Introduction to cerebral cavernous malformation: a brief review
The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities resu...
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Korean Society for Biochemistry and Molecular Biology
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070704/ |
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pubmed-50707042016-10-20 Introduction to cerebral cavernous malformation: a brief review Kim, Jaehong Invited Mini Review The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified ‘loss of function’ mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research. [BMB Reports 2016; 49(5): 255-262] Korean Society for Biochemistry and Molecular Biology 2016-05-31 /pmc/articles/PMC5070704/ /pubmed/26923303 http://dx.doi.org/10.5483/BMBRep.2016.49.5.036 Text en Copyright © 2016, Korean Society for Biochemistry and Molecular Biology http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Kim, Jaehong |
| spellingShingle |
Kim, Jaehong Introduction to cerebral cavernous malformation: a brief review |
| author_facet |
Kim, Jaehong |
| author_sort |
Kim, Jaehong |
| title |
Introduction to cerebral cavernous malformation: a brief review |
| title_short |
Introduction to cerebral cavernous malformation: a brief review |
| title_full |
Introduction to cerebral cavernous malformation: a brief review |
| title_fullStr |
Introduction to cerebral cavernous malformation: a brief review |
| title_full_unstemmed |
Introduction to cerebral cavernous malformation: a brief review |
| title_sort |
introduction to cerebral cavernous malformation: a brief review |
| description |
The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified ‘loss of function’ mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research. [BMB Reports 2016; 49(5): 255-262] |
| publisher |
Korean Society for Biochemistry and Molecular Biology |
| publishDate |
2016 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070704/ |
| _version_ |
1613689892457414656 |