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 …
Copy-number variation in congenital heart disease
L Ehrlich, SK Prakash - Current Opinion in Genetics & Development, 2022 - Elsevier
Genomic copy-number variants (CNVs) contribute to as many congenital heart disease
(CHD) cases (10–15%) as chromosomal aberrations or single-gene mutations and influence …
(CHD) cases (10–15%) as chromosomal aberrations or single-gene mutations and influence …
[HTML][HTML] Defects in placental syncytiotrophoblast cells are a common cause of developmental heart disease
BN Radford, X Zhao, T Glazer, M Eaton… - Nature …, 2023 - nature.com
Placental abnormalities have been sporadically implicated as a source of developmental
heart defects. Yet it remains unknown how often the placenta is at the root of congenital …
heart defects. Yet it remains unknown how often the placenta is at the root of congenital …
KLF13 loss‐of‐function mutations underlying familial dilated cardiomyopathy
YH Guo, J Wang, XJ Guo, RF Gao… - Journal of the …, 2022 - Am Heart Assoc
Background Dilated cardiomyopathy (DCM), characterized by progressive left ventricular
enlargement and systolic dysfunction, is the most common type of cardiomyopathy and a …
enlargement and systolic dysfunction, is the most common type of cardiomyopathy and a …
[HTML][HTML] Zebrafish as a model of cardiac pathology and toxicity: spotlight on uremic toxins
A Coppola, P Lombari, E Mazzella… - International Journal of …, 2023 - mdpi.com
Chronic kidney disease (CKD) is an increasing health care problem. About 10% of the
general population is affected by CKD, representing the sixth cause of death in the world …
general population is affected by CKD, representing the sixth cause of death in the world …
Genetics of aortic valve disease
RL Ackah, J Yasuhara, V Garg - Current opinion in cardiology, 2023 - journals.lww.com
These new insights into the genetic contributors of AVD have offered new avenues for
translational disease investigation, bridging molecular discoveries to emergent …
translational disease investigation, bridging molecular discoveries to emergent …
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis
Background Pathogenic GATA6 variants have been associated with congenital heart
disease (CHD) and a spectrum of extracardiac abnormalities, including pancreatic agenesis …
disease (CHD) and a spectrum of extracardiac abnormalities, including pancreatic agenesis …
[HTML][HTML] Analysis of congenital heart disease research: Mapping impact, production and global collaboration
JP Zila-Velasque, P Grados-Espinoza, WS Cubas… - Heliyon, 2023 - cell.com
Background Congenital heart disease (CHD) is a severe childhood health problem
worldwide. This study analyzes the scientific production on CHD published in Scopus during …
worldwide. This study analyzes the scientific production on CHD published in Scopus during …
SMAD1 Loss‐of‐Function Variant Responsible for Congenital Heart Disease
Z Wang, XH Qiao, YJ Xu, XY Liu… - BioMed Research …, 2022 - Wiley Online Library
As the most common form of developmental malformation affecting the heart and
endothoracic great vessels, congenital heart disease (CHD) confers substantial morbidity …
endothoracic great vessels, congenital heart disease (CHD) confers substantial morbidity …
Lateral thinking in syndromic congenital cardiovascular disease
Syndromic birth defects are rare diseases that can present with seemingly pleiotropic
comorbidities. Prime examples are rare congenital heart and cardiovascular anomalies that …
comorbidities. Prime examples are rare congenital heart and cardiovascular anomalies that …