Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Alt...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2016-11-01
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| Series: | Frontiers in Surgery |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fsurg.2016.00060/full |
| _version_ | 1819211288181473280 |
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| author | Jacob F. Baranoski M. Yashar S. Kalani Joseph M. Zabramski |
| author_facet | Jacob F. Baranoski M. Yashar S. Kalani Joseph M. Zabramski |
| author_sort | Jacob F. Baranoski |
| collection | DOAJ |
| description | Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis. Since our last review of the molecular genetics of CCM pathogenesis in 2012, breakthroughs include a more thorough understanding of the protein structures of the gene products, involvement with integrin proteins and MEKK3 signaling pathways, the importance of CCM2-PDCD10 interactions, and others. In this review, we highlight the advances that further our understanding of the gene to protein to disease relationships of CCMs. |
| first_indexed | 2024-12-23T06:24:41Z |
| format | Article |
| id | doaj.art-7d77155c37ba419ca959e5b9e21e5928 |
| institution | Directory Open Access Journal |
| issn | 2296-875X |
| language | English |
| last_indexed | 2024-12-23T06:24:41Z |
| publishDate | 2016-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Surgery |
| spelling | doaj.art-7d77155c37ba419ca959e5b9e21e59282022-12-21T17:57:06ZengFrontiers Media S.A.Frontiers in Surgery2296-875X2016-11-01310.3389/fsurg.2016.00060215406Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesisJacob F. Baranoski0M. Yashar S. Kalani1Joseph M. Zabramski2Barrow Neurological InstituteBarrow Neurological InstituteBarrow Neurological InstituteMutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis. Since our last review of the molecular genetics of CCM pathogenesis in 2012, breakthroughs include a more thorough understanding of the protein structures of the gene products, involvement with integrin proteins and MEKK3 signaling pathways, the importance of CCM2-PDCD10 interactions, and others. In this review, we highlight the advances that further our understanding of the gene to protein to disease relationships of CCMs.http://journal.frontiersin.org/Journal/10.3389/fsurg.2016.00060/fullgenemolecular geneticsCCMKrit1CCM1CCM2 |
| spellingShingle | Jacob F. Baranoski M. Yashar S. Kalani Joseph M. Zabramski Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis Frontiers in Surgery gene molecular genetics CCM Krit1 CCM1 CCM2 |
| title | Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis |
| title_full | Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis |
| title_fullStr | Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis |
| title_full_unstemmed | Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis |
| title_short | Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis |
| title_sort | cerebral cavernous malformations review of the genetic and protein protein interactions resulting in disease pathogenesis |
| topic | gene molecular genetics CCM Krit1 CCM1 CCM2 |
| url | http://journal.frontiersin.org/Journal/10.3389/fsurg.2016.00060/full |
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