Results 21 to 30 of about 2,405 (204)

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy. [PDF]

Brain Behav
CCM1, CCM2, CCM3, MAP3K3, and PIK3CA genes mediate CCM pathogenesis by regulating the RhoA–ROCK, MAP3K3–KLF2/4, and PIK3CA–AKT–mTOR pathways, affecting processes such as cell migration, intercellular junctions, cell proliferation, inflammation, autophagy, EndMT, angiogenesis, and oxidative stress.
Zhang Z, Deng J, Sun W, Wang Z.
europepmc   +2 more sources

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

Frontiers in Neuroscience, 2021
Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms.
Guoqing Han, Li Ma, Huanhuan Qiao, Lin Han, Qiaoli Wu, Qingguo Li   +5 more
doaj   +1 more source

Mechanism for KRIT1 Release of ICAP1-Mediated Suppression of Integrin Activation [PDF]

Molecular Cell, 2013
KRIT1 (Krev/Rap1 Interaction Trapped-1) mutations are observed in ∼40% of autosomal-dominant cerebral cavernous malformations (CCMs), a disease occurring in up to 0.5% of the population. We show that KRIT1 functions as a switch for β1 integrin activation by antagonizing ICAP1 (Integrin Cytoplasmic Associated Protein-1)-mediated modulation of "inside ...
Liu, Weizhi, Draheim, Kyle M., Zhang, Rong, Calderwood, David A., Boggon, Titus J.   +4 more
openaire   +5 more sources

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

Antioxidants, 2022
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta   +6 more
doaj   +1 more source

KRIT1 could serve as a prognostic biomarker for glioma patients

Asian Journal of Surgery
Xiaozhu Zhou, Fanglin Shao, Yujie Xie, Chi Zhang   +3 more
doaj   +3 more sources

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]

, 2017
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik), Cohn-Hokke, P.E. (P.), Flier, W.M. (Wiesje) van der, Holstege, H. (Henne), Meijers-Heijboer, E.J. (Hanne), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Sistermans, E.A. (Erik), Swieten, J.C. (John) van, Weiss, M.M. (Marjan M.)   +9 more
core   +4 more sources

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Frontiers in Neurology, 2022
BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.
Wenyu Liu, Wenyu Liu, Ming Liu, Ming Liu, Di Lu, Di Lu, Jiwei Wang, Jiwei Wang, Zexin Cao, Zexin Cao, Xuchen Liu, Xuchen Liu, Zichao Feng, Zichao Feng, Bin Huang, Bin Huang, Xinyu Wang, Xinyu Wang   +17 more
doaj   +1 more source

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

Identification of the Kelch family protein Nd1-L as a novel molecular interactor of KRIT1.

PLoS ONE, 2012
Loss-of-function mutations of the KRIT1 gene (CCM1) have been associated with the Cerebral Cavernous Malformation (CCM) disease, which is characterized by serious alterations of brain capillary architecture.
Paolo Guazzi, Luca Goitre, Elisa Ferro, Valentina Cutano, Chiara Martino, Lorenza Trabalzini, Saverio Francesco Retta   +6 more
doaj   +1 more source

Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. [PDF]

, 2016
Heart of Glass (HEG1), a transmembrane receptor, and Rasip1, an endothelial-specific Rap1-binding protein, are both essential for cardiovascular development.
de Kreuk, Bart-Jan, Gingras, Alexandre R, Gingras, Anne-Claude, Ginsberg, Mark H, Knight, James Dr, Liu, Jian J   +5 more
core   +2 more sources