Transcription factor pathways and congenital heart disease

DJ McCulley, BL Black - Current topics in developmental biology, 2012 - Elsevier
Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

Mechanisms of T-box gene function in the developing heart

F Greulich, C Rudat, A Kispert - Cardiovascular research, 2011 - academic.oup.com
The multi-chambered mammalian heart arises from a simple tube by polar elongation,
myocardial differentiation and morphogenesis. Members of the large family of T-box (Tbx) …

Understanding tissue-specific gene regulation

AR Sonawane, J Platig, M Fagny, CY Chen… - Cell reports, 2017 - cell.com
Although all human tissues carry out common processes, tissues are distinguished by gene
expression patterns, implying that distinct regulatory programs control tissue specificity. In …

iPSC-derived cardiomyocytes reveal abnormal TGF-β signalling in left ventricular non-compaction cardiomyopathy

K Kodo, SG Ong, F Jahanbani, V Termglinchan… - Nature cell …, 2016 - nature.com
Left ventricular non-compaction (LVNC) is the third most prevalent cardiomyopathy in
children and its pathogenesis has been associated with the developmental defect of the …

Of mice and men: molecular genetics of congenital heart disease

TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function

T Shen, I Aneas, N Sakabe… - The Journal of …, 2011 - Am Soc Clin Investig
Human mutations in or variants of TBX20 are associated with congenital heart disease,
cardiomyopathy, and arrhythmias. To investigate whether cardiac disease in patients with …

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

MG Posch, M Gramlich, M Sunde, KR Schmitt… - Journal of medical …, 2010 - jmg.bmj.com
Background Ostium secundum atrial septal defects (ASDII) account for approximately 10%
of all congenital heart defects (CHD), and mutations in cardiac transcription factors …

A molecular and genetic outline of cardiac morphogenesis

MS Rana, VM Christoffels, AFM Moorman - Acta physiologica, 2013 - Wiley Online Library
Perturbations in cardiac development result in congenital heart disease, the leading cause
of birth defect–related infant morbidity and mortality. Advances in cardiac developmental …

The Role of Tbx20 in Cardiovascular Development and Function

Y Chen, D Xiao, L Zhang, CL Cai, BY Li… - Frontiers in Cell and …, 2021 - frontiersin.org
Tbx20 is a member of the Tbx1 subfamily of T-box-containing genes and is known to play a
variety of fundamental roles in cardiovascular development and homeostasis as well as …

Human ESC-derived hemogenic endothelial cells undergo distinct waves of endothelial to hematopoietic transition

S Rafii, CC Kloss, JM Butler, M Ginsberg… - Blood, The Journal …, 2013 - ashpublications.org
Several studies have demonstrated that hematopoietic cells originate from endothelium in
early development; however, the phenotypic progression of progenitor cells during human …