Genetic Aspects of Vascular Malformations

#CapillaryMalformation GNAQ GNA11 PIK3CA PIK3R1
#CCM KRIT1 CCM2 PDCD10 MAP3K3
#VenousMalformation TEK PIK3CA MAP3K3 GLMN
#AVM KRAS MAP2K1 BRAF HRAS RIT1
#HHT ENG ALK1 GDF2 SMAD4
#LymphaticMalformation

#PresseMed 2025
www.sciencedirect.com/science/arti...

Endothelial Cell Competition in #VenousMalformation

Hyper-proliferative Tie2-L914F mutant ECs secret Semaphorin 3A & 3F to repel wild-type counterparts

Evidence from
1⃣mixed EC xenograft🐭
2⃣mixed ECs in 3D fibrin #Lumenogenesis

@boscololab.bsky.social #ATVB 2025
www.ahajournals.org/doi/10.1161/...

🌟 Dr. Linda’s Fact of the Week🌟

Dr. Linda, PhD, President and Founder of the Vascular Birthmarks Foundation.

See our Venous Malformation NEW Parent Package here: birthmark.org/birthmark/ve...

#MedicalFacts #DrLindasFactOfTheWeek #VenousMalformation #BlueRubberBlebNevusSyndrome

🌟 Dr. Linda’s Fact of the Week 🌟

"Venous malformations typically have a slow and continued growth cycle (without treatment)."

See our NEW Parent Package here: birthmark.org/npp-vm/

#VascularBirthmarks #VBF #MedicalFacts #DrLindasFactOfTheWeek #VenousMalformation

🌟 Dr. Linda’s Fact of the Week 🌟

"The TIE-2 gene has been associated with some patients who have a venous malformation"

See our NEW Parent Package here: birthmark.org/npp-vm/

#VascularBirthmarks #PortWineStainBirthmarks #VBF #DrLindasFactOfTheWeek #VenousMalformation

We hope these findings bring us closer to better treatments for this challenging condition. #vascularbiology #PIK3CA #venousmalformation

Huge thanks to our fantastic collaborators Michael Potente, René Hägerling, Friedrich Kapp, @mvikkula.bsky.social, Laurence Boon, @ruibenedito.bsky.social

🌟 Dr. Linda’s Fact of the Week
"Glomuvenous malformations are a type of venous malformation that contains glomus cells in abnormal vessels."

See our Venous Malformation New Parent Package here: birthmark.org/npp-vm/

#VascularBirthmarks #VBF #MedicalFacts #DrLindasFactOfTheWeek #VenousMalformation

Years ago, using chemical genetics in zebrafish, I elucidated the role of #PI3K in vein specification. Just spoke to someone who has #VenousMalformation d/t somatic activating mutation in PI3K subunit. Learning how this knowledge is helping him made my day! #SpartansWill
@zebrafishrock.bsky.social

Learn more about #VascularBirthmarks and help us spread awareness: birthmark.org/types-of-bir...

#VascularBirthmarksFoundation
#hemangioma
#portwinestain
#venousmalformation
#arterivenousmalformation
#sturgewebersyndrome
#CMTC
#LymphaticMalformation
#klippeltrenaunaysyndrome
#phacesyndrome

hiPSC-derived venous #EndothelialCell #iVEC

Mesoderm progenitors+VEGFA+FGF2+RA+DAPT

MEF2C as a putative venous endothelial TF

Retain EphB4 venous marker in vivo

Modeling TIE2L914F #VenousMalformation
DRUG-seq #DeepLearning➡️Bosutinib

#CellStemCell 2024
www.sciencedirect.com/science/arti...