Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - Am Heart Assoc
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

The quiescent endothelium: signalling pathways regulating organ-specific endothelial normalcy

N Ricard, S Bailly, C Guignabert… - Nature Reviews Cardiology, 2021 - nature.com
Endothelial cells are at the interface between circulating blood and tissues. This position
confers on them a crucial role in controlling oxygen and nutrient exchange and cellular …

SMAD4 maintains the fluid shear stress set point to protect against arterial-venous malformations

K Banerjee, Y Lin, J Gahn, J Cordero… - The Journal of …, 2023 - Am Soc Clin Investig
Vascular networks form, remodel, and mature under the influence of both fluid shear stress
(FSS) and soluble factors. Physiological FSS promotes and maintains vascular stability via …

Specialized endothelial tip cells guide neuroretina vascularization and blood-retina-barrier formation

G Zarkada, JP Howard, X Xiao, H Park, M Bizou… - Developmental cell, 2021 - cell.com
Endothelial tip cells guiding tissue vascularization are primary targets for angiogenic
therapies. Whether tip cells require differential signals to develop their complex branching …

Defective flow-migration coupling causes arteriovenous malformations in hereditary hemorrhagic telangiectasia

H Park, J Furtado, M Poulet, M Chung, S Yun, S Lee… - Circulation, 2021 - Am Heart Assoc
Background: Activin receptor-like kinase 1 (ALK1) is an endothelial transmembrane serine
threonine kinase receptor for BMP family ligands that plays a critical role in cardiovascular …

Vascular endothelial cell specification in health and disease

C Marziano, G Genet, KK Hirschi - Angiogenesis, 2021 - Springer
There are two vascular networks in mammals that coordinately function as the main supply
and drainage systems of the body. The blood vasculature carries oxygen, nutrients …

Immune-interacting lymphatic endothelial subtype at capillary terminals drives lymphatic malformation

M Petkova, M Kraft, S Stritt, I Martinez-Corral… - Journal of Experimental …, 2023 - rupress.org
Oncogenic mutations in PIK3CA, encoding p110α-PI3K, are a common cause of venous and
lymphatic malformations. Vessel type–specific disease pathogenesis is poorly understood …

Endoglin prevents vascular malformation by regulating flow-induced cell migration and specification through VEGFR2 signalling

Y Jin, L Muhl, M Burmakin, Y Wang, AC Duchez… - Nature cell …, 2017 - nature.com
Abstract Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene
endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1 …

Future treatments for hereditary hemorrhagic telangiectasia

F Robert, A Desroches-Castan, S Bailly… - Orphanet journal of rare …, 2020 - Springer
Abstract Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler
syndrome, is a genetic vascular disorder affecting 1 in 5000–8000 individuals worldwide …

Activation of Smad2/3 signaling by low fluid shear stress mediates artery inward remodeling

H Deng, E Min, N Baeyens, BG Coon… - Proceedings of the …, 2021 - National Acad Sciences
Endothelial cell (EC) sensing of wall fluid shear stress (FSS) from blood flow governs vessel
remodeling to maintain FSS at a specific magnitude or set point in healthy vessels. Low FSS …