Results 11 to 20 of about 3,789 (186)

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Frontiers in Neurology, 2020
Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj   +3 more sources

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

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   +3 more sources

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance [PDF]

Frontiers in Neurology, 2018
Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the
Concetta Scimone, Concetta Scimone, Luigi Donato, Luigi Donato, Luigi Donato, Zoe Katsarou, Sevasti Bostantjopoulou, Rosalia D'Angelo, Antonina Sidoti, Antonina Sidoti   +9 more
doaj   +4 more sources

A novel CCM2 gene mutation associated with family cerebral cavernous malformation [PDF]

Frontiers in Aging Neuroscience, 2016
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma.
Wen-Qing Huang, Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Liang-Liang Cai, Ming-Li Li, Ming-Li Li, Han Wang, Han Wang, Qing Lin, Qing Lin, Chi-Meng Tzeng, Chi-Meng Tzeng, Chi-Meng Tzeng   +16 more
doaj   +3 more sources

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Frontiers in Neurology, 2019
Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic
Christiane D. Much, Konrad Schwefel, Dariush Skowronek, Loay Shoubash, Felix von Podewils, Miriam Elbracht, Stefanie Spiegler, Ingo Kurth, Agnes Flöel, Henry W. S. Schroeder, Ute Felbor, Matthias Rath   +11 more
doaj   +4 more sources

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

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 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   +8 more sources

Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. [PDF]

PLoS ONE, 2016
Mutations in CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation in humans. Mouse models of CCM disease have been established by deleting Ccm genes in postnatal animals.
Jaesung P Choi, Matthew Foley, Zinan Zhou, Weng-Yew Wong, Naveena Gokoolparsadh, J Simon C Arthur, Dean Y Li, Xiangjian Zheng   +7 more
doaj   +5 more sources

Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations

Frontiers in Neurology, 2018
Familial cerebral cavernous malformations (CCMs) are autosomal dominant disorders characterized by hemorrhagic strokes, recurrent headache, epilepsy, and focal neurological deficits.
Kang Wang, Dengchang Wu, Baorong Zhang, Guohua Zhao, Guohua Zhao   +4 more
doaj   +3 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 more sources

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation. [PDF]

Brain Behav
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Zhu X, Yao Y, Yu T, Xiao X.
europepmc   +2 more sources