Results 51 to 60 of about 1,916 (204)

Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]

, 2010
Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Shantan Reddy, Michael B. Gorin, Tara A. McCannel, Irena Tsui, Bradley R. Straatsma   +4 more
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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis [PDF]

Human Molecular Genetics, 2008
Cerebral cavernous malformations (CCMs) are vascular anomalies of the central nervous system, comprising dilated blood-filled capillaries lacking structural support. The lesions are prone to rupture, resulting in seizures or hemorrhagic stroke. CCM can occur sporadically, manifesting as solitary lesions, but also in families, where multiple lesions ...
Amy L, Akers, Eric, Johnson, Gary K, Steinberg, Joseph M, Zabramski, Douglas A, Marchuk   +4 more
openaire   +2 more sources

Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

Trends in Molecular Medicine, 2013
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 ...
Andreas, Fischer, Juan, Zalvide, Eva, Faurobert, Corinne, Albiges-Rizo, Elisabeth, Tournier-Lasserve   +4 more
openaire   +4 more sources

Small GTPase Rap1 Is Essential for Mouse Development and Formation of Functional Vasculature [PDF]

, 2015
BACKGROUND: Small GTPase Rap1 has been implicated in a number of basic cellular functions, including cell-cell and cell-matrix adhesion, proliferation and regulation of polarity.
Chrzanowska-Wodnicka, Magdalena, Quilliam, Lawrence A., White, Gilbert C., Whitehead, Kevin J.   +3 more
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Inflammation and neutrophil extracellular traps in cerebral cavernous malformation [PDF]

, 2022
Correction: Volume79, Issue7 Article Number: 388 DOI: 10.1007/s00018-022-04418-8Cerebral Cavernous Malformation (CCM) is a brain vascular disease with various neurological symptoms.
Conze, Lei L., Corada, Monica, Dejana, Elisabetta, Garlanda, Cecilia, Globisch, Maria Ascencion, Herre, Melanie, Huang, Hua, Jahromi, Behnam Rezai, Jauhiainen, Suvi, Laakso, Aki, Lampugnani, Maria Grazia, Magnusson, Peetra U., Malinverno, Matteo, Mantovani, Alberto, Niemelä, Mika, Olsson, Anna-Karin, Onyeogaziri, Favour Chinyere, Orsenigo, Fabrizio, Smith, Ross, Sundell, Veronica, Yau, Anthony C. Y.   +20 more
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Cerebral Glioblastoma Mimicking a Cavernous Malformation: A Case Report and Literature Review

Brain Science Advances, 2017
Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations (CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition.
Jiefei Li, Yuqi Zhang, Huancong Zuo
doaj   +1 more source

Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations [PDF]

, 2010
OBJECT: Cerebral cavernous malformations (CCMs) are among the most prevalent cerebrovascular malformations, and endothelial cells seem to play a major role in the disease.
Chappell PM, Felbor U, Hilder TL, Revencu N, Robinson JR, Stahl S, Tsukita S, Vestweber D, Zhu Y   +8 more
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Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease [PDF]

, 2022
BackgroundCerebral cavernous malformations (CCMs) are neurovascular lesions caused by loss of function mutations in 1 of 3 genes, including KRIT1 (CCM1), CCM2, and PDCD10 (CCM3). CCMs affect ≈1 out of 200 children and adults, and no pharmacologic therapy
Frias-Anaya, Eduardo, Gallego-Gutierrez, Helios, Gongol, Brendan, Herrera, Victoria, Lai, Catherine Chinhchu, Ley, Klaus, Lopez-Ramirez, Miguel Alejandro, Mesarwi, Omar A, Nelsen, Bliss, Orecchioni, Marco, Ortiz, Elan, Sun, Hao   +11 more
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Defective autophagy is a key feature of cerebral cavernous malformations

EMBO Molecular Medicine, 2015
Cerebral cavernous malformation (CCM) is a major cerebrovascular disease affecting approximately 0.3–0.5% of the population and is characterized by enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal ...
Saverio Marchi, Mariangela Corricelli, Eliana Trapani, Luca Bravi, Alessandra Pittaro, Simona Delle Monache, Letizia Ferroni, Simone Patergnani, Sonia Missiroli, Luca Goitre, Lorenza Trabalzini, Alessandro Rimessi, Carlotta Giorgi, Barbara Zavan, Paola Cassoni, Elisabetta Dejana, Saverio Francesco Retta, Paolo Pinton   +17 more
doaj   +1 more source

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene [PDF]

, 2015
Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature.
Al-Shahi Salman R, Batra S, de Champfleur NM, DeAngelis LM, Haasdijk RA, Labauge P, Lehnhardt FG, Marosi C, Riant F, Riemenschneider MJ, Schröder W, Shen Y, Spiegler S, Whittle IR, Zabramski JM   +14 more
core   +1 more source