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Concurrent multiple cerebral cavernous malformations and cauda equina paraganglioma: illustrative case. [PDF]

J Neurosurg Case Lessons
Liu D, Rodriguez M, Ross D, Ghahreman A.
europepmc   +1 more source

Expression of CCM2 and CCM3 during mouse gonadogenesis [PDF]

Journal of Assisted Reproduction and Genetics, 2015
Three cerebral cavernous malformation (CCM) proteins, CCM1, CCM2, and CCM3, regulate cell-cell adhesion, cell shape and polarity, and most likely cell adhesion to extracellular matrix. Recently, CCM2 and CCM3 are known to be expressed in control and varicocele-induced rat testes, but little is known about these proteins during gonadogenesis.
Aylin Yaba, Gamze Tanriover, Pinar Sahin
exaly   +4 more sources

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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, Miriam Elbracht, Helmut Bertalanffy   +2 more
exaly   +4 more sources

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

Journal of Medical Genetics, 2020
Background Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2
Bergametti, Françoise, Viot, Geraldine, Verny, Christophe, Brechard, Marie Pierre, Denier, Christian, Labauge, Pierre, Petit, Paul, Nouet, Aurélien, Viallet, François, Chaussenot, Annabelle, Hervé, Dominique, Tournier-Lasserve, Elisabeth, Riant, Florence   +12 more
openaire   +3 more sources

CCM2 expression during prenatal development and adult human neocortex

International Journal of Developmental Neuroscience, 2011
AbstractCerebral cavernous malformation (CCM) is one of the most common types of vascular malformations of the central nervous system, affecting nearly one in 200 people. CCM lesions are characterized by grossly dilated vascular channels lined by a single layer of endothelium.
Gamze Tanriover, Berna Sozen, Necdet Demir   +2 more
exaly   +3 more sources

No CCM2 mutations in a cohort of 31 sporadic cases

Neurology, 2004
Cerebral cavernous malformation (CCM; MIM 116860) is a common disorder that is found in 0.1 to 0.5% of the population and represents ∼10 to 20% of cerebral vascular lesions.1 However, symptomatic disease is considerably less common. The lesions, which affect the brain vasculature, are characterized by abnormally enlarged capillary cavities in the brain
D J, Verlaan, S B, Laurent, G A, Rouleau, A M, Siegel   +3 more
openaire   +2 more sources

NCAR CCM2 simulation of the modern Antarctic climate

Journal of Geophysical Research: Atmospheres, 1994
The National Center for Atmospheric Research community climate model version 2 (CCM2) simulation of the circumpolar trough, surface air temperature, the polar vortex, cloudiness, winds, and atmospheric moisture and energy budgets are examined to validate the model's representation of the present‐day Antarctic climate. The results show that the CCM2 can
Ren‐Yow Tzeng, David H. Bromwich, Thomas R. Parish, Biao Chen   +3 more
openaire   +1 more source

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

Neurogenetics, 2007
Individuals carrying a mutation in one of the three cerebral cavernous malformation genes (CCM1/KRIT1, CCM2, CCM3) cannot be clinically distinguished, raising the possibility that they act within common molecular pathways. In this study, we demonstrate that CCM3 (PDCD10) coprecipitates and colocalizes with CCM2. We also show that CCM3 directly binds to
Katrin, Voss, Sonja, Stahl, Elisa, Schleider, Sybille, Ullrich, Joachim, Nickel, Thomas D, Mueller, Ute, Felbor   +6 more
exaly   +3 more sources

CCM2–CCM3 interaction stabilizes their protein expression and permits endothelial network formation [PDF]

Journal of Cell Biology, 2015
Mutations in the essential adaptor proteins CCM2 or CCM3 lead to cerebral cavernous malformations (CCM), vascular lesions that most frequently occur in the brain and are strongly associated with hemorrhagic stroke, seizures, and other neurological disorders.
Rong Zhang, Giulia Villari, Titus J Boggon   +2 more
exaly   +3 more sources

User's Guide to NCAR CCM2

1992
This User's Guide describes the overall design of the most recent version of the NCAR Community Climate Model, CCM2. In addition to in-depth information about running the CCM2 model code, the User's Guide gives a detailed description of the code organization and data structures so that CCM2 can be modified by users as mandated by their particular ...
Bath, Linda, Rosinski, James, Olson, Jerry   +2 more
openaire   +1 more source