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Cerebral cavernous malformation: from mechanism to therapy
Cerebral cavernous malformations are acquired vascular anomalies that constitute a
common cause of central nervous system hemorrhage and stroke. The past 2 decades have …
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 …
the population and characteristically manifest with headache, seizure, or focal neurologic …
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …
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 …
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 …
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 …
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
Cerebral cavernous malformations (CCMs) are a neurovascular anomaly that may occur
sporadically or be inherited due to autosomal dominant mutations in KRIT1, CCM2 or …
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 …
(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
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 …
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
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 …
inhibitors (ICI) and is associated with favorable prognoses. However, because it is a one …