GATA transcription factors in development and disease

M Tremblay, O Sanchez-Ferras, M Bouchard - Development, 2018 - journals.biologists.com
The GATA family of transcription factors is of crucial importance during embryonic
development, playing complex and widespread roles in cell fate decisions and tissue …

[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 …

Genetic insights into non-syndromic Tetralogy of Fallot

NJ Althali, KE Hentges - Frontiers in Physiology, 2022 - frontiersin.org
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great
vessels that are present at birth. CHD affects around 1% of all newborns worldwide …

[HTML][HTML] TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus

RT Huang, J Wang, S Xue, XB Qiu, HY Shi… - … journal of medical …, 2017 - ncbi.nlm.nih.gov
Congenital heart disease (CHD), the most common form of developmental abnormality in
humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects …

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 …

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 …

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing

M Kammoun, E Souche, P Brady, J Ding… - Prenatal …, 2018 - Wiley Online Library
Background Congenital diaphragmatic hernia (CDH) is characterized by a defective closure
of the diaphragm occurring as an isolated defect in 60% of cases. Lung size, liver herniation …

[HTML][HTML] MEF2C loss-of-function mutation contributes to congenital heart defects

XH Qiao, F Wang, XL Zhang, RT Huang… - … journal of medical …, 2017 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common type of developmental abnormality in
humans, and is a leading cause for substantially increased morbidity and mortality in …

KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5

R Darwich, W Li, A Yamak, H Komati… - Human molecular …, 2017 - academic.oup.com
TBX5, a member of the T-box family of transcription factors, is a dosage sensitive regulator of
heart development. Mutations in TBX5 are responsible for Holt-Oram Syndrome, an …

A HAND to TBX5 explains the link between thalidomide and cardiac diseases

A Khalil, R Tanos, N El-Hachem, M Kurban… - Scientific Reports, 2017 - nature.com
Congenital heart disease is the leading cause of death in the first year of life. Mutations only
in few genes have been linked to some cases of CHD. Thalidomide was used by pregnant …