Hereditary haemorrhagic telangiectasia
R Hermann, CL Shovlin, RS Kasthuri, M Serra… - Nature reviews Disease …, 2025 - nature.com
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an
autosomal dominant trait and caused by loss-of-function pathogenic variants in genes …
autosomal dominant trait and caused by loss-of-function pathogenic variants in genes …
An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms
Endoglin (ENG) is expressed on the surface of endothelial cells (ECs) where it efficiently
binds circulating BMP9 and BMP10 ligands to initiate activin A receptor like type 1 (ALK1) …
binds circulating BMP9 and BMP10 ligands to initiate activin A receptor like type 1 (ALK1) …
A human model of arteriovenous malformation (AVM)-on-a-chip reproduces key disease hallmarks and enables drug testing in perfused human vessel networks
K Soon, M Li, R Wu, A Zhou, N Khosraviani, WD Turner… - Biomaterials, 2022 - Elsevier
Brain arteriovenous malformations (AVMs) are a disorder wherein abnormal, enlarged blood
vessels connect arteries directly to veins, without an intervening capillary bed. AVMs are one …
vessels connect arteries directly to veins, without an intervening capillary bed. AVMs are one …
ANG2 blockade diminishes proangiogenic cerebrovascular defects associated with models of hereditary hemorrhagic telangiectasia
X Zhou, JC Pucel, A Nomura-Kitabayashi… - … and Vascular Biology, 2023 - Am Heart Assoc
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder
characterized by arteriovenous malformations and blood vessel enlargements. However …
characterized by arteriovenous malformations and blood vessel enlargements. However …
Evaluation of Aav capsids and delivery approaches for hereditary hemorrhagic telangiectasia gene therapy
A Yadav, R Liang, K Press, A Schmidt… - Translational Stroke …, 2024 - Springer
Nosebleeds and intracranial hemorrhage from brain arteriovenous malformations (bAVMs)
are among the most devastating symptoms of patients with hereditary hemorrhagic …
are among the most devastating symptoms of patients with hereditary hemorrhagic …
CNS resident macrophages enhance dysfunctional angiogenesis and circulating monocytes infiltration in brain arteriovenous malformation
Myeloid immune cells are abundant in both ruptured and unruptured brain arteriovenous
malformations (bAVMs). The role of central nervous system (CNS) resident and circulating …
malformations (bAVMs). The role of central nervous system (CNS) resident and circulating …
CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia
S Dinakaran, S Qutaina, H Zhao, Y Tang… - Nature Cardiovascular …, 2024 - nature.com
Increased endothelial cell proliferation is a hallmark of arteriovenous malformations (AVMs)
in hereditary hemorrhagic telangiectasia (HHT). Here, we report a cyclin-dependent kinase …
in hereditary hemorrhagic telangiectasia (HHT). Here, we report a cyclin-dependent kinase …
Cellular loci involved in the development of brain arteriovenous malformations
Brain arteriovenous malformations (bAVMs) are abnormal vessels that are prone to rupture,
causing life-threatening intracranial bleeding. The mechanism of bAVM formation is poorly …
causing life-threatening intracranial bleeding. The mechanism of bAVM formation is poorly …
Increased Collagen I/Collagen III Ratio Is Associated with Hemorrhage in Brain Arteriovenous Malformations in Human and Mouse
Background: The increase in the collagen I (COL I)/COL III ratio enhances vessel wall
stiffness and renders vessels less resistant to blood flow and pressure changes. Activated …
stiffness and renders vessels less resistant to blood flow and pressure changes. Activated …
[HTML][HTML] Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition
JY Jeong, AE Bafor, BH Freeman, PR Chen, ES Park… - Biomedicines, 2024 - mdpi.com
Brain arteriovenous malformations (bAVMs) substantially increase the risk for intracerebral
hemorrhage (ICH), which is associated with significant morbidity and mortality. However, the …
hemorrhage (ICH), which is associated with significant morbidity and mortality. However, the …