Results 21 to 30 of about 2,140 (195)

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

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

Rapamycin Partially Reverts Cavernoma Endothelial Cell Phenotype and, When Combined With Lapatinib, Ameliorates Chronic Lesions. [PDF]

J Cell Mol Med
ABSTRACT This study investigates the impact of rapamycin and propranolol on cerebral cavernous malformations (CCMs). Employing an unbiased transcriptomic analysis, we aimed to comprehensively elucidate the molecular mechanisms underlying these drug effects.
García-Colomer M, Martínez JE, Díaz-Gómez L, Sartages M, Esquinas-Román EM, Riobello C, Martínez-Delgado D, González-Pérez D, Gómez-Durán A, Fidalgo M, Varela-Rey M, Pombo CM, Zalvide J.   +12 more
europepmc   +2 more sources

NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation–mediated CCM1/2 expression

The Journal of Clinical Investigation, 2022
The loss function of cerebral cavernous malformation (CCM) genes leads to most CCM lesions characterized by enlarged leaking vascular lesions in the brain.
Zhi Fang, Xiaoran Sun, Xiang Wang, Ji Ma, Thomas Palaia, Ujala Rana, Benjamin Miao, Louis Ragolia, Wenquan Hu, Qing Robert Miao   +9 more
doaj   +1 more source

Novel functions of CCM1 delimit the relationship of PTB/PH domains [PDF]

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2017
Three NPXY motifs and one FERM domain in CCM1 makes it a versatile scaffold protein for tethering the signaling components together within the CCM signaling complex (CSC). The cellular role of CCM1 protein remains inadequately expounded. Both phosphotyrosine binding (PTB) and pleckstrin homology (PH) domains were recognized as structurally related but ...
Jun, Zhang, Pallavi, Dubey, Akhil, Padarti, Aileen, Zhang, Rinkal, Patel, Vipulkumar, Patel, David, Cistola, Ahmed, Badr   +7 more
openaire   +2 more sources

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice.

PLoS Biology, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions predominantly developing in the central nervous system (CNS), with no effective treatments other than surgery.
Jia Li, Yang Zhao, Jaesung Choi, Ka Ka Ting, Paul Coleman, Jinbiao Chen, Victoria C Cogger, Li Wan, Zhongsong Shi, Thorleif Moller, Xiangjian Zheng, Mathew A Vadas, Jennifer R Gamble   +12 more
doaj   +1 more source

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view

Frontiers in Neuroscience, 2023
Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly.
Yanming Chen, Xuchen Dong, Ye Wang, Haijun Lv, Nan Chen, Zhongyong Wang, Si Chen, Ping Chen, Sheng Xiao, Jizong Zhao, Jizong Zhao, Jizong Zhao, Jun Dong   +12 more
doaj   +1 more source

PDCD10 gene mutations in multiple cerebral cavernous malformations. [PDF]

PLoS ONE, 2014
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits.
Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni P Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, Simona Giovannini, Francesca Notturno, Fausta Ciccocioppo, Lilia Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco   +22 more
doaj   +1 more source

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

Frontiers in Oncology, 2023
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang   +3 more
doaj   +1 more source