The DOI matches its Crossref record; 73 of the 73 references it cites were found in a registry or an index.
Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis
Open accessAbstract
Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically or as a consequence of inherited loss-of-function mutations, predominantly in the genes CCM1 (KRIT1), CCM2 (MGC4607, OSM, Malcavernin), or CCM3 (PDCD10, TFAR15). Inherited, familial CCM is characterized by the development of multiple lesions throughout a patient's life leading to recurrent cerebral hemorrhages. Recently, roles for the CCM proteins in maintaining vascular barrier functions and quiescence have been elucidated, and in this review we summarize the genetics and pathophysiology of this disease and discuss the molecular mechanisms through which CCM proteins may act within blood vessels.
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“CCMs in humans are typically located in the cortical white matter, and due to fragile vessels lead to intracerebral hemorrhages, focal neurological deficits, gait ataxia, seizures, and ischemic strokes (178).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [178]
In the citing paper
“Mutations in endothelial KRIT1, CCM2, and PDCD10 genes encoding cerebral cavernous malformation (CCM) proteins 1, 2, and 3 lead to formation of enlarged and irregular small vessels in the brain including thin-walled capillaries and leaky vascular lesions of venous origin (178).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [178]
Citations
Cites
Cerebral Cavernous Malformations
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Genetics of cavernous angiomas
Labauge, P. M., Denier, C., Bergametti, F., & Tournier‐Lasserve, E. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70053-4 · Cited by 384
Self-citationRac–MEKK3–MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock
Uhlik, M. T., Abell, A. N., Johnson, N. L., Sun, W., Cuevas, B. D., Lobel-Rice, K. E., Horne, E. A., Dell’Acqua, M. L., & Johnson, G. L. (2003) · Nature Cell Biology · doi:10.1038/ncb1071 · Cited by 378
The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases
Whitehead, K. J., Chan, A. C., Navankasattusas, S., Koh, W., London, N. R., Jing, L., Mayo, A. H., Drakos, S. G., Jones, C. A., Zhu, W., et al. (2009) · Nature Medicine · doi:10.1038/nm.1911 · Cited by 377
Intracranial Cavernous Malformations
Maraire, J. N., & Awad, I. A. (1995) · Neurosurgery · doi:10.1227/00006123-199510000-00001 · Cited by 360
Goudreault, M., D'Ambrosio, L. M., Kean, M. J., Mullin, M. J., Larsen, B. G., Sanchez, A., Chaudhry, S., Chen, G. I., Sicheri, F., Nesvizhskii, A. I., et al. (2009) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m800266-mcp200 · Cited by 359
Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity
Stockton, R. A., Shenkar, R., Awad, I. A., & Ginsberg, M. H. (2010) · The Journal of Experimental Medicine · doi:10.1084/jem.20091258 · Cited by 353
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Cavernous malformations: natural history, diagnosis and treatment
Batra, S., Lin, D. D. M., Recinos, P. F., Zhang, J., & Rigamonti, D. (2009) · Nature Reviews Neurology · doi:10.1038/nrneurol.2009.177 · Cited by 324
KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions
Glading, A., Han, J., Stockton, R. A., & Ginsberg, M. H. (2007) · The Journal of Cell Biology · doi:10.1083/jcb.200705175 · Cited by 317
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Meschia, J. F., Bushnell, C., Boden-Albala, B., Braun, L. T., Bravata, D. M., Chaturvedi, S., Creager, M. A., Eckel, R. H., Elkind, M. S. V., Fornage, M., et al. (2014) · Stroke · doi:10.1161/str.0000000000000046 · Cited by 2,650
Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,312
Establishment and Dysfunction of the Blood-Brain Barrier
Zhao, Z., Nelson, A. R., Betsholtz, C., & Zlokovic, B. V. (2015) · Cell · doi:10.1016/j.cell.2015.10.067 · Cited by 1,670
Wassef, M., Blei, F., Adams, D. M., Alomari, A. I., Baselga, E., Berenstein, A., Burrows, P. E., Frieden, I. J., Garzón, M. C., López‐Gutiérrez, J. C., et al. (2015) · PEDIATRICS · doi:10.1542/peds.2014-3673 · Cited by 1,411
Vascular heterogeneity and specialization in development and disease
Potente, M., & Mäkinen, T. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.36 · Cited by 653
Metadata
- Authors
- Fischer, A., Zalvide, J., Faurobert, E., Albiges-Rizo, C., & Tournier-Lasserve, E.
- Affiliations
- German Cancer Research Center (DE)
- Universidade de Santiago de Compostela (ES)
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Fischer, Andreas
- Venue
- Trends in Molecular Medicine
- Publisher
- Elsevier BV
- Published
- 2013-05
- Volume
- 19
- Issue
- 5
- Pages
- 302-308
- ISSN
- 1471-4914 (ISSN-L)
- OpenAlex
- W1967147410
- Cited by
- 199
- References
- 73
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 15 · 2023: 11 · 2022: 14 · 2021: 15 · 2020: 23 · 2019: 14 · 2018: 14 · 2017: 16 · 2016: 14 · 2015: 23 · 2014: 17 · 2013: 4
- FWCI
- 2.52
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- Trends in Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- RUNA. Repositorio Institucional del Sergas (Servicio Gallego de Salud (SERGAS)) (submittedVersion, other-oa)
- Funders
- European Commission
- Topics
- Health Sciences › Medicine › Clinical Neurology › Vascular Malformations Diagnosis and Treatment
- Health Sciences › Medicine › Genetics (clinical) › Vascular Anomalies and Treatments
- Health Sciences › Medicine › Clinical Neurology › Intracerebral and Subarachnoid Hemorrhage Research
- Keywords
- cerebral cavernous malformations, loss-of-function mutations, vascular barrier function, pathophysiology
- MeSH terms
- KRIT1 Protein, Animals, Carrier Proteins, Central Nervous System, Homeostasis, Humans, Membrane Proteins, Microtubule-Associated Proteins, Neovascularization, Pathologic, Proto-Oncogene Proteins, Hemangioma, Cavernous, Central Nervous System, Endothelial Cells, Apoptosis Regulatory Proteins
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