Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
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 …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Drosophila Heart as a Model for Cardiac Development and Diseases
A Souidi, K Jagla - Cells, 2021 - mdpi.com
The Drosophila heart, also referred to as the dorsal vessel, pumps the insect blood, the
hemolymph. The bilateral heart primordia develop from the most dorsally located …
hemolymph. The bilateral heart primordia develop from the most dorsally located …
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
A screening approach to identify clinically actionable variants causing congenital heart disease in exome data
Background: Congenital heart disease (CHD)—structural abnormalities of the heart that
arise during embryonic development—is the most common inborn malformation, affecting≤ …
arise during embryonic development—is the most common inborn malformation, affecting≤ …
The complex activities of the SET1/MLL complex core subunits in development and disease
H Jiang - Biochimica et Biophysica Acta (BBA)-Gene Regulatory …, 2020 - Elsevier
In mammalian cells, the SET1/MLL complexes are the main writers of the H3K4 methyl mark
that is associated with active gene expression. The activities of these complexes are …
that is associated with active gene expression. The activities of these complexes are …
Single-cell profiling of the developing embryonic heart in Drosophila
Drosophila is an important model for studying heart development and disease. Yet, single-
cell transcriptomic data of its developing heart have not been performed. Here, we report …
cell transcriptomic data of its developing heart have not been performed. Here, we report …
Integrating imaging and omics: computational methods and challenges
JK Hériché, S Alexander… - Annual Review of …, 2019 - annualreviews.org
Fluorescence microscopy imaging has long been complementary to DNA sequencing-and
mass spectrometry–based omics in biomedical research, but these approaches are now …
mass spectrometry–based omics in biomedical research, but these approaches are now …
WDR5 stabilizes actin architecture to promote multiciliated cell formation
SS Kulkarni, JN Griffin, PP Date, KF Liem, MK Khokha - Developmental cell, 2018 - cell.com
The actin cytoskeleton is critical to shape cells and pattern intracellular organelles, which
collectively drives tissue morphogenesis. In multiciliated cells (MCCs), apical actin drives …
collectively drives tissue morphogenesis. In multiciliated cells (MCCs), apical actin drives …
An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo
Mutations and variations in and around SCN5A, encoding the major cardiac sodium
channel, influence impulse conduction and are associated with a broad spectrum of …
channel, influence impulse conduction and are associated with a broad spectrum of …
In vivo and in vitro genetic models of congenital heart disease
U Majumdar, J Yasuhara… - Cold Spring Harbor …, 2021 - cshperspectives.cshlp.org
Congenital cardiovascular malformations represent the most common type of birth defect
and encompass a spectrum of anomalies that range from mild to severe. The etiology of …
and encompass a spectrum of anomalies that range from mild to severe. The etiology of …