Shear stress and pathophysiological PI3K involvement in vascular malformations

S Abdelilah-Seyfried, R Ola - The Journal of Clinical …, 2024 - Am Soc Clin Investig
Molecular characterization of vascular anomalies has revealed that affected endothelial
cells (ECs) harbor gain-of-function (GOF) mutations in the gene encoding the catalytic α …

Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation

S Wang, X Deng, Y Wu, Y Wu, S Zhou, J Yang… - Human Genetics, 2023 - Springer
Brain arteriovenous malformation (BAVM) is a rare but serious cerebrovascular disease
whose pathogenesis has not been fully elucidated. Studies have found that epigenetic …

Investigation of the genetic determinants of telangiectasia and solid organ arteriovenous malformation formation in hereditary hemorrhagic telangiectasia (HHT)

KJ Whitehead, D Toydemir… - International …, 2024 - pmc.ncbi.nlm.nih.gov
Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions of
Hereditary Hemorrhagic Telangiectasia (HHT). Somatic second-hit loss-of-function …

Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations

J Ren, D Wang, L Wang, C Jiang, A Tian, Z Cui… - Acta Neuropathologica …, 2025 - Springer
Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied
clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA …

[HTML][HTML] Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations

WY Aw, A Sawhney, M Rathod, CP Whitworth… - APL …, 2025 - pubs.aip.org
Somatic activating mutations in PIK3CA are common drivers of vascular and lymphatic
malformations. Despite common biophysical signatures of tissues susceptible to lesion …

Cerebral vascular malformations: pathogenesis and therapy

Q He, R Huo, Y Sun, Z Zheng, H Xu, S Zhao, Y Ni… - MedComm, 2024 - Wiley Online Library
Cerebral vascular malformations (CVMs), particularly cerebral cavernous malformations and
cerebral arteriovenous malformations, pose significant neurological challenges due to their …

Map** cell diversity in human sporadic cerebral cavernous malformations

X Hou, F Liang, J Li, Y Yang, C Wang, T Qi, W Sheng - Gene, 2024 - Elsevier
Background Cerebral cavernous malformation (CCM) is a low-flow, bleeding-prone vascular
disease that can cause cerebral hemorrhage, seizure and neurological deficits. Its …

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy

Z Zhang, J Deng, W Sun, Z Wang - Brain and Behavior, 2025 - Wiley Online Library
Introduction Cerebral cavernous malformation (CCM) is a type of cerebrovascular
abnormality in the central nervous system linked to both germline and somatic genetic …

[HTML][HTML] Genotype‐phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3‐kinase catalytic subunit …

J Wang, J Tang, Y Yang, Y Jiao, R Huo… - Clinical and …, 2024 - ncbi.nlm.nih.gov
Dear Editor, Our study suggested that in familial multiple cerebral cavernous malformations
(CCMs), symptomatic intracerebral haemorrhage (ICH) lesions and dot-sized lesions …

Evaluation of BR1 and BI30 AAVs for Brain Endothelial Tropism

FM Marottoli, D Balu, R Chaudhary, SE Lutz, LM Tai - ASN neuro, 2024 - Taylor & Francis
Brain endothelial cells are critical for homeostasis of the central nervous system. Novel
adeno-associated viruses (AAV) with brain endothelial cell tropism have been developed …