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 …
Cardiac myosin contraction and mechanotransduction in health and disease
SK Barrick, MJ Greenberg - Journal of Biological Chemistry, 2021 - ASBMB
Cardiac myosin is the molecular motor that powers heart contraction by converting chemical
energy from ATP hydrolysis into mechanical force. The power output of the heart is tightly …
energy from ATP hydrolysis into mechanical force. The power output of the heart is tightly …
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Background Clinical interpretation of the large number of rare variants identified by high
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …
throughput sequencing (HTS) technologies is challenging. The aim of this study was to …
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 …
which may be caused by multiple genetic and environmental factors. Studies in human …
Heavy and light roles: myosin in the morphogenesis of the heart
J England, S Loughna - Cellular and Molecular Life Sciences, 2013 - Springer
Myosin is an essential component of cardiac muscle, from the onset of cardiogenesis
through to the adult heart. Although traditionally known for its role in energy transduction and …
through to the adult heart. Although traditionally known for its role in energy transduction and …
[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 …
leading cause of mortality in childhood. Although advances in clinical management have …
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity
Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction,
and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome …
and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome …
[HTML][HTML] Genetic and genomics in congenital heart disease: a clinical review
A Saliba, ACV Figueiredo, JE Baroneza, JY Afiune… - Jornal de …, 2020 - SciELO Brasil
Objective: Discuss evidence referring to the genetic role in congenital heart diseases,
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta
T Bjornsson, RB Thorolfsdottir… - European heart …, 2018 - academic.oup.com
Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs)
and confers substantial morbidity despite treatment. It is increasingly recognized as a highly …
and confers substantial morbidity despite treatment. It is increasingly recognized as a highly …
Genetic basis of human congenital heart disease
SN Nees, WK Chung - Cold Spring Harbor perspectives …, 2020 - cshperspectives.cshlp.org
Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …