Results 11 to 20 of about 3,591 (208)

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation [PDF]

Case Reports in Neurology, 2016
Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +3 more sources

Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]

Korean Journal of Pediatrics, 2016
Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko   +5 more
doaj   +3 more sources

Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis

eLife, 2018
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system.
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried   +5 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

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells

Frontiers in Molecular Biosciences, 2021
Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits.
Christiane D. Much, Barbara S. Sendtner, Konrad Schwefel, Eric Freund, Sander Bekeschus, Oliver Otto, Axel Pagenstecher, Ute Felbor, Matthias Rath, Stefanie Spiegler   +9 more
doaj   +1 more source

Cerebral vascular malformations: pathogenesis and therapy. [PDF]

MedComm (2020)
CVMs management based on imaging genomics and liquid biopsy. In the future, somatic or de novo germline mutation information could be used to direct neurosurgical and medical management of CVMs. Somatic or germline variants can be acquired from imaging genomics or liquid biopsies preoperatively.
He Q, Huo R, Sun Y, Zheng Z, Xu H, Zhao S, Ni Y, Yu Q, Jiao Y, Zhang W, Zhao J, Cao Y.   +11 more
europepmc   +2 more sources

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

CCM2 Expression Parallels That of CCM1 [PDF]

Stroke, 2006
Background and Purpose— Mutations in CCM2 (MGC4607 or malcavernin) cause familial cerebral cavernous malformation (CCM), an autosomal dominant neurovascular disease. Both the function of this molecule and the pathogenesis of the disease remain elusive.
Askin, Seker, Katie L, Pricola, Bulent, Guclu, Ali K, Ozturk, Angeliki, Louvi, Murat, Gunel   +5 more
openaire   +2 more sources

Ccm1 Assures Microvascular Integrity During Angiogenesis [PDF]

Translational Stroke Research, 2010
Cerebral cavernous malformations (CCM) are characterized by abnormal dilated intracranial capillaries that predispose to hemorrhage. The development of some CCMs in humans has been attributed to mutations in the CCM1 genes. Currently, contradictory results have been generated regarding the vascular endothelial cell population changes in Ccm1 deficiency
Huiling, Liu, Daniele, Rigamonti, Ahmed, Badr, Jun, Zhang   +3 more
openaire   +2 more sources