ISSVA classification of vascular anomalies and molecular biology

K Kunimoto, Y Yamamoto, M Jinnin - International journal of molecular …, 2022 - mdpi.com
Vascular anomalies include various diseases, which are classified into two types according
to the International Society for the Study of Vascular Anomalies (ISSVA) classification …

Childhood stroke

PB Sporns, HJ Fullerton, S Lee, H Kim, WD Lo… - Nature Reviews …, 2022 - nature.com
Stroke is an important cause of neurological morbidity in children; most survivors have
permanent neurological deficits that affect the remainder of their life. Stroke in childhood, the …

A single-cell atlas of the normal and malformed human brain vasculature

EA Winkler, CN Kim, JM Ross, JH Garcia, E Gil, I Oh… - Science, 2022 - science.org
Cerebrovascular diseases are a leading cause of death and neurologic disability. Further
understanding of disease mechanisms and therapeutic strategies requires a deeper …

Sotorasib for Vascular Malformations Associated with KRAS G12C Mutation

A Fraissenon, C Bayard, G Morin… - … England Journal of …, 2024 - Mass Medical Soc
KRAS gain-of-function mutations are frequently observed in sporadic arteriovenous
malformations. The mechanisms underlying the progression of such KRAS-driven …

Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations

T Hong, X Xiao, J Ren, B Cui, Y Zong, J Zou, Z Kou… - Brain, 2021 - academic.oup.com
Cavernous malformations affecting the CNS occur in∼ 0.16–0.4% of the general population.
The majority (85%) of cavernous malformations are in a sporadic form, but the genetic …

Endovascular treatment in the multimodality management of brain arteriovenous malformations: report of the Society of NeuroInterventional Surgery Standards and …

R De Leacy, SA Ansari, CM Schirmer… - Journal of …, 2022 - jnis.bmj.com
Background The purpose of this review is to summarize the data available for the role of
angiography and embolization in the comprehensive multidisciplinary management of brain …

Selective endothelial hyperactivation of oncogenic KRAS induces brain arteriovenous malformations in mice

ES Park, S Kim, S Huang, JY Yoo, J Körbelin… - Annals of …, 2021 - Wiley Online Library
Objective Brain arteriovenous malformations (bAVMs) are a leading cause of hemorrhagic
stroke and neurological deficits in children and young adults, however, no pharmacological …

A human model of arteriovenous malformation (AVM)-on-a-chip reproduces key disease hallmarks and enables drug testing in perfused human vessel networks

K Soon, M Li, R Wu, A Zhou, N Khosraviani, WD Turner… - Biomaterials, 2022 - Elsevier
Brain arteriovenous malformations (AVMs) are a disorder wherein abnormal, enlarged blood
vessels connect arteries directly to veins, without an intervening capillary bed. AVMs are one …

Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations

J Ren, Y Huang, Y Ren, T Tu, B Qiu, D Ai, Z Bi, X Bai… - Brain, 2023 - academic.oup.com
Cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations
(SCCMs) are common vascular abnormalities of the CNS that can lead to seizure …

Hereditary haemorrhagic telangiectasia, an inherited vascular disorder in need of improved evidence-based pharmaceutical interventions

RO Snodgrass, TJA Chico, HM Arthur - Genes, 2021 - mdpi.com
Hereditary haemorrhagic telangiectasia (HHT) is characterised by arteriovenous
malformations (AVMs). These vascular abnormalities form when arteries and veins directly …