Cerebral cavernous malformation: from mechanism to therapy

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

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 …

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 …

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 …

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

Y Wang, J Wang, W Fang, X Xiao, 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 …

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 …

Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing

MA Wedemeyer, T Ding, EAR Garfinkle, JJ Westfall… - Scientific Reports, 2024 - nature.com
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic
variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR …

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)

G Reynolds, S Cardaropoli, D Carli, M Luca… - European Journal of …, 2023 - nature.com
PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes,
collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These gain-of …

Familial CCM genes might not be main drivers for Pathogenesis of sporadic CCMs-Genetic similarity between cancers and vascular malformations

J Zhang, J Croft, A Le - Journal of Personalized Medicine, 2023 - mdpi.com
Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries
that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several …