Genomic frontiers in congenital heart disease
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
[HTML][HTML] Molecular genetics and complex inheritance of congenital heart disease
Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …
Lifespan Perspective on Congenital Heart Disease Research: JACC State-of-the-Art Review
More than 90% of patients with congenital heart disease (CHD) are nowadays surviving to
adulthood and adults account for over two-thirds of the contemporary CHD population in …
adulthood and adults account for over two-thirds of the contemporary CHD population in …
[HTML][HTML] Recent advances in CRISPR-based genome editing technology and its applications in cardiovascular research
ZH Li, J Wang, JP Xu, J Wang, X Yang - Military Medical Research, 2023 - Springer
The rapid development of genome editing technology has brought major breakthroughs in
the fields of life science and medicine. In recent years, the clustered regularly interspaced …
the fields of life science and medicine. In recent years, the clustered regularly interspaced …
A change of heart: new roles for cilia in cardiac development and disease
L Djenoune, K Berg, M Brueckner… - Nature Reviews Cardiology, 2022 - nature.com
Although cardiac abnormalities have been observed in a growing class of human disorders
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …
[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 …
[HTML][HTML] Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy
Clinical presentation of congenital heart disease is heterogeneous, making identification of
the disease-causing genes and their genetic pathways and mechanisms of action …
the disease-causing genes and their genetic pathways and mechanisms of action …
Molecular genetic mechanisms of congenital heart disease
TZ Choudhury, V Garg - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) affects~ 1% of all live births, but a definitive etiology is
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …
Evidence-based assessment of congenital heart disease genes to enable returning results in a genomic study
EL Griffin, SN Nees, SU Morton, J Wynn… - Circulation: Genomic …, 2023 - Am Heart Assoc
Background: Congenital heart disease (CHD) is the most common major congenital
anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a …
anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a …
Genomic enhancers in cardiac development and disease
CG Anene-Nzelu, MCJ Lee, WLW Tan… - Nature Reviews …, 2022 - nature.com
Abstract The Human Genome Project marked a major milestone in the scientific community
as it unravelled the~ 3 billion bases that are central to crucial aspects of human life. Despite …
as it unravelled the~ 3 billion bases that are central to crucial aspects of human life. Despite …