Results 101 to 110 of about 2,140 (195)

Association of Cardiovascular Risk Factors with Disease Severity in Cerebral Cavernous Malformation Type 1 Subjects with the Common Hispanic Mutation [PDF]

, 2014
BackgroundCerebral cavernous malformations (CCM) are enlarged vascular lesions affecting 0.1-0.5% of the population worldwide and causing hemorrhagic strokes, seizures, and neurological deficits.
Khan, Yasir, Pawlikowska, Ludmila, Morrison, Leslie, Choquet, Hélène, Hart, Blaine, Nelson, Jeffrey, Akers, Amy, Kim, Helen, McCulloch, Charles E, Baca, Beth   +9 more
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Supplementary Material for: Association of Cardiovascular Risk Factors with Disease Severity in Cerebral Cavernous Malformation Type 1 Subjects with the Common Hispanic Mutation

, 2017
Background: Cerebral cavernous malformations (CCM) are enlarged vascular lesions affecting 0.1-0.5% of the population worldwide and causing hemorrhagic strokes, seizures, and neurological deficits.
Choquet H. (4143130), Baca B. (4143124), Nelson J. (4143127), Khan Y. (4143136), Akers A. (4143139), Hart B. (4143142), McCulloch C.E. (4119190), Pawlikowska L. (4119181), Kim H. (3126153), Morrison L. (4143133)   +9 more
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Up-regulation of NADPH oxidase-mediated redox signaling contributes to the loss of barrier function in KRIT1 deficient endothelium

Scientific Reports, 2017
The intracellular scaffold KRIT1/CCM1 is an established regulator of vascular barrier function. Loss of KRIT1 leads to decreased microvessel barrier function and to the development of the vascular disorder Cerebral Cavernous Malformation (CCM).
Luca Goitre, Peter V. DiStefano, Andrea Moglia, Nicholas Nobiletti, Eva Baldini, Lorenza Trabalzini, Julie Keubel, Eliana Trapani, Vladimir V. Shuvaev, Vladimir R. Muzykantov, Ingrid H. Sarelius, Saverio Francesco Retta, Angela J. Glading   +12 more
doaj   +1 more source

A familiar cerebral cavernous malformations (FCCMs) patient with CCM1 deletion-frameshift mutation generates an induced pluripotent stem cell line (NFHHMUi001-A)

Stem Cell Research, 2022
Ruohan Sun, Qi Liu, Long Mu, Aowen Wang, Junjie Zhao, Yu Long, Li Liu   +6 more
doaj   +1 more source

Blood Flow Suppresses Vascular Anomalies in a Zebrafish Model of Cerebral Cavernous Malformations

, 2019
RATIONALE: Pathological biomechanical signaling induces vascular anomalies including cerebral cavernous malformations (CCM), which are caused by a clonal loss of CCM1/KRIT1 (Krev interaction trapped protein 1), CCM2/MGC4607, or CCM3/PDCD10.
Lourenço, Marta Sofia Rocha, Abdelilah-Seyfried, Salim (Prof. Dr. rer. nat.), Kuropka, Benno, Freund, Christian, Paolini, Alessio (Dr.), Rödel, Claudia Jasmin, Donat, Stefan (Dr.), Fischer, Dorothea, Otten, Cecile (Dr.)   +8 more
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Symptomatic midbrain cerebral cavernous malformation after extreme altitude exposure: a case report and PRISMA-guided structured literature review

Interdisciplinary Neurosurgery
Background: It is unknown whether hypoxic exposure or extreme altitude can precipitate cerebral cavernous malformation (CCM) instability or hemorrhage.Case Presentation: A 25-year-old man with familial CCM1/KRIT1 disease developed acute vertigo and ...
Bader Ali, Ahmad Sweid, Justine Lee, Georgio Sader, Agnieszka Stadnik, Miguel A. Lopez-Ramirez, Robert Shenkar, Issam A. Awad   +7 more
doaj   +1 more source

Role of CCM1 loss-of-function-induced endothelial-to-mesenchymal transition in the development of cavernous malformations [PDF]

, 2013
pre-printCerebral cavernous malformations (CCM) occur in two variants: sporadic and familial. Mutations in three genes-CCM1, CCM2, and CCM3-play a role in both subtypes, with mouse models showing the development of multiple cavernous malformations in ...
Couldwell, William T., Guan, Jian
core  

Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations

EMBO Molecular Medicine
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Krüppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene
Van-Cuong Pham, Claudia Jasmin Rödel, Mariaelena Valentino, Matteo Malinverno, Alessio Paolini, Juliane Münch, Candice Pasquier, Favour C Onyeogaziri, Bojana Lazovic, Romuald Girard, Janne Koskimäki, Melina Hußmann, Benjamin Keith, Daniel Jachimowicz, Franziska Kohl, Astrid Hagelkruys, Josef M Penninger, Stefan Schulte-Merker, Issam A Awad, Ryan Hicks, Peetra U Magnusson, Eva Faurobert, Massimiliano Pagani, Salim Abdelilah-Seyfried   +23 more
doaj   +1 more source

IDENTIFICATION DU GENE CCM1 IMPLIQUE DANS LES CAVERNOMATOSES CEREBRALES FAMILIALES

, 2001
LES CAVERNOMES CEREBRAUX SONT DES MALFORMATIONS VASCULAIRES DU SYSTEME NERVEUX CENTRAL. LEUR PREVALENCE EST ESTIMEE A 0.1% ; ENVIRON 20% DES CAS CORRESPONDENT A UNE MALADIE HEREDITAIRE A TRANSMISSION AUTOSOMIQUE DOMINANTE.
TOURNIER LASSERVE, ELISABETH, LABERGE LE COUTEULX, SOPHIE   +1 more
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A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

, 2010
Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system appearing as multicavernous, blood-filled capillaries, leading to headache, seizure and hemorrhagic stroke.
R. Kucherlapati, Raju Kucherlapati, Melanie H Kucherlapati, Rebecca A Stockton, Issam A Awad, I. A. Awad, Mark H Ginsberg, R. Shenkar, Changbin Shi, Robert Shenkar, C. Shi, R. A. Stockton, David A Mcdonald, Douglas A Marchuk, Amy L Akers, A. L. Akers, M. H. Ginsberg, D. A. McDonald, M. H. Kucherlapati, D. A. Marchuk, J. Brainer, James Brainer   +21 more
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