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 …

[HTML][HTML] Imaging of peripheral vascular malformations—current concepts and future perspectives

VF Schmidt, M Masthoff, M Czihal, B Cucuruz… - Molecular and cellular …, 2021 - Springer
Vascular Malformations belong to the spectrum of orphan diseases and can involve all
segments of the vascular tree: arteries, capillaries, and veins, and similarly the lymphatic …

The onset of PI3K‐related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib

P Kobialka, H Sabata, O Vilalta, L Gouveia… - EMBO Molecular …, 2022 - embopress.org
Low‐flow vascular malformations are congenital overgrowths composed of abnormal blood
vessels potentially causing pain, bleeding and obstruction of different organs. These …

Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease)

Y Alkhalid, Z Darji, R Shenkar, M Clancy… - Vascular …, 2023 - journals.sagepub.com
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease,
is a rare disorder with a case prevalence as high as one in 5000, causing arteriovenous …

Key biomarkers in cerebral arteriovenous malformations: Updated review

H Tanzadehpanah, MHS Modaghegh… - The Journal of Gene …, 2023 - Wiley Online Library
The formation of vascular networks consisting of arteries, capillaries, and veins is vital in
embryogenesis. It is also crucial in adulthood for the formation of a functional vasculature …

[HTML][HTML] The role of TGF-β signaling in saphenous vein graft failure after peripheral arterial disease bypass surgery

C He, P Ye, X Zhang, E Esmaeili, Y Li, P Lü… - International journal of …, 2023 - mdpi.com
Saphenous vein bypass grafting is an effective technique used to treat peripheral arterial
disease (PAD). However, restenosis is the major clinical challenge for the graft vessel …

[HTML][HTML] Endothelial cell cycle state determines propensity for arterial-venous fate

NW Chavkin, G Genet, M Poulet, ED Jeffery… - Nature …, 2022 - nature.com
During blood vessel development, endothelial cells become specified toward arterial or
venous fates to generate a circulatory network that provides nutrients and oxygen to, and …

[HTML][HTML] Vascular malformations: An overview of their molecular pathways, detection of mutational profiles and subsequent targets for drug therapy

A Mansur, I Radovanovic - Frontiers in Neurology, 2023 - frontiersin.org
Vascular malformations are anomalies in vascular development that portend a significant
risk of hemorrhage, morbidity and mortality. Conventional treatments with surgery …

Orbital vascular anomalies: a nomenclatorial, etiological, and nosologic conundrum

HA Tawfik, JJ Dutton - Ophthalmic Plastic & Reconstructive …, 2022 - journals.lww.com
Purpose: Vascular anomalies are a heterogeneous group of disorders that frequently
present in the periorbital region. They encompass 2 broad entities: vascular tumors, which …

Cellular heterogeneity and immune microenvironment revealed by single-cell transcriptome in venous malformation and cavernous venous malformation

Y Li, J Yang, Y Huang, S Ge, X Song, R Jia… - Journal of Molecular and …, 2022 - Elsevier
Venous malformation (VM) and cavernous venous malformation (CVM) are two types of
vascular malformations. Even if the two diseases are similar in appearance and imaging, the …