Results 161 to 170 of about 1,858 (192)

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family

Journal of Clinical Neuroscience, 2011
Familial cerebral cavernous malformations (CCMs) are characterized by an autosomal dominant transmission with incomplete penetrance. We have previously reported a 1292delAT mutation in the CCM1 gene in a Chinese family with CCM. Here we report a novel deletion of CCM1 that correlates strongly with CCM formation in another family.
Liqian Xie, Ying Mao
exaly   +3 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 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

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

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

Nature Genetics, 1999
Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in the general population. They may be inherited
Sophie Laberge, Anne Joutel, Elisabeth Tournier-Lasserve   +2 more
exaly   +3 more sources

Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas

Neurology, 2003
Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM cases. The authors investigated the role that mutations at the CCM1 locus play in sporadic cavernomas and the prevalence ...
P, Reich, J, Winkler, A, Straube, H J, Steiger, A, Peraud   +4 more
openaire   +2 more sources

Regulation of a carbon concentrating mechanism through CCM1 in Chlamydomonas reinhardtii

Australian Journal of Plant Physiology, 2002
Aquatic photosynthetic organisms, including the green alga, Chlamydomonas reinhardtii , induce a set of genes for a carbon concentrating mechanism (CCM) through the CO2-signalling system, to acclimate to CO2-limiting stress conditions. We have described a regulatory gene, Ccm1 , which was shown to regulate CCM induction in C. reinhardtii .
Kenji, Miura, Tsutomu, Kohinata, Satoshi, Yoshioka, Kanji, Ohyama, Hideya, Fukuzawa   +4 more
openaire   +2 more sources

Sensitivity of the CCM1 hydrologic cycle to CO₂

Journal of Geophysical Research: Atmospheres, 1996
To better understand the global hydrologic cycle, climatological simulations with the National Center for Atmospheric Research global atmospheric general circulation model (GCM) or community climate model (CCM1), coupled to a mixed layer model, are compared to available global hydrologic observations.
J. O. Roads, S. Marshall, R. Oglesby, S.‐C. Chen   +3 more
openaire   +1 more source

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, Scott D, Walter, Marie T, McDonald, Prithvi, Mruthyunjaya   +3 more
openaire   +2 more sources

Modifications and Enhancements to the NCAR Community Climate Model (CCM1)

1989
This report describes the two new unresequenced program libraries created for CCM1 in the early fall, 1988 which incorporate fixes to several bugs that were discovered earlier, improvements in computational performance, and a number of other enhancements to components of the model.
Hack, James, Bath, Linda, Williamson, Gloria, Boville, Byron   +3 more
openaire   +1 more source