Advances in genetics, signaling, & modeling of venous malformations

Research History
Genetic & Molecular Drivers - TIE2-L914F PIK3CA-H1047R
Experimental Models - hiPSC, Vessel-on-a-chip & Knock-in🐭

Lovely & timely reading😁

@boscololab.bsky.social #FrontCVM 2026
www.frontiersin.org/journals/car...

#CaseReport

Heterozygous ERG (#EndothelialCell lineage marker) p.Arg212Leu➡️
Abdominal aortic & multi-arterial Aneurysm 52 y/o proband
Cervical artery dissection➡️ischemic stroke at 18 y/o son of proband

#FrontCVM 2025
www.frontiersin.org/journals/car...

Lysyl Oxidases #AorticDissection

21 type A dissection vs 6 control #Aorta
⏫LOXL2/3
⏬LOXL4
↔️LOX LOXL1

LOXL2 shRNA in #SmoothMuscleCell
⏬MMP2 (not MMP9)
⏬COL5A1 ELN mRNA
⏫p38 activity
⏫H3K4/9/36 methyl
↔️Contractile phenotype Autophagy Apoptosis

#FrontCVM 2021
www.frontiersin.org/journals/car...

On #VasaVasorum remodeling in human #ThoracicAorticDisease

GLUT1+ hypoxic medial SMC are crying out for more oxygen!💀

Medial Hypoxia and Adventitial Vasa Vasorum Remodeling in Human Ascending Aortic Aneurysm

@mariebillaud.bsky.social #FrontCVM 2018
www.frontiersin.org/journals/car...