EPAS1/HIF2α A530V (gain-of-function variant, oxygen-insensitive)
#VascularMalformation

👉Human N=9 (16-63 y/o)
Retinal capillary hemangioma
Ocular/Spinal venous malformation
Intracranial venous/cavernous malformation

+Evidence of Epas1 A529V🐭

@insight.jci.org 2021
insight.jci.org/articles/vie...

#VascularMalformation

Tie2+ Endothelial Cell Tie2 L914F transgenic🐭▶️
Early defects in vascular development (E9.5)
👉Yolk Sac
👉Pharyngeal Arch Arteries/Aortae
👉Cranial Vessels
👉Intersomitic Vessels
👉E13.5 Death

@boscololab.bsky.social #DevDyn 2025
anatomypubs.onlinelibrary.wiley.com/doi/full/10....

#VascularMalformation

Capillary/Microvascular Malformation in patients Brain (#SturgeWeberSyndrome) Skin (Port-wine stain) GNAQ p.R183Q

Beautiful histological vessel staining & excellent sources of antibodies against human vasculature😍

#Angiogenesis 2024
link.springer.com/article/10.1...

Vascular Malformations. A new clinical trial at MAGIC Clinic under review. Venous and Lymphatic Malformations, Klippel-Trénaunay, CLOVES syndromes.

viperclinicaltrials.com to register for more information

#vascularmalformation

Neither #Microbiome nor LPS-TLR4 #Signaling is required for #CerebralCavernousMalformations formation in the adult #MouseModel insight.jci.org/articles/vie... #Brain #VascularMalformation #NullResult #TranslationalScience

angiodysplasie.ch/en/rare-dise...
On 27 February 2026, the Swiss Angiodysplasia Association will take part in the national conference for Rare Disease Day in Bellinzona.
#switzerland #rarediseaseday #bellinzona #raredisease #vascularmalformation #angiodysplasia

#VascularMalformation

Tie2+ or Apln+ Endothelial Cell Tie2 R848W (activating variant)🐭
👉Vascular lesions (CD34-hi, αSMA+) in🫁(E18.5)
👉⏬Retinal radial vascular outgrowth (P7)
👉⏫Retinal capillary αSMA+ Pericytes

TRAIL/TNFSF10 Angiocrine to mural cell🤔

#IntJMedSci 2025
www.medsci.org/v22p2518.htm

Our new flyer is online:
angiodysplasie.ch/wp-content/u...

#rarediseases #vascularmalformation #angiodysplasia #switzerland