Cerebral cavernous malformation: from mechanism to therapy

DA Snellings, CC Hong, AA Ren… - Circulation …, 2021 - ahajournals.org
Cerebral cavernous malformations are acquired vascular anomalies that constitute a
common cause of central nervous system hemorrhage and stroke. The past 2 decades have …

Cavernous malformations of the central nervous system

ER Smith - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Cerebral Cavernous Malformations CCMs are found in approximately 0.5% of
the population and characteristically manifest with headache, seizure, or focal neurologic …

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

S Zhao, KY Mekbib, MA van der Ent, G Allington… - Nature …, 2023 - nature.com
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …

Shear stress and pathophysiological PI3K involvement in vascular malformations

S Abdelilah-Seyfried, R Ola - The Journal of Clinical Investigation, 2024 - jci.org
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 …

Mechanisms underlying sensing of cellular stress signals by mammalian MAP3 kinases

K Mordente, L Ryder, S Bekker-Jensen - Molecular Cell, 2024 - cell.com
Cellular homeostasis is continuously challenged by environmental cues and cellular stress
conditions. In their defense, cells need to mount appropriate stress responses that …

GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas

J Ren, Z Cui, C Jiang, L Wang, Y Guan, Y Ren… - The American Journal of …, 2024 - cell.com
Extra-axial cavernous hemangiomas (ECHs) are complex vascular lesions mainly found in
the spine and cavernous sinus. Their removal poses significant risk due to their vascularity …

Developmental venous anomalies are a genetic primer for cerebral cavernous malformations

DA Snellings, R Girard, R Lightle, A Srinath… - Nature cardiovascular …, 2022 - nature.com
Cerebral cavernous malformations (CCMs) are a neurovascular anomaly that may occur
sporadically or be inherited due to autosomal dominant mutations in KRIT1, CCM2 or …

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 …

mTORC1 inhibitor rapamycin inhibits growth of cerebral cavernous malformation in adult mice

L Li, AA Ren, S Gao, YS Su, J Yang, J Bockman… - Stroke, 2023 - ahajournals.org
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular malformations that
frequently cause stroke. CCMs arise due to loss of function in one of the genes that encode …

TMBserval: a statistical explainable learning model reveals weighted tumor mutation burden better categorizing therapeutic benefits

Y Wang, J Wang, W Fang, X **ao, Q Wang… - Frontiers in …, 2023 - frontiersin.org
A high tumor mutation burden (TMB) is known to drive the response to immune checkpoint
inhibitors (ICI) and is associated with favorable prognoses. However, because it is a one …