Results 91 to 100 of about 1,858 (192)

A Novel CCM3 Mutation Associated with a Severe Clinical Course in a Child with Multiple Cerebral Cavernous Malformations

Journal of Vascular Diseases
Background: Cerebral cavernous malformations (CCMs) are vascular lesions linked to mutations in the CCM1, CCM2, and CCM3 genes, resulting in angiogenesis dysregulation.
Olga Belousova, Denis Semenov, Eugenia Boulygina, Svetlana Tsygankova, Alexander Konovalov   +4 more
doaj   +1 more source

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

Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

Chinese Medical Journal, 2013
Background Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified.
Xue, Wang, Xue-Wu, Liu, Nora, Lee, Qi-Ji, Liu, Wen-Na, Li, Tao, Han, Kun-Kun, Wei, Shan, Qiao, Zhao-Fu, Chi   +8 more
openaire   +2 more sources

Monogenic signs of susceptibility to ischemic stroke: literature review

Ukrainian Neurosurgical Journal, 2016
Genetic factors are the important chain in the complex conditions determining the development of ischemic stroke. Mutations have different significance for the risk of its development.
Vitaliy Tsymbaliuk, Iryna Vasileva
doaj   +1 more source

Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype

, 2010
Cerebral cavernous malformations (CCM) are vascular lesions causing seizures and stroke. Mutations causing inactivation of one of three genes, ccm1, -2, or -3, are sufficient to induce vascular endothelial cell defects resulting in CCM.
Borikova, Asya L., Dibble, Christopher F., Sciaky, Noah, Welch, Christopher M.   +3 more
core   +3 more sources

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
core   +1 more source

Abstract 1645: CEACAM1-blockade for T-cell activation and antitumor T-cell response

, 2017
Immune checkpoint blockade became the most powerful way to control cancer without causing tremendous side effects, since anti-PD-1 blocking antibodies proved their superiority in clinical outcomes to those of traditional chemo- or targeted therapeutics ...
So-Young Eun
core   +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  

Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation

, 2013
Cerebral cavernous malformations are focal vascular abnormalities that show recurrent intralesional microhemorrhage and may cause focal deficits or seizures in affected patients. These lesions occur in both sporadic and inherited autosomal dominant form.
Zhu, Yuan, Gerlach, Rüdiger, Weidensee, Sabine, Hehr, Ute, Sure, Ulrich, Dammann, Philipp   +5 more
core   +1 more source

Zerebrale Kavernomatose - Identifizierung tief-intronischer Varianten in den genomischen Regionen von CCM1, CCM2 und CCM3 mittels Hochdurchsatzsequenzierung [PDF]

, 2016
Zerebrale kavernöse Malformationen (CCM) sind autosomal-dominant vererbbare zerebrovaskuläre Fehlbildungen, die mit unvollständiger Penetranz zu Kopfschmerzen, Krampfanfällen und hämorrhagischen Schlaganfällen führen können.
Jenssen, Sönke Elisabeth
core