期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 21, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/ijms21020675
关键词
cerebral cavernous malformation; endothelial barrier; epithelial barrier; Rho; ROCK; MEKK3
资金
- United States Department of Defense Congress Directed Medical Research Program Discovery Award [W81XWH-18-1-0501]
- National Institutes of Health [K01 DK092381, P30 DK042086, P01 NS092521, UL1 TR001863]
- University of Chicago Safadi Clinical and Translational Neuroscience Awards
- American Association of Neurological Surgeons/Congress of Neurological Surgeons Joint Cerebrovascular Section Robert J. Dempsey MD Cerebrovascular Research Grant
Cerebral cavernous malformation (CCM) is a disease characterized by mulberry shaped clusters of dilated microvessels, primarily in the central nervous system. Such lesions can cause seizures, headaches, and stroke from brain bleeding. Loss-of-function germline and somatic mutations of a group of genes, called CCM genes, have been attributed to disease pathogenesis. In this review, we discuss the impact of CCM gene encoded proteins on cellular signaling, barrier function of endothelium and epithelium, and their contribution to CCM and potentially other diseases.
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