Results 41 to 50 of about 1,951 (186)

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

open access: yesFrontiers 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   +9 more
doaj   +1 more source

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

open access: yesPLoS ONE, 2014
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits.
Maria Sole Cigoli   +22 more
doaj   +1 more source

Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis

open access: yesFrontiers in Surgery, 2016
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski   +2 more
doaj   +1 more source

Alternatively spliced isoforms reveal a novel type of PTB domain in CCM2 protein [PDF]

open access: yesScientific Reports, 2019
AbstractCerebral cavernous malformations (CCMs) is a microvascular disorder in the central nervous system. Despite tremendous efforts, the causal genetic mutation in some CCM patients has not be identified, raising the possibility of an unknown CCM locus. The CCM2/MGC4607 gene has been identified as one of three known genes causing CCMs. In this report,
Xiaoting Jiang   +6 more
openaire   +2 more sources

Diagnóstico molecular de cavernomatosis cerebral

open access: yesNeurología, 2017
Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
doaj   +1 more source

Lidar detection of high concentrations of ozone and aerosol transported from northeastern Asia over Saga, Japan [PDF]

open access: yesAtmospheric Chemistry and Physics, 2017
To validate products of the Greenhouse gases Observing SATellite (GOSAT), we observed vertical profiles of aerosols, thin cirrus clouds, and tropospheric ozone with a mobile-lidar system that consisted of a two-wavelength (532 and 1064 nm) polarization ...
O. Uchino   +15 more
doaj   +1 more source

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

open access: yesFrontiers 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   +3 more
doaj   +1 more source

Molecular diagnosis in cerebral cavernous malformations

open access: yesNeurología (English Edition), 2017
Introduction: Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%.
R. Mondejar, M. Lucas
doaj   +1 more source

Impaired retinoic acid signaling in cerebral cavernous malformations

open access: yesScientific Reports, 2023
The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff   +9 more
doaj   +1 more source

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells

open access: yesCells, 2021
Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo   +2 more
doaj   +1 more source

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