The emerging role of GATA transcription factors in development and disease

MHFM Lentjes, HEC Niessen, Y Akiyama… - Expert reviews in …, 2016 - cambridge.org
The GATA family of transcription factors consists of six proteins (GATA1-6) which are
involved in a variety of physiological and pathological processes. GATA1/2/3 are required …

Implementing artificial intelligence and digital health in resource-limited settings? Top 10 lessons we learned in congenital heart defects and cardiology

NE Thomford, CD Bope, FE Agamah… - Omics: a journal of …, 2020 - liebertpub.com
Artificial intelligence (AI) is one of the key drivers of digital health. Digital health and AI
applications in medicine and biology are emerging worldwide, not only in resource-rich but …

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

A Bonnefond, M Boissel, A Bolze, E Durand… - Nature …, 2020 - nature.com
Genome-wide association studies have identified 240 independent loci associated with type
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

B Yang, W Zhou, J Jiao, JB Nielsen, MR Mathis… - Nature …, 2017 - nature.com
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor
for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 …

Elucidation of the genetic causes of bicuspid aortic valve disease

J Gehlen, A Stundl, R Debiec, F Fontana… - Cardiovascular …, 2023 - academic.oup.com
Aims The present study aims to characterize the genetic risk architecture of bicuspid aortic
valve (BAV) disease, the most common congenital heart defect. Methods and results We …

GATA4 regulates Fgf16 to promote heart repair after injury

W Yu, X Huang, X Tian, H Zhang, L He… - …, 2016 - journals.biologists.com
Although the mammalian heart can regenerate during the neonatal stage, this endogenous
regenerative capacity is lost with age. Importantly, replication of cardiomyocytes has been …

GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve

LM Shi, JW Tao, XB Qiu, J Wang… - International …, 2014 - spandidos-publications.com
Bicuspid aortic valve (BAV) is the most common form of congenital cardiovascular defect in
humans worldwide and is responsible for substantial morbidity and mortality. Accumulating …

GATA4 loss of function in liver cancer impedes precursor to hepatocyte transition

FO Enane, WH Shuen, X Gu, E Quteba… - The Journal of …, 2017 - Am Soc Clin Investig
The most frequent chromosomal structural loss in hepatocellular carcinoma (HCC) is of the
short arm of chromosome 8 (8p). Genes on the remaining homologous chromosome …

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

R Xiang, LL Fan, H Huang, BB Cao, XP Li, DQ Peng… - Gene, 2014 - Elsevier
Congenital heart disease (CHD) is the most common birth defect in humans, and the
etiology of most CHD remains to be elusive. Atrial septal defect (ASD) makes up 30–40% of …

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders

T Prendiville, PY Jay, WT Pu - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Study of monogenic congenital heart disease (CHD) has provided entry points to gain new
understanding of heart development and the molecular pathogenesis of CHD. In this review …