Results 41 to 50 of about 2,293 (187)

Linkage to the CCM2 Locus and Genetic Heterogeneity in Familial Cerebral Cavernous Malformation [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2003
ABSTRACT:Background:Cerebral cavernous malformation (CCM) is a form of intracranial vascular disease that may arise sporadically or be dominantly inherited. Linkage studies have revealed genetic heterogeneity among the dominantly inherited forms suggesting the existence of at least three loci called CCM1, CCM2 and CCM3.Methods:In the present study, we ...
Dupré, Nicolas, Verlaan, Dominique J., Hand, Collette K., Laurent, Sandra B., Turecki, Gustavo, Davenport, W. Jeptha, Acciarri, Nicola, Dichgans, Johannes, Ohkuma, Akio, Siegel, Adrian M., Rouleau, Guy A.   +10 more
openaire   +3 more sources

Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice.

PLoS Biology, 2020
Cerebral cavernous malformations (CCMs) are vascular lesions predominantly developing in the central nervous system (CNS), with no effective treatments other than surgery.
Jia Li, Yang Zhao, Jaesung Choi, Ka Ka Ting, Paul Coleman, Jinbiao Chen, Victoria C Cogger, Li Wan, Zhongsong Shi, Thorleif Moller, Xiangjian Zheng, Mathew A Vadas, Jennifer R Gamble   +12 more
doaj   +1 more source

PDCD10 gene mutations in multiple cerebral cavernous malformations. [PDF]

PLoS ONE, 2014
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits.
Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni P Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, Simona Giovannini, Francesca Notturno, Fausta Ciccocioppo, Lilia Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco   +22 more
doaj   +1 more source

CCM2 Molecular Signaling Pathway [PDF]

, 2009
Cerebral cavernous malformations (CCM) are a central nervous system vascular malformation often responsible for hemorrhagic strokes. Molecular genetic studies have identified three genes (CCMl KRITI, CCM2 Malcavernin, and CCM3 PDCDIO) and four possible ...
Boylan, Arianne J.
core   +1 more source

Lidar detection of high concentrations of ozone and aerosol transported from northeastern Asia over Saga, Japan [PDF]

Atmospheric Chemistry and Physics, 2017
To validate products of the Greenhouse gases Observing SATellite (GOSAT), we observed vertical profiles of aerosols, thin cirrus clouds, and tropospheric ozone with a mobile-lidar system that consisted of a two-wavelength (532 and 1064 nm) polarization ...
O. Uchino, T. Sakai, T. Izumi, T. Nagai, I. Morino, A. Yamazaki, M. Deushi, K. Yumimoto, T. Maki, T. Y. Tanaka, T. Akaho, H. Okumura, K. Arai, T. Nakatsuru, T. Matsunaga, T. Yokota   +15 more
doaj   +1 more source

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

Frontiers in Oncology, 2023
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang   +3 more
doaj   +1 more source

Alternatively spliced isoforms reveal a novel type of PTB domain in CCM2 protein [PDF]

Scientific Reports, 2019
AbstractCerebral cavernous malformations (CCMs) is a microvascular disorder in the central nervous system. Despite tremendous efforts, the causal genetic mutation in some CCM patients has not be identified, raising the possibility of an unknown CCM locus. The CCM2/MGC4607 gene has been identified as one of three known genes causing CCMs. In this report,
Xiaoting Jiang, Akhil Padarti, Yanchun Qu, Shen Sheng, Johnathan Abou-Fadel, Ahmed Badr, Jun Zhang   +6 more
openaire   +2 more sources

Cerebral cavernous malformations: Review of the genetic and protein-protein interactions resulting in disease pathogenesis

Frontiers in Surgery, 2016
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski, M. Yashar S. Kalani, Joseph M. Zabramski   +2 more
doaj   +1 more source

Impaired retinoic acid signaling in cerebral cavernous malformations

Scientific Reports, 2023
The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff, Gwenola Boulday, Claudia J. Rödel, Cécile Otten, Daphné Raphaelle Vannier, Cécile Cardoso, Eva Faurobert, Deepika Dogra, Elisabeth Tournier-Lasserve, Salim Abdelilah-Seyfried   +9 more
doaj   +1 more source

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells

Cells, 2021
Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo, Claudia Ricci, Stefania Battistini   +2 more
doaj   +1 more source