Results 171 to 180 of about 1,858 (192)

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
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Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation

Neurology, 2005
Cerebral cavernous malformations (CCMs) are heterogeneous vascular malformations that may cause headaches, seizures, focal neurologic deficits, stroke, and death. With an incidence of 0.1 to 0.5%, they constitute 10 to 20% of all CNS vascular malformations.1 Heterozygous loss-of-function mutations have been identified in KRIT1 ( CCM1 ),2 MGC4607 ( CCM2
M F, Waters, D C, Shields, N A, Martin, R W, Baloh, J C, Jen   +4 more
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A 100-Yr CCM1 Simulation of North China's Hydrologic Cycle

Journal of Climate, 1996
Abstract The year to year variability in North China's summertime hydrologic cycle is analyzed in a 100-yr CCM1 simulation. Eastern North America is included for comparative purposes with earlier work. On the basis of the simulated inherent variability of the regionally averaged soil moisture, each year's climate pattern over these two regions is ...
Zengquan Fan, Robert J. Oglesby
openaire   +1 more source

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

Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain

2020
Cerebral cavernous malformation (CCM) is driven by changes in the cerebral microvascular endothelial cell population. Mouse models of CCM have successfully recapitulated the disease in vivo; however, dissection of the disease pathogenesis and molecular mechanism is challenging in vivo due to limited access to the involved tissue in live animals ...
Nicholas, Nobiletti, Angela J, Glading
openaire   +2 more sources

Whole-genome Omics delineates the function of CCM1 within the CmPn networks

2023
Abstract Introduction Cerebral cavernous malformations (CCMs) are abnormal dilations of brain capillaries that increase the risk of hemorrhagic strokes. Mutations in the KRIT1, MGC4607, and PDCD10 genes cause CCMs, with mutations in CCM1 accounting for about 50% of familial cases.
Jacob Croft, Brian Grajeda, Luis A Aguirre, Liyuan Gao, Johnathan Abou-Fadel, Victor Sheng, Jun Zhang   +6 more
openaire   +1 more source

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

Acta Neuropathologica, 2002
Cavernous malformations are vascular anomalies that can cause severe neurological deficits, seizures and hemorrhagic stroke if these lesions are located in the brain. In patients with cavernomas, constitutional mutations of the KRIT1 gene have been identified. The pathogenetic mechanisms leading to cerebral cavernous malformations (CCM) development are
Hildegard, Kehrer-Sawatzki, Monika, Wilda, Veit M, Braun, Hans-Peter, Richter, Horst, Hameister   +4 more
openaire   +2 more sources

[Analysis of CCM1 gene mutations in Chinese patients with intracranial cavernous malformations].

Zhonghua yi xue za zhi, 2007
To study the CCM1 gene (7q11.2 - q22) mutations in Chinese patients with intracranial cavernous malformations (ICM), METHODS: Peripheral blood samples were collected from 25 unrelated patients with ICM confirmed by post-operational pathology, 7 being with familial ICM, all of Han nationality, and from 30 healthy people as controls.
Rong, Xie, Xian-cheng, Chen, Yong-feng, Fan, Ying, Xia, Liang, Gao, Xiao-mu, Li   +5 more
openaire   +1 more source

Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature

International Journal of Molecular Sciences, 2023
Robin A Pilz, Dariush Skowronek, Sander Bekeschus   +2 more
exaly  

Description of the NCAR Community Climate Model (CCM1)

1987
Williamson, David, Kiehl, Jeffrey, Ramanathan, Veerabhadran, Dickinson, Robert, Hack, James   +4 more
openaire   +1 more source