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 …
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 …
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 …
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 …
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 …
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 …
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR …
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 …
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 …