - mdpi.com
Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal
models and humans have indicated a genetic etiology for CHD. About 400 genes have been …

Spatiotemporal single-cell RNA sequencing of developing chicken hearts identifies interplay between cellular differentiation and morphogenesis

M Mantri, GJ Scuderi, R Abedini-Nassab… - Nature …, 2021 - nature.com
Single-cell RNA sequencing is a powerful tool to study developmental biology but does not
preserve spatial information about tissue morphology and cellular interactions. Here, we …

Single-cell transcriptomic analysis identifies murine heart molecular features at embryonic and neonatal stages

W Feng, A Bais, H He, C Rios, S Jiang, J Xu… - Nature …, 2022 - nature.com
Heart development is a continuous process involving significant remodeling during
embryogenesis and neonatal stages. To date, several groups have used single-cell …

Maternal hyperglycemia and fetal cardiac development: Clinical impact and underlying mechanisms

M Basu, V Garg - Birth defects research, 2018 - Wiley Online Library
Congenital heart disease (CHD) is the most common type of birth defect and is both a
significant pediatric and adult health problem, in light of a growing population of survivors …

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

N Zhu, CL Welch, J Wang, PM Allen… - Genome medicine, 2018 - Springer
Background Pulmonary arterial hypertension (PAH) is a rare disease characterized by
distinctive changes in pulmonary arterioles that lead to progressive pulmonary arterial …

Diverse epigenetic mechanisms of human disease

E Brookes, Y Shi - Annual review of genetics, 2014 - annualreviews.org
Epigenetic control of gene expression programs is essential for normal organismal
development and cellular function. Abrogation of epigenetic regulation is seen in many …

Single cardiomyocyte nuclear transcriptomes reveal a lincRNA-regulated de-differentiation and cell cycle stress-response in vivo

K See, WLW Tan, EH Lim, Z Tiang, LT Lee… - Nature …, 2017 - nature.com
Cardiac regeneration may revolutionize treatment for heart failure but endogenous
progenitor-derived cardiomyocytes in the adult mammalian heart are few and pre-existing …

The programming of cardiovascular disease

KL Thornburg - Journal of developmental origins of health and …, 2015 - cambridge.org
In spite of improving life expectancy over the course of the previous century, the health of the
US population is now worsening. Recent increasing rates of type 2 diabetes, obesity and …

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

F Quintero-Rivera, QJ Xi… - Human molecular …, 2015 - academic.oup.com
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous
subset of congenital heart disease for which gene identification has been difficult. We …