[HTML][HTML] Arteriovenous malformations—current understanding of the pathogenesis with implications for treatment

K Schimmel, MK Ali, SY Tan, J Teng, HM Do… - International Journal of …, 2021 - mdpi.com
Arteriovenous malformations are a vascular anomaly typically present at birth, characterized
by an abnormal connection between an artery and a vein (bypassing the capillaries). These …

Bone morphogenetic proteins in vascular homeostasis and disease

MJ Goumans, A Zwijsen… - Cold Spring Harbor …, 2018 - cshperspectives.cshlp.org
It is well established that control of vascular morphogenesis and homeostasis is regulated
by vascular endothelial growth factor (VEGF), fibroblast growth factor (FGF), Delta-like 4 …

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 …

[HTML][HTML] Somatic mutations in vascular malformations of hereditary hemorrhagic telangiectasia result in bi-allelic loss of ENG or ACVRL1

DA Snellings, CJ Gallione, DS Clark, NT Vozoris… - The American Journal of …, 2019 - cell.com
Hereditary hemorrhagic telangiectasia (HHT) is a Mendelian disease characterized by
vascular malformations (VMs) including visceral arteriovenous malformations and mucosal …

[HTML][HTML] Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challenges

S Tual-Chalot, SP Oh, HM Arthur - Frontiers in genetics, 2015 - frontiersin.org
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by a multi-
systemic vascular dysplasia and hemorrhage. The precise factors leading to these vascular …

[HTML][HTML] Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia

AM Crist, AR Lee, NR Patel, DE Westhoff… - Angiogenesis, 2018 - Springer
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder
that leads to abnormal connections between arteries and veins termed arteriovenous …

Selective endothelial hyperactivation of oncogenic KRAS induces brain arteriovenous malformations in mice

ES Park, S Kim, S Huang, JY Yoo, J Körbelin… - Annals of …, 2021 - Wiley Online Library
Objective Brain arteriovenous malformations (bAVMs) are a leading cause of hemorrhagic
stroke and neurological deficits in children and young adults, however, no pharmacological …

[HTML][HTML] Potential second-hits in hereditary hemorrhagic telangiectasia

C Bernabeu, P Bayrak-Toydemir, J McDonald… - Journal of Clinical …, 2020 - mdpi.com
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder
that presents with telangiectases in skin and mucosae, and arteriovenous malformations …

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 …

Angiopoietin-2 inhibition rescues arteriovenous malformation in a Smad4 hereditary hemorrhagic telangiectasia mouse model

AM Crist, X Zhou, J Garai, AR Lee, J Thoele, C Ullmer… - Circulation, 2019 - Am Heart Assoc
Background: Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular
disorder caused by heterozygous, loss-of-function mutations in 4 transforming growth factor …