2024年7月20日 · Cerebral cavernous malformations (CCMs) are groups of tightly packed, irregular small blood vessels with thin walls. They may be present in the brain or spinal cord. The vessels contain slow-moving blood that's usually clotted. CCMs look like small mulberries. In some people, CCMs can cause blood to leak in the brain or spinal cord.

2024年7月3日 · Conclusions: CCM3 is critical for maintaining blood-brain barrier integrity and CCM3 loss-induced mTORC1 signaling in brain EPCs initiates and facilitates CCM pathogenesis. Keywords: TOR serine-threonine kinases; blood–brain barrier; caveolae; endocytosis; hemangioma, cavernous, central nervous system; mechanistic target of rapamycin complex ...

2021年1月25日 · Cerebral cavernous malformations (CCMs) are vascular abnormalities that primarily occur in adulthood and cause cerebral hemorrhage, stroke, and seizures. CCMs are thought to be...

2018年9月11日 · Cerebral cavernous malformations (CCMs) are neurovascular lesions caused by mutations in one of three genes (CCM1–3). Loss of CCM3 causes the poorest prognosis, and little is known about how it regulates vascular integrity.

CCM3 maintains cell junction by inhibiting ERK1/2 phosphorylation; CCM3 inhibits stress fibre migration and endothelial permeability by inhibiting RhoA signalling; CCM3 regulates angiogenesis with or without binding to GCKIII kinases. CCM3 also mediates EndMT transition, autophagy and ROS stimulation.

CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and familial patients.

2020年12月30日 · The programmed cell death 10 (PDCD10) gene was originally identified as an apoptosis-related gene, although it is now usually known as CCM3, as the third causative gene of cerebral cavernous malformation (CCM). CCM is a neurovascular disease that is characterized by vascular malformations and is associated with headaches, seizures, focal ...

2019年3月2日 · The current review focuses on the signalling pathways mediated by CCM3 in regulating endothelial cell junction, proliferation, migration and permeability. These findings may offer potential therapeutic strategies for the treatment of CCMs.

脑静脉畸形3，也称为脑静脉畸形3，与脑静脉畸形2和海绵状血管瘤有关。 与脑静脉畸形3有关的重要基因是PDCD10（程序性细胞死亡10）。 附属组织包括大脑和骨髓，相关表型为头痛和瘫痪. 该模块正在开发中，请耐心等待我们的数据更新。 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Structural basis of the Norrin-Frizzled 4 interaction.

CCM3 is an extremely rare and serious mutation that causes cavernous malformations in the brain and spinal cord. A mutation of the CCM3 gene can result in a multi-systemic syndrome because the gene is active in additional molecular signaling pathways that are not shared by the CCM1 and CCM2 genes.