Genetics of congenital heart disease

K Williams, J Carson, C Lo - Biomolecules, 2019 - mdpi.com
Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal
models and humans have indicated a genetic etiology for CHD. About 400 genes have been …

How to make a heart: the origin and regulation of cardiac progenitor cells

SD Vincent, ME Buckingham - Current topics in developmental biology, 2010 - Elsevier
The formation of the heart is a complex morphogenetic process that depends on the
spatiotemporally regulated contribution of cardiac progenitor cells. These mainly derive from …

Contractile defect caused by mutation in MYBPC3 revealed under conditions optimized for human PSC-cardiomyocyte function

MJ Birket, MC Ribeiro, G Kosmidis, D Ward… - Cell reports, 2015 - cell.com
Maximizing baseline function of human pluripotent stem cell-derived cardiomyocytes (hPSC-
CMs) is essential for their effective application in models of cardiac toxicity and disease …

[HTML][HTML] TGF-β signaling is associated with endocytosis at the pocket region of the primary cilium

CA Clement, KD Ajbro, K Koefoed, ML Vestergaard… - Cell reports, 2013 - cell.com
Transforming growth factor β (TGF-β) signaling is regulated by clathrin-dependent
endocytosis (CDE) for the control of cellular processes during development and in tissue …

A change of heart: new roles for cilia in cardiac development and disease

L Djenoune, K Berg, M Brueckner… - Nature Reviews Cardiology, 2022 - nature.com
Although cardiac abnormalities have been observed in a growing class of human disorders
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …

Myc-nick: a cytoplasmic cleavage product of Myc that promotes α-tubulin acetylation and cell differentiation

M Conacci-Sorrell, C Ngouenet, RN Eisenman - Cell, 2010 - cell.com
The Myc oncoprotein family comprises transcription factors that control multiple cellular
functions and are widely involved in oncogenesis. Here we report the identification of Myc …

[HTML][HTML] Interplay between cardiac function and heart development

L Andrés-Delgado, N Mercader - … et Biophysica Acta (BBA)-Molecular Cell …, 2016 - Elsevier
Mechanotransduction refers to the conversion of mechanical forces into biochemical or
electrical signals that initiate structural and functional remodeling in cells and tissues. The …

Embryonic cardiac chamber maturation: Trabeculation, conduction, and cardiomyocyte proliferation

LA Samsa, B Yang, J Liu - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Congenital heart diseases are some of the most common human birth defects. Though some
congenital heart defects can be surgically corrected, treatment options for other congenital …

Primary cilia-mediated mechanotransduction in human mesenchymal stem cells

DA Hoey, S Tormey, S Ramcharan, FJ O'Brien… - Stem …, 2012 - academic.oup.com
Physical loading is a potent stimulus required to maintain bone homeostasis, partly through
the renewal and osteogenic differentiation of mesenchymal stem cells (MSCs). However, the …

Developmental and regenerative paradigms of cilia regulated hedgehog signaling

D Kopinke, AM Norris, S Mukhopadhyay - Seminars in cell & …, 2021 - Elsevier
Primary cilia are immotile appendages that have evolved to receive and interpret a variety of
different extracellular cues. Cilia play crucial roles in intercellular communication during …