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 …

Preterm congenital heart disease and neurodevelopment: the importance of looking beyond the initial hospitalization

JA Katz, PT Levy, SC Butler, A Sadhwani… - Journal of …, 2023 - nature.com
Congenital heart disease (CHD) and prematurity are leading causes of infant mortality in the
United States. Infants with CHD born prematurely are often described as facing “double …

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

HM Qureshi, KY Mekbib, G Allington… - Cerebral …, 2023 - academic.oup.com
Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain
and present significant challenges for clinical management. While most cases of ACs are …

[HTML][HTML] Role of miR-182 in cardiovascular and cerebrovascular diseases

G Pei, L Chen, Y Wang, C He, C Fu… - Frontiers in Cell and …, 2023 - frontiersin.org
The treatment of cardiovascular and cerebrovascular diseases have undergone major
advances in recent decades, allowing for a more effective prevention of cardiovascular and …

[HTML][HTML] Synergistic protective effects of folic acid and resveratrol against fine particulate matter-induced heart malformations in zebrafish embryos

J Chen, M Zhang, H Zou, S Aniagu, Y Jiang… - … and environmental safety, 2022 - Elsevier
Ambient fine particulate matter (PM2. 5) is a major environmental health problem worldwide,
and recent studies indicate that maternal PM2. 5 exposure is closely associated with …

SMAD4 loss-of-function mutation predisposes to congenital heart disease

Y Wang, YJ Xu, CX Yang, RT Huang, S Xue… - European Journal of …, 2023 - Elsevier
Congenital heart disease (CHD) represents the most frequent developmental deformity in
human beings and accounts for substantial morbidity and mortality worldwide. Accumulating …

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis

K Reilly, S Sonner, N McCay, DL Rolnik… - Prenatal …, 2024 - Wiley Online Library
Objectives To determine the incremental yield of prenatal exome sequencing (PES) over
standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA …

[HTML][HTML] SMAD1 Loss-of-Function variant responsible for congenital heart disease

Z Wang, XH Qiao, YJ Xu, XY Liu, RT Huang… - BioMed Research …, 2022 - hindawi.com
As the most common form of developmental malformation affecting the heart and
endothoracic great vessels, congenital heart disease (CHD) confers substantial morbidity …

[HTML][HTML] Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus

G Allington, PQ Duy, J Ryou, A Singh, E Kiziltug… - Journal of …, 2021 - thejns.org
Congenital hydrocephalus (CH), characterized by incomplete clearance of CSF and
subsequent enlargement of brain ventricles, is the most common congenital brain disorder …

[HTML][HTML] Insights into the genetic architecture of congenital heart disease from animal modeling

W Zhu, CW Lo - Zoological Research, 2023 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is observed in up to 1% of live births and is one of the
leading causes of mortality from birth defects. While hundreds of genes have been …