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- W4318948872 abstract "Abstract Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery and the formation of an abnormal compensatory capillary network at the base of the brain. Genomics studies identified Ring finger protein 213 (RNF213) as a common genetic factor that increases the susceptibility to MMD in East Asian people. However, the function of RNF213 and its roles in pathogenesis of MMD is unclear. Here, we showed that genetic knockout of Rnf213 in mice causes significant pericytes reduction and blood-brain barrier impairment in the cortex. These phenotypes are accompanied with microglia activation and elevated level of proinflammatory cytokines. Additionally, Rnf213 deficient mice showed reduced expression of tight junction proteins, including Occludin, Claudin-5 and ZO-1. Together, these data suggested that RNF213 might contribute to the pathogenesis of MMD through disruption of pericyte homeostasis and blood-brain barrier integrity by dysregulation of inflammatory responses and tight junction formation." @default.
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- W4318948872 date "2023-02-02" @default.
- W4318948872 modified "2023-10-14" @default.
- W4318948872 title "Rnf-213 knockout induces pericyte reduction and blood-brain barrier impairment in mouse" @default.
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- W4318948872 doi "https://doi.org/10.21203/rs.3.rs-2526175/v1" @default.
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