Results 191 to 200 of about 4,207 (232)

CCM1 gene mutations in families segregating cerebral cavernous malformations

Neurology, 2001
Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM.
W J, Davenport, A M, Siegel, J, Dichgans, P, Drigo, I, Mammi, P, Pereda, N W, Wood, G A, Rouleau   +7 more
openaire   +2 more sources

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis [PDF]

Human Molecular Genetics, 2005
Cerebral cavernous malformations (CCMs) are sporadically acquired or inherited vascular lesions of the central nervous system consisting of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke. Familial CCM is caused by mutations in KRIT1 (CCM1) or in malcavernin (CCM2), the murine ortholog of which was ...
Gary L Johnson, Douglas A Marchuk
exaly   +3 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
S, Laberge-le Couteulx, H H, Jung, P, Labauge, J P, Houtteville, C, Lescoat, M, Cecillon, E, Marechal, A, Joutel, J F, Bach, E, Tournier-Lasserve   +9 more
openaire   +2 more sources

Cerebral cavernous malformation proteins, CCM1, CCM2 and CCM3, are decreased in metastatic lesions in a murine breast carcinoma model

Biotechnic & Histochemistry
Three genes are associated with cerebral cavernous malformations (CCMs): CCM1, CCM2 and CCM3. These genes participate in microvascular angiogenesis, cell-to-cell junctions, migration and apoptosis.
Mansur Cici, S. Dilmac, Güneş Aytaç, G. Tanriover   +3 more
semanticscholar   +1 more source

Simulation of the Modern Arctic Climate by the NCAR CCM1

Journal of Climate, 1994
The National Center of Atmospheric Research (NCAR) Community Climate Model Version 1 (CCM1's) simulation of the modern arctic climate is evaluated by comparing a five-year seasonal cycle simulation with the European Center for Medium-Range Weather Forecasts (ECMWF) global analyses.
David H. Bromwich, Ren-Yow Tzeng, Thomas R. Parish   +2 more
openaire   +1 more source

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

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

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

Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations

Annals of Neurology, 2001
AbstractMutations in the Krit1 gene have been recently discovered as the cause of hereditary cerebral cavernous angioma. We sought the possibility that de novo, noninherited mutations of Krit1 also cause cavernous angioma. A patient with two cerebral malformations carries a heterozygous deletion of two base pairs (741delTC) in exon VI of the Krit1 gene.
M, Lucas, A F, Costa, M, Montori, F, Solano, M D, Zayas, G, Izquierdo   +5 more
openaire   +2 more sources

Diagnostic de cavernomatose CCM1 devant une atteinte cutanée : savoir y penser

Revue Neurologique, 2016
Introduction Les malformations veineuses cutanees orientent rarement vers des cavernomatoses genetiques. Nous rapportons ici un cas de cavernomatose avec mutation CCM1/Krit1 associee a une atteinte veineuse cutanee. Observation Une femme âgee de 77 ans, suivie pour des malformations veineuses cutanees, presente brutalement un syndrome alterne ...
Nolwenn Riou, Lisa Humbertjean, Gioia Mione, Enea Ana, Jean-Christophe Lacour, Sébastien Richard   +5 more
openaire   +1 more source