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.
“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]
Mutations in endothelial KRIT1, CCM2, and PDCD10 genes encoding cerebral cavernous malformation 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.
“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]
Cites
Cerebral Cavernous Malformations
Rigamonti, D., Hadley, M. N., Drayer, B. P., Johnson, P. C., Rigamonti, K., Knight, J. T., & Spetzler, R. F. (1988) · New England Journal of Medicine · doi:10.1056/nejm198808113190605 · Cited by 666 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Intracranial Cavernous Malformations
Maraire, J. N., & Awad, I. A. (1995) · Neurosurgery · doi:10.1227/00006123-199510000-00001 · Cited by 360 · see citing works
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 · see citing works
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 · see citing works
Clatterbuck, R. E. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.71.2.188 · Cited by 327 · see citing works
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 · see citing works
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 · see citing works
The natural history of intracranial cavernous malformations
Gross, B. A., Lin, N., Du, R., & Day, A. L. (2011) · Neurosurgical FOCUS · doi:10.3171/2011.3.focus1165 · Cited by 306 · see citing works
Akers, A. L., Johnson, E. W., Steinberg, G. K., Zabramski, J. M., & Marchuk, D. A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn430 · Cited by 290 · see citing works
Surgical management of brain-stem cavernous malformations: report of 137 cases
Wang, C., Liu, A., Zhang, J., Sun, B., & Zhao, Y. (2003) · Surgical Neurology · doi:10.1016/s0090-3019(03)00187-3 · Cited by 284 · see citing works
Cell adhesion dynamics at endothelial junctions: VE-cadherin as a major player
Vestweber, D., Winderlich, M., Cagna, G., & Nottebaum, A. F. (2008) · Trends in Cell Biology · doi:10.1016/j.tcb.2008.10.001 · Cited by 283 · see citing works
Genotype–phenotype correlations in cerebral cavernous malformations patients
Denier, C., Labauge, P. M., Bergametti, F., Marchelli, F., Riant, F., Arnoult, M., Maciazek, J., Vicaut, É., Brunereau, L., & Tournier‐Lasserve, E. (2006) · Annals of Neurology · doi:10.1002/ana.20947 · Cited by 267 · see citing works
Self-citationZawistowski, J. S., Stalheim, L., Uhlik, M. T., Abell, A. N., Ancrile, B. B., Johnson, G. L., & Marchuk, D. A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi256 · Cited by 254 · see citing works
Kleaveland, B., Zheng, X., Liu, J., Blum, Y., Tung, J. J., Zou, Z., Sweeney, S. M., Chen, M., Guo, L., Lu, M., et al. (2009) · Nature Medicine · doi:10.1038/nm.1918 · Cited by 248 · see citing works
“Cryptic” Vascular Malformations of the Central Nervous System
McCormick, W. F., & Nofzinger, J. D. (1966) · Journal of neurosurgery · doi:10.3171/jns.1966.24.5.0865 · Cited by 240 · see citing works
Cavernous Malformations and Capillary Telangiectasia: A Spectrum within a Single Pathological Entity
Rigamonti, D., Johnson, P. C., Spetzler, R. F., Hadley, M. N., & Drayer, B. P. (1991) · Neurosurgery · doi:10.1227/00006123-199101000-00010 · Cited by 235 · see citing works
McCarty, J. H., Lacy‐Hulbert, A., Charest, A., Bronson, R. T., Crowley, D. G., Housman, D. E., Savill, J., Roes, J., & Hynes, R. O. (2004) · Development · doi:10.1242/dev.01551 · Cited by 234 · see citing works
Cerebral developmental venous anomalies: Current concepts
Ruïz, D. S. M., Yilmaz, H., & Gailloud, P. (2009) · Annals of Neurology · doi:10.1002/ana.21754 · Cited by 227 · see citing works
Pagenstecher, A., Stahl, S., Sure, U., & Felbor, U. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn420 · Cited by 209 · see citing works
Whitehead, K. J., Plummer, N. W., Adams, J. A., Marchuk, D. A., & Li, D. Y. (2004) · Development · doi:10.1242/dev.01036 · Cited by 202 · see citing works
Wüstehube‐Lausch, J., Bartol, A., Liebler, S. S., Brütsch, R., Zhu, Y., Felbor, U., Sure, U., Augustin, H. G., & Fischer, A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1000132107 · Cited by 200 · see citing works
Self-citationAngiographically Occult Vascular Malformations
Tomlinson, F. H., Houser, O. W., Scheithauer, B. W., Sundt, T. M., Okazaki, H., & Parisi, J. E. (1994) · Neurosurgery · doi:10.1097/00006123-199405000-00002 · Cited by 187 · see citing works
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM
Riant, F., Bergametti, F., Ayrignac, X., Boulday, G., & Tournier‐Lasserve, E. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2009.07535.x · Cited by 184 · see citing works
Self-citationCCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations
Voß, K., Stahl, S., Schleider, E., Ullrich, S., Nickel, J., Mueller, T. D., & Felbor, U. (2007) · Neurogenetics · doi:10.1007/s10048-007-0098-9 · Cited by 176 · see citing works
CCM1 regulates vascular-lumen organization by inducing endothelial polarity
Lampugnani, M. G., Orsenigo, F., Rudini, N., Maddaluno, L., Boulday, G., Chapon, F., & Dejana, E. (2010) · Journal of Cell Science · doi:10.1242/jcs.059329 · Cited by 175 · see citing works
He, Y., Zhang, H., Yu, L., Günel, M., Boggon, T. J., Chen, H., & Wang, M. (2010) · Science Signaling · doi:10.1126/scisignal.2000722 · Cited by 172 · see citing works
Zheng, X., Xu, C. B., Lorenzo, A. D., Kleaveland, B., Zou, Z., Seiler, C., Chen, M., Cheng, L., Xiao, J., He, J., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci39679 · Cited by 160 · see citing works
Gault, J., Shenkar, R., Recksiek, P., & Awad, I. A. (2005) · Stroke · doi:10.1161/01.str.0000157586.20479.fd · Cited by 157 · see citing works
Mst4 and Ezrin Induce Brush Borders Downstream of the Lkb1/Strad/Mo25 Polarization Complex
ten Klooster, J. P., Jansen, M., Yuan, J., Oorschot, V. M. J., Begthel, H., Giacomo, V. D., Colland, F., de Koning, J., Maurice, M. M., Hornbeck, P. V., et al. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.01.016 · Cited by 155 · see citing works
Ma, X., Zhao, H., Shan, J., Long, F., Chen, Y., Chen, Y., Zhang, Y., Xiao, H., & Ma, D. (2007) · Molecular Biology of the Cell · doi:10.1091/mbc.e06-07-0608 · Cited by 154 · see citing works
Fasudil Decreases Lesion Burden in a Murine Model of Cerebral Cavernous Malformation Disease
McDonald, D. A., Shi, C., Shenkar, R., Stockton, R. A., Liu, F., Ginsberg, M. H., Marchuk, D. A., & Awad, I. A. (2011) · Stroke · doi:10.1161/strokeaha.111.625467 · Cited by 151 · see citing works
Proteomic Identification of the Cerebral Cavernous Malformation Signaling Complex
Hilder, T. L., Malone, M. H., Bencharit, S., Colicelli, J., Haystead, T., Johnson, G. L., & Wu, C. C. (2007) · Journal of Proteome Research · doi:10.1021/pr0704276 · Cited by 147 · see citing works
Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice
Chan, A. C., Drakos, S. G., Ruiz, O. E., Smith, A. C. H., Gibson, C. C., Jing, L., Passi, S. F., Stratman, A. N., Sacharidou, A., Revelo, M. P., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44393 · Cited by 145 · see citing works
Rho Kinase Inhibition Rescues the Endothelial Cell Cerebral Cavernous Malformation Phenotype
Borikova, A. L., Dibble, C. F., Sciaky, N., Welch, C. M., Abell, A. N., Bencharit, S., & Johnson, G. L. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.c109.097220 · Cited by 143 · see citing works
Structure-Function Analysis of Core STRIPAK Proteins
Kean, M. J., Ceccarelli, D. F. J., Goudreault, M., Sanches, M., Tate, S. A., Larsen, B. G., Gibson, L. C. D., Derry, W. B., Scott, I. C., Pelletier, L., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.214486 · Cited by 142 · see citing works
Petersen, T., Morrison, L. A., Schrader, R. M., & Hart, B. L. (2009) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1822 · Cited by 139 · see citing works
Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice
Boulday, G., Rudini, N., Maddaluno, L., Blécon, A., Arnould, M., Gaudric, A., Chapon, F., Adams, R. H., Dejana, E., & Tournier‐Lasserve, E. (2011) · The Journal of Experimental Medicine · doi:10.1084/jem.20110571 · Cited by 138 · see citing works
Self-citationRadiation-induced cavernomas of the brain.
Jain, R., Robertson, P. L., Gandhi, D., Gujar, S. K., Muraszko, K. M., & Gebarski, S. S. (2005) · PubMed Central · Cited by 135 · see citing works
McDonald, D. A., Shenkar, R., Shi, C., Stockton, R. A., Akers, A. L., Kucherlapati, M. H., Kucherlapati, R., Brainer, J., Ginsberg, M. H., Awad, I. A., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq433 · Cited by 132 · see citing works
CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation
Fidalgo, M., Fraile, M., Pires, A. R. V., Force, T. L., Pombo, C. M., & Zalvide, J. B. (2010) · Journal of Cell Science · doi:10.1242/jcs.061341 · Cited by 128 · see citing works
Self-citationPlummer, N. W., Gallione, C. J., Srinivasan, S., Zawistowski, J. S., Louis, D. N., & Marchuk, D. A. (2004) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63409-8 · Cited by 122 · see citing works
Osteoblast mineralization requires β1 integrin/ICAP-1–dependent fibronectin deposition
Brunner, M., Millon‐Frémillon, A., Chevalier, G., Nakchbandi, I. A., Mosher, D. F., Block, M. R., Albigès‐Rizo, C., & Bouvard, D. (2011) · The Journal of Cell Biology · doi:10.1083/jcb.201007108 · Cited by 118 · see citing works
Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling
Glading, A., & Ginsberg, M. H. (2009) · Disease Models & Mechanisms · doi:10.1242/dmm.003293 · Cited by 117 · see citing works
Hogan, B. M., Bussmann, J., Wolburg, H., & Schulte‐Merker, S. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn142 · Cited by 116 · see citing works
Boulday, G., Blécon, A., Petit, N., Chareyre, F., Garcı́a, L., Niwa‐Kawakita, M., Giovannini, M., & Tournier‐Lasserve, E. (2009) · Disease Models & Mechanisms · doi:10.1242/dmm.001263 · Cited by 112 · see citing works
Self-citationStahl, S., Gaetzner, S., Voß, K., Brackertz, B., Schleider, E., Sürücü, O., Kunze, E., Netzer, C., Korenke, G. C., Finckh, U., et al. (2008) · Human Mutation · doi:10.1002/humu.20712 · Cited by 110 · see citing works
Loss of cerebral cavernous malformation 3 ( Ccm3 ) in neuroglia leads to CCM and vascular pathology
Louvi, A., Chen, L., Two, A. M., Zhang, H., Wang, M., & Günel, M. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1012617108 · Cited by 106 · see citing works
Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction
Faurobert, E., & Albigès‐Rizo, C. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2009.07537.x · Cited by 101 · see citing works
Self-citationMillon‐Frémillon, A., Bouvard, D., Grichine, A., Manet, S., Block, M. R., & Albigès‐Rizo, C. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200707142 · Cited by 100 · see citing works
Osteoblast mineralization requires β1 integrin/ICAP-1–dependent fibronectin deposition
Brunner, M., Millon‐Frémillon, A., Chevalier, G., Nakchbandi, I. A., Mosher, D. F., Block, M. R., Albigès‐Rizo, C., & Bouvard, D. (2013) · The Journal of Cell Biology · doi:10.1083/jcb.20100710804302013c · Cited by 100 · see citing works
Dillon, W. P. (1997) · PubMed Central · Cited by 100 · see citing works
You, C., Sandalcioglu, I. E., Dammann, P. R., Felbor, U., Sure, U., & Zhu, Y. (2013) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.12022 · Cited by 96 · see citing works
Crose, L. E. S., Hilder, T. L., Sciaky, N., & Johnson, G. L. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.c900009200 · Cited by 96 · see citing works
Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease
Yoruk, B., Gillers, B. S., Chi, N. C., & Scott, I. C. (2011) · Developmental Biology · doi:10.1016/j.ydbio.2011.12.006 · Cited by 95 · see citing works
Kufs, H. (1928) · Zeitschrift für die gesamte Neurologie und Psychiatrie · doi:10.1007/bf02884519 · Cited by 94 · see citing works
Mechanism for KRIT1 Release of ICAP1-Mediated Suppression of Integrin Activation
Liu, W., Draheim, K., Zhang, R., Calderwood, D., & Boggon, T. J. (2013) · Molecular Cell · doi:10.1016/j.molcel.2012.12.005 · Cited by 86 · see citing works
Yadla, S., Jabbour, P. M., Shenkar, R., Shi, C., Campbell, P. G., & Awad, I. A. (2010) · Neurosurgical FOCUS · doi:10.3171/2010.5.focus10121 · Cited by 85 · see citing works
Crystal Structure of CCM3, a Cerebral Cavernous Malformation Protein Critical for Vascular Integrity
Li, X., Zhang, R., Zhang, H., He, Y., Ji, W., Wang, M., & Boggon, T. J. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.128470 · Cited by 84 · see citing works
Béraud-Dufour, S., Gautier, R., Albigès‐Rizo, C., Chardin, P., & Faurobert, E. (2007) · FEBS Journal · doi:10.1111/j.1742-4658.2007.06068.x · Cited by 80 · see citing works
Self-citationCEREBRAL CAVERNOUS MALFORMATIONS
Gault, J., Awad, I. A., Recksiek, P., Shenkar, R., Breeze, R. E., Handler, M., & Kleinschmidt-DeMasters, B. K. (2009) · Neurosurgery · doi:10.1227/01.neu.0000348049.81121.c1 · Cited by 77 · see citing works
Fidalgo, M., Guerrero, A. T. G., Fraile, M., Iglesias, C., Pombo, C. M., & Zalvide, J. B. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.320259 · Cited by 73 · see citing works
Self-citationPetit, N., Blécon, A., Denier, C., & Tournier‐Lasserve, E. (2006) · Gene Expression Patterns · doi:10.1016/j.modgep.2005.11.001 · Cited by 70 · see citing works
Self-citationCombinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke
Gore, A. V., Lampugnani, M. G., Dye, L., Dejana, E., & Weinstein, B. M. (2008) · Disease Models & Mechanisms · doi:10.1242/dmm.000513 · Cited by 69 · see citing works
Integrin Cytoplasmic Domain–Associated Protein-1 Attenuates Sprouting Angiogenesis
Brütsch, R., Liebler, S. S., Wüstehube‐Lausch, J., Bartol, A., Herberich, S. E., Adam, M., Telzerow, A., Augustin, H. G., & Fischer, A. (2010) · Circulation Research · doi:10.1161/circresaha.110.217257 · Cited by 68 · see citing works
Self-citationDenier, C., Gasc, J., Chapon, F., Domenga, V., Lescoat, C., Joutel, A., & Tournier‐Lasserve, E. (2002) · Mechanisms of Development · doi:10.1016/s0925-4773(02)00209-5 · Cited by 53 · see citing works
Self-citationZheng, X., Xu, C. B., Smith, A. O., Stratman, A. N., Zou, Z., Kleaveland, B., Yuan, L., Didiku, C., Sen, A., Liu, X., et al. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.06.004 · Cited by 51 · see citing works
Cunningham, K., Uchida, Y., O'Donnell, E., Claudio, E., Li, W., Soneji, K., Wang, H., Mukouyama, Y., & Siebenlist, U. K. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr225 · Cited by 39 · see citing works
Schleider, E., Stahl, S., Wüstehube‐Lausch, J., Walter, U., Fischer, A., & Felbor, U. (2010) · Neurogenetics · doi:10.1007/s10048-010-0261-6 · Cited by 37 · see citing works
Self-citationCCM1 gene deletion identified by MLPA in cerebral cavernous malformation
Gaetzner, S., Stahl, S., Sürücü, O., Schaafhausen, A., Halliger-Keller, B., Bertalanffy, H., Sure, U., & Felbor, U. (2006) · Neurosurgical Review · doi:10.1007/s10143-006-0057-1 · Cited by 31 · see citing works
Familiäre Kavernome des Zentralnervensystems
Siegel, A. M., Bertalanffy, H., DICHGANS, J., Elger, C. E., Hopf, H. C., Hopf, N., Keidel, M., Kleider, A., Nowak, G., Pfeiffer, R. A., et al. (2004) · Der Nervenarzt · doi:10.1007/s00115-004-1779-3 · Cited by 14 · see citing works
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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 · see citing works
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Akers, A. L., Salman, R. A., Awad, I. A., Dahlem, K., Flemming, K. D., Hart, B. L., Kim, H., Jusué-Torres, I., Kondziolka, D. S., Lee, C., et al. (2017) · Neurosurgery · doi:10.1093/neuros/nyx091 · Cited by 498 · see citing works
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Thomas, R. H., & Berkovic, S. F. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.62 · Cited by 297 · see citing works
Vascular disruption and blood–brain barrier dysfunction in intracerebral hemorrhage
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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
Ren, A. A., Snellings, D. A., Su, Y. S., Hong, C. C., Castro, M., Tang, A. T., Detter, M. R., Hobson, N., Girard, R., Romanos, S. G., et al. (2021) · Nature · doi:10.1038/s41586-021-03562-8 · Cited by 199 · see citing works
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de Vinuesa, A. G., Abdelilah‐Seyfried, S., Knaus, P. I., Zwijsen, A., & Bailly, S. (2015) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2015.12.005 · Cited by 164 · see citing works
Bone Morphogenetic Proteins in Vascular Homeostasis and DiseasePreprint
Goumans, M., Zwijsen, A., ten Dijke, P., & Bailly, S. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a031989 · Cited by 157 · see citing works
Regulation of β1 Integrin-Klf2-Mediated Angiogenesis by CCM Proteins
Renz, M., Otten, C., Faurobert, E., Rudolph, F., Zhu, Y., Boulday, G., Duchêne, J., Mickoleit, M., Dietrich, A.-C., Ramspacher, C., et al. (2015) · Developmental Cell · doi:10.1016/j.devcel.2014.12.016 · Cited by 153 · see citing works
Self-citationRevisiting the blood-brain barrier: A hard nut to crack in the transportation of drug molecules
Harilal, S., Jose, J., Parambi, D. G. T., Kumar, R., Unnikrishnan, M. K., Uddin, M. S., Mathew, G. E., Pratap, R., Marathakam, A., & Mathew, B. (2020) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2020.03.018 · Cited by 124 · see citing works
Convergence of coronary artery disease genes onto endothelial cell programs
Schnitzler, G. R., Kang, H. Y., Fang, S., Angom, R. S., Lee-Kim, V. S., Ma, X. R., Zhou, R., Zeng, T., Guo, K., Taylor, M. S., et al. (2024) · Nature · doi:10.1038/s41586-024-07022-x · Cited by 111 · see citing works
Can we ‘seize’ the gut microbiota to treat epilepsy?
De Caro, C., Iannone, L. F., Citraro, R., Striano, P., De Sarro, G., Constanti, A., Cryan, J. F., & Russo, E. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.10.002 · Cited by 110 · see citing works
Retta, S. F., & Glading, A. (2016) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2016.09.011 · Cited by 103 · see citing works
Cerebral cavernous malformation proteins at a glance
Draheim, K., Fisher, O. S., Boggon, T. J., & Calderwood, D. (2014) · Journal of Cell Science · doi:10.1242/jcs.138388 · Cited by 99 · see citing works
Structure and vascular function of MEKK3–cerebral cavernous malformations 2 complex
Fisher, O. S., Deng, H., Liu, D., Zhang, Y., Rong, W., Deng, Y., Zhang, F., Louvi, A., Turk, B. E., Boggon, T. J., et al. (2015) · Nature Communications · doi:10.1038/ncomms8937 · Cited by 99 · see citing works
CCM-3/STRIPAK promotes seamless tube extension through endocytic recycling
Lant, B., Yu, B., Goudreault, M., Holmyard, D., Knight, J. D. R., Xu, P., Zhao, L., Chin, K., Wallace, E. P., Zhen, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms7449 · Cited by 89 · see citing works
Cerebral Cavernous Malformation: What a Practicing Clinician Should Know
Flemming, K. D., & Lanzino, G. S. (2020) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2019.11.005 · Cited by 88 · see citing works
The pathobiology of vascular malformations: insights from human and model organism genetics
Wetzel‐Strong, S. E., Detter, M. R., & Marchuk, D. A. (2016) · The Journal of Pathology · doi:10.1002/path.4844 · Cited by 83 · see citing works
Genetics of cerebral cavernous malformations: current status and future prospects.
Choquet, H., Pawlikowska, L., Lawton, M. T., & Kim, H. (2015) · PubMed · Cited by 79 · see citing works
KRIT1 loss of function causes a ROS-dependent upregulation of c-Jun
Goitre, L., Luca, E. D., Braggion, S., Trapani, E., Guglielmotto, M., Biasi, F., Forni, M., Moglia, A., Trabalzini, L., & Retta, S. F. (2013) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2013.11.020 · Cited by 77 · see citing works
Culleré, X., Plovie, E. R., Bennett, P. M., MacRae, C. A., & Mayadas, T. N. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1510495112 · Cited by 75 · see citing works
Schulz, G. B., Wieland, E., Wüstehube‐Lausch, J., Boulday, G., Moll, I., Tournier‐Lasserve, E., & Fischer, A. (2015) · Stroke · doi:10.1161/strokeaha.114.007512 · Cited by 75 · see citing works
Self-citationDiStefano, P. V., Kuebel, J. M., Sarelius, I. H., & Glading, A. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.582304 · Cited by 72 · see citing works
Ruiz, S., Zhao, H., Chandakkar, P., Chatterjee, P. K., Papoin, J., Blanc, L., Metz, C. N., Campagne, F., & Marambaud, P. (2016) · Scientific Reports · doi:10.1038/srep37366 · Cited by 70 · see citing works
Recent advances in cerebral cavernous malformation research
Padarti, A., & Zhang, J. (2018) · Vessel Plus · doi:10.20517/2574-1209.2018.34 · Cited by 64 · see citing works
Studying Human Neurodevelopment and Diseases Using 3D Brain Organoids
Tian, A., Muffat, J., & Li, Y. (2020) · Journal of Neuroscience · doi:10.1523/jneurosci.0519-19.2019 · Cited by 67 · see citing works
Astrocytes propel neurovascular dysfunction during cerebral cavernous malformation lesion formation
Lopez‐Ramirez, M. A., Lai, C. C., Soliman, S. I., Hale, P., Pham, A., Estrada, E. J., McCurdy, S., Girard, R., Verma, R., Moore, T., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci139570 · Cited by 66 · see citing works
Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease
Lai, C. C., Nelsen, B., Frías-Anaya, E., Gallego-Gutiérrez, H., Orecchioni, M., Herrera, V., Ortiz, E., Sun, H., Mesarwi, O. A., Ley, K. F., et al. (2022) · Circulation Research · doi:10.1161/circresaha.122.321129 · Cited by 65 · see citing works
Choi, J. P., Wang, R., Yang, X., Wang, X., Wang, L., Ting, K. K., Foley, M., Cogger, V. C., Yang, Z., Liu, F., et al. (2018) · Science Advances · doi:10.1126/sciadv.aau0731 · Cited by 60 · see citing works
Choquet, H., Trapani, E., Goitre, L., Trabalzini, L., Akers, A. L., Fontanella, M. M., Hart, B. L., Morrison, L. A., Pawlikowska, L., Kim, H., et al. (2016) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2016.01.008 · Cited by 59 · see citing works
Lisowska, J., Rödel, C. J., Manet, S., Miroshnikova, Y. A., Boyault, C., Planus, E., Mets, R. D. M. D., Lee, H., Destaing, O., Mertani, H. C., et al. (2018) · Journal of Cell Science · doi:10.1242/jcs.216093 · Cited by 59 · see citing works
Self-citationGoitre, L., DiStefano, P. V., Moglia, A., Nobiletti, N., Baldini, E., Trabalzini, L., Keubel, J., Trapani, E., Shuvaev, V. V., Muzykantov, V. R., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-08373-4 · Cited by 58 · see citing works
PDGF , Pericytes and the Pathogenesis of Idiopathic Basal Ganglia Calcification ( IBGC )
Betsholtz, C., & Keller, A. (2014) · Brain Pathology · doi:10.1111/bpa.12158 · Cited by 58 · see citing works
When endothelial cells go rogue
Chen, P., & Simons, M. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201505943 · Cited by 51 · see citing works
CCM proteins control endothelial β1 integrin dependent response to shear stress
Jílková, Z. M., Lisowska, J., Manet, S., Claude Verdier, A., Deplano, V., Geindreau, C., Faurobert, E., Albigès‐Rizo, C., & Alain Duperray, B. (2014) · Biology Open · doi:10.1242/bio.201410132 · Cited by 50 · see citing works
Self-citationBasic and Translational Research in Intracerebral Hemorrhage
Selim, M. H., Hanley, D. F., Broderick, J. P., Goldstein, J. N., GREGSON, B. A., Falcione, G., Gonzales, N. R., Gurol, M. E., Kersten, J., Lewkowicz, H., et al. (2018) · Stroke · doi:10.1161/strokeaha.117.019539 · Cited by 48 · see citing works
Duan, T., Li, L., Yu, Y., Li, T., Han, R., Sun, X., Cui, Y., Liu, T., Wang, X., Wang, Y., et al. (2022) · Pharmacological Research · doi:10.1016/j.phrs.2022.106200 · Cited by 46 · see citing works
Otten, C., Knox, J. J., Boulday, G., Eymery, M., Haniszewski, M., Neuenschwander, M., Radetzki, S., Vogt, I., Hahn, K. T., Luca, C. D., et al. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201809155 · Cited by 43 · see citing works
Self-citationFrom remodeling to quiescence: The transformation of the vascular network
Ouarné, M., Pena, A., & Franco, C. A. (2021) · Cells and Development · doi:10.1016/j.cdev.2021.203735 · Cited by 42 · see citing works
Kar, S., Samii, A., & Bertalanffy, H. (2014) · Neurosurgical Review · doi:10.1007/s10143-014-0597-8 · Cited by 42 · see citing works
McKerracher, L. J., Shenkar, R., Abbinanti, M., Cao, Y. J., Peiper, A. M., Liao, J. K., Lightle, R., Moore, T., Hobson, N., Gallione, C. J., et al. (2019) · Translational Stroke Research · doi:10.1007/s12975-019-00725-8 · Cited by 41 · see citing works
Fisher, O. S., Liu, W., Zhang, R., Stiegler, A. L., Ghedia, S., Weber, J. L., & Boggon, T. J. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.616433 · Cited by 40 · see citing works
Pal, S., Lant, B., Yu, B., Tian, R., Tong, J., Krieger, J. R., Moran, M. F., Gingras, A., & Derry, W. B. (2017) · Current Biology · doi:10.1016/j.cub.2017.02.028 · Cited by 40 · see citing works
EphB4 forward signalling mediates angiogenesis caused by CCM 3/ PDCD 10‐ablation
You, C., Zhao, K., Dammann, P. R., Keyvani, K., Kreitschmann‐Andermahr, I., Sure, U., & Zhu, Y. (2017) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.13105 · Cited by 40 · see citing works
Riolo, G., Ricci, C., & Battistini, S. (2021) · Cells · doi:10.3390/cells10030704 · Cited by 39 · see citing works
Management of Unruptured Intracranial Aneurysms and Cerebrovascular Malformations
Flemming, K. D., & Lanzino, G. S. (2017) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000418 · Cited by 38 · see citing works
Perrelli, A., & Retta, S. F. (2021) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2021.06.021 · Cited by 38 · see citing works
Cerebral Cavernous Malformation, Familial
Morrison, L. A., & Akers, A. L. (2016) · University of Washington, Seattle eBooks · Cited by 38 · see citing works
Review of familial cerebral cavernous malformations and report of seven additional families
de Vos, I. J. H. M., Vreeburg, M., Koek, G. H., & Steensel, M. A. M. V. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38028 · Cited by 36 · see citing works
Loss of endothelial programmed cell death 10 activates glioblastoma cells and promotes tumor growth
Zhu, Y., Zhao, K., Prinz, A., Keyvani, K., Lambertz, N., Kreitschmann‐Andermahr, I., Lei, T., & Sure, U. (2015) · Neuro-Oncology · doi:10.1093/neuonc/nov155 · Cited by 36 · see citing works
Alam, T., Alazmi, M., Gao, X., & Arold, S. T. (2014) · Biochemical Journal · doi:10.1042/bj20140298 · Cited by 34 · see citing works
Scimone, C., Bramanti, P., Ruggeri, A., Donato, L., Alafaci, C., Crisafulli, C., Mucciardi, M., Rinaldi, C., Sidoti, A., & D’Angelo, R. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0332-0 · Cited by 33 · see citing works
Genetic syndromes with vascular malformations – update on molecular background and diagnostics
Ustaszewski, A., Janowska-Głowacka, J., Wołyńska, K., Pietrzak, A., & Badura‐Stronka, M. (2020) · Archives of Medical Science · doi:10.5114/aoms.2020.93260 · Cited by 30 · see citing works
Immunothrombosis and vascular heterogeneity in cerebral cavernous malformation
Globisch, M. A., Onyeogaziri, F. C., Jauhiainen, S., Yau, A. C. Y., Orsenigo, F., Conze, L. L., Arce, M., Corada, M., Smith, R., Rorsman, C., et al. (2022) · Blood · doi:10.1182/blood.2021015350 · Cited by 30 · see citing works
Endothelial cell disease: emerging knowledge from cerebral cavernous malformations
Lampugnani, M. G., Malinverno, M., Dejana, E., & Rudini, N. (2017) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000338 · Cited by 28 · see citing works
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
Scimone, C., Bramanti, P., Ruggeri, A., Katsarou, Z., Donato, L., Sidoti, A., & D’Angelo, R. (2015) · Journal of Molecular Neuroscience · doi:10.1007/s12031-015-0606-6 · Cited by 28 · see citing works
Breaking and building the wall: the biology of the blood-brain barrier in health and disease
Keller, A. (2013) · Swiss Medical Weekly · doi:10.4414/smw.2013.13892 · Cited by 27 · see citing works
Fang, Z., Sun, X., Wang, X., Ma, J., Palaia, T., Rana, U., Miao, B., Ragolia, L., Hu, W., & Miao, Q. R. (2022) · Journal of Clinical Investigation · doi:10.1172/jci151382 · Cited by 26 · see citing works
Could propranolol be beneficial in adult cerebral cavernous malformations?
Apra, C., Dumot, C., Bourdillon, P., & Pélissou-Guyotat, I. (2019) · Neurosurgical Review · doi:10.1007/s10143-018-01074-0 · Cited by 26 · see citing works
Lack of Flvcr2 impairs brain angiogenesis without affecting the blood-brain barrier
Santander, N. G., Lizama, C. O., Meky, E. M., McKinsey, G. L., Jung, B., Sheppard, D., Betsholtz, C., & Arnold, T. D. (2020) · Journal of Clinical Investigation · doi:10.1172/jci136578 · Cited by 24 · see citing works
The Interplay Between Brain Vascular Calcification and Microglia
Maheshwari, U., Huang, S., Sridhar, S., & Keller, A. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.848495 · Cited by 24 · see citing works
Vasculature is getting Hip(po): Hippo signaling in vascular development and disease
Kobayashi, S., Cox, A. G., Harvey, K. F., & Hogan, B. M. (2023) · Developmental Cell · doi:10.1016/j.devcel.2023.11.002 · Cited by 22 · see citing works
Fauth, C., Rostasy, K. M., Rath, M., Gizewski, E. R., Lederer, A. G., Sure, U., Zschocke, J., & Felbor, U. (2014) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2014.10.023 · Cited by 22 · see citing works
The STRIPAK complex components FAM40A and FAM40B regulate endothelial cell contractility via ROCKs
Suryavanshi, N., Furmston, J., & Ridley, A. J. (2018) · BMC Cell Biology · doi:10.1186/s12860-018-0175-y · Cited by 22 · see citing works
Nogo-B receptor deficiency causes cerebral vasculature defects during embryonic development in mice
Rana, U., Liu, Z., Kumar, S. N., Zhao, B., Hu, W., Bordas, M. L., Cossette, S. M., Szabo, S., Foeckler, J., Weiler-Guettler, H., et al. (2015) · Developmental Biology · doi:10.1016/j.ydbio.2015.12.023 · Cited by 21 · see citing works
Rediscovering the Axolotl as a Model for Thyroid Hormone Dependent Development
Crowner, A., Khatri, S., Blichmann, D., & Voss, S. R. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00237 · Cited by 21 · see citing works
Lin, J., Liang, J., Wen, J., Luo, M., Li, J., Sun, X., Xu, X., Li, J., Wang, D., Wang, J., et al. (2020) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x20914996 · Cited by 21 · see citing works
Mild Hypoxia Accelerates Cerebral Cavernous Malformation Disease Through CX3CR1-CX3CL1 Signaling
Frías-Anaya, E., Gallego-Gutiérrez, H., Gongol, B., Weinsheimer, S., Lai, C. C., Orecchioni, M., Sriram, A., Bui, C., Nelsen, B., Hale, P., et al. (2024) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.123.320367 · Cited by 23 · see citing works
Novel cytokinetic ring components drive negative feedback in cortical contractility
Rehain-Bell, K., Werner, M. E., Doshi, A., Cortes, D. B., Sattler, A., Vuong-Brender, T. T. K., Labouesse, M., & Maddox, A. S. (2020) · Molecular Biology of the Cell · doi:10.1091/mbc.e20-05-0304 · Cited by 20 · see citing works
Pdcd10-Stk24/25 complex controls kidney water reabsorption by regulating Aqp2 membrane targeting
Wang, R., Wu, S., Yang, X., Qian, Y., Choi, J. P., Gao, R., Song, S., Wang, Y., Zhuang, T., Wong, J. J. L., et al. (2021) · JCI Insight · doi:10.1172/jci.insight.142838 · Cited by 21 · see citing works
Circulating biomarkers in familial cerebral cavernous malformation
Lazzaroni, F., Meessen, J. M. T. A., Sun, Y., Lanfranconi, S., Scola, E., D’Alessandris, Q. G., Tassi, L., Carriero, M. R., Castori, M., Marino, S., et al. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104914 · Cited by 20 · see citing works
EndothelialErgexpression is required for embryogenesis and vascular integrity
Han, R., Pacifici, M., Iwamoto, M., & Trojanowska, M. E. (2015) · Organogenesis · doi:10.1080/15476278.2015.1031435 · Cited by 20 · see citing works
When, where and which PIK3CA mutations are pathogenic in congenital disorders
Angulo‐Urarte, A., & Graupera, M. (2022) · Nature Cardiovascular Research · doi:10.1038/s44161-022-00107-8 · Cited by 19 · see citing works
The cerebral cavernous malformation 3 gene is necessary for senescence induction
Guerrero, A. T. G., Iglesias, C., Raguz, S., Floridia, E., Gil, J., Pombo, C. M., & Zalvide, J. B. (2015) · Aging Cell · doi:10.1111/acel.12316 · Cited by 19 · see citing works
Self-citationInduction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Choi, J. P., Yang, X., Foley, M., Wang, X., & Zheng, X. (2017) · Journal of Visualized Experiments · doi:10.3791/56476 · Cited by 18 · see citing works
Endothelial cell–cell adhesion during zebrafish vascular development
Lagendijk, A. K., Yap, A. S., & Hogan, B. M. (2014) · Cell Adhesion & Migration · doi:10.4161/cam.28229 · Cited by 18 · see citing works
Choi, J. P., Foley, M., Zhou, Z., Wong, W.-Y., Gokoolparsadh, N., Arthur, J. S. C., Li, D. Y., & Zheng, X. (2016) · PLoS ONE · doi:10.1371/journal.pone.0160833 · Cited by 18 · see citing works
Interrogating the ccm-3 Gene Network
Lant, B., Pal, S., Chapman, E. M., Yu, B., Witvliet, D. K., Choi, S., Zhao, L., Albigès‐Rizo, C., Faurobert, E., & Derry, W. B. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.08.039 · Cited by 16 · see citing works
Self-citationRole of Delta-Notch signaling in cerebral cavernous malformations
Kar, S., Baisantry, A., Nabavi, A., & Bertalanffy, H. (2016) · Neurosurgical Review · doi:10.1007/s10143-015-0699-y · Cited by 16 · see citing works
Wang, K., Chen, H., Zhou, Z., Zhang, H., Zhou, H. J., & Wang, M. (2021) · Cell & Bioscience · doi:10.1186/s13578-020-00514-z · Cited by 16 · see citing works
Zhang, R., Li, X., & Boggon, T. J. (2015) · Journal of Structural Biology · doi:10.1016/j.jsb.2015.10.006 · Cited by 16 · see citing works
Exploring Coronary Artery Disease GWAs Targets With Functional Links to Immunometabolism
Hughes, M., Lenighan, Y. M., Godson, C., & Roche, H. M. (2018) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2018.00148 · Cited by 16 · see citing works
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3
Schwefel, K., Spiegler, S., Kirchmaier, B. C., Dellweg, P. K. E., Much, C. D., Pané‐Farré, J., Strom, T. M., Riedel, K., Felbor, U., & Rath, M. (2020) · The FASEB Journal · doi:10.1096/fj.201902888r · Cited by 16 · see citing works
Chronic cerebral hypoperfusion induces venous dysfunction via EPAS1 regulation in mice
Wazny, V. K., Mahadevan, A., Nguyen, N. L. U., Wee, H. S.-A., Vipin, A., Lam, T., Tay, K. Y., See, J.-X., Sandhu, G. K., Leow, Y. J., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61614-3 · Cited by 15 · see citing works
Wang, H., Pan, Y., Zhang, Z., Li, X., Xu, Z., Suo, Y., Li, W., & Wang, Y. (2017) · Journal of Molecular Neuroscience · doi:10.1007/s12031-017-0881-5 · Cited by 14 · see citing works
Meschia, J. F., Bushnell, C., Boden-Albala, B. M., Braun, L. T., Bravata, D. M., Chaturvedi, S., Creager, M. A., Eckel, R. H., Fornage, M., Goldstein, L. B., et al. (2014) · Cited by 15 · see citing works
Pericytes in Primary Familial Brain Calcification
Zarb, Y., Franzoso, F. D., & Keller, A. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-16908-4_11 · Cited by 14 · see citing works
Sartages, M., García-Colomer, M., Iglesias, C., Howell, B. W., Macía, M., Peña, P., Pombo, C. M., & Zalvide, J. (2022) · Stroke · doi:10.1161/strokeaha.121.036940 · Cited by 13 · see citing works
Self-citationA novel CCM1mutation associated with multiple cerebral and vertebral cavernous malformations
Lanfranconi, S., Ronchi, D., Ahmed, N., Civelli, V., Basilico, P., Bresolin, N., Comi, G. P., & Corti, S. P. (2014) · BMC Neurology · doi:10.1186/s12883-014-0158-3 · Cited by 13 · see citing works
Rath, M., Jenssen, S. E., Schwefel, K., Spiegler, S., Kleimeier, D., Sperling, C., Kaderali, L., & Felbor, U. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.06.007 · Cited by 13 · see citing works
Yang, X., Dai, Z., Gao, C., Yin, Y., Shi, C., Liu, R., Zhuge, Q., Huang, Y. M., Zhou, B., Han, Z., et al. (2022) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x221105995 · Cited by 12 · see citing works
Yang, D., Guo, Y., Li, B., Yang, D., Ming, P., & Zhang, C. (2024) · International Journal of Hydrogen Energy · doi:10.1016/j.ijhydene.2024.02.047 · Cited by 12 · see citing works
Skowronek, D., Pilz, R. A., Saenko, V. V., Mellinger, L., Singer, D., Ribback, S., Weise, A., Claaßen, K., Büttner, C., Brockmann, E. M., et al. (2025) · Angiogenesis · doi:10.1007/s10456-025-09985-5 · Cited by 12 · see citing works
- 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 › Neurology › Vascular Malformations Diagnosis and Treatment
- Health Sciences › Medicine › Genetics › Vascular Anomalies and Treatments
- Health Sciences › Medicine › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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