Results 181 to 190 of about 4,207 (232)

Lack of CCM1 induces hypersprouting and impairs response to flow [PDF]

Human Molecular Genetics, 2014
Cerebral cavernous malformation (CCM) is a disease of vascular malformations known to be caused by mutations in one of three genes: CCM1, CCM2 or CCM3. Despite several studies, the mechanism of CCM lesion onset remains unclear. Using a Ccm1 knockout mouse model, we studied the morphogenesis of early lesion formation in the retina in order to provide ...
Aubrey C Chan, Chadwick T Davis
exaly   +3 more sources

ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish [PDF]

Human Molecular Genetics, 2008
Cerebral cavernous malformations (CCMs) are a prevalent class of vascular anomalies characterized by thin-walled clusters of malformed blood vessels in the brain. Heritable forms are caused by mutations in CCM1, CCM2 and CCM3, but despite the importance of these factors in vascular biology, an understanding of their molecular and cellular functions ...
Benjamin M Hogan, Jeroen Bussmann
exaly   +5 more sources

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Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2017
Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found ...
Mary T. Labowsky, S. Walter, M. McDonald, P. Mruthyunjaya   +3 more
semanticscholar   +3 more sources

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Human Mutation, 2008
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations.
Mario Habek
exaly   +4 more sources

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

Journal of Molecular Neuroscience, 2010
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, haemorrhage, recurrent headaches and focal neurologic deficit. CCMs can occur as an autosomal dominant trait with incomplete penetrance and a wide phenotypic variability.
PILEGGI, S., BUSCANE, S., RICCI, C., PATROSSO, M. C., MAROCCHI, A., BRUNORI, P., BATTISTINI, S., PENCO, S.   +7 more
openaire   +5 more sources

A novel large deletion in CCM1 gene in a Tunisian family.

Revue Neurologique, 2019
Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one
F. Tinsa, I. Hadj, F. Riant, M. Romdhane, I. Brini, E. Tournier-Lasserve, E. Tournier-Lasserve, Hela Louati, Sonia Abdelhak, S. Hamouda, K. Boussetta   +10 more
semanticscholar   +4 more sources

Combined Cranial Intraosseous and Cerebral Cavernous Malformations With Pathogenic CCM1 Germline Sequence Variations.

JAMA Neurology, 2020
Jian Ren, Yukui Wei, T. Hong
semanticscholar   +3 more sources

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation

Neurosurgical Review, 2006
Familial cerebral cavernous malformations (CCMs) occur with a frequency of 1 in 2000 and may cause recurrent headaches, seizures, and hemorrhagic stroke. Exon-scanning-based methods have identified intragenic mutations in three genes, CCM1, CCM2, and CCM3, in about 70% of familial CCM.
Sabine, Gaetzner, Sonja, Stahl, Oguzkan, Sürücü, Anne, Schaafhausen, Birgit, Halliger-Keller, Helmut, Bertalanffy, Ulrich, Sure, Ute, Felbor   +7 more
openaire   +2 more sources

Users' Guide to NCAR CCM1

1987
This document describes the program design, data organization and operation of the version of NCAR Community Climate Model designated CCM1. The User's Guide is intended to provide in-depth and easy-to-use information about running CCM1, as well as a description of the model structure and data organization in enough detail that a user can begin to add ...
Bath, Linda, Dias, Michael, Williamson, David, Williamson, Gloria, Wolski, Richard   +4 more
openaire   +1 more source

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

Neurology, 2004
Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none.
D J, Verlaan, S B, Laurent, U, Sure, H, Bertalanffy, E, Andermann, F, Andermann, G A, Rouleau, A M, Siegel   +7 more
openaire   +2 more sources