Cerebral cavernous malformations 2

Common Name(s)

Cerebral cavernous malformations 2

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebral cavernous malformations 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebral cavernous malformations 2" returned 3 free, full-text research articles on human participants. First 3 results:

Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus.
 

Author(s): Oriana S Fisher, Rong Zhang, Xiaofeng Li, James W Murphy, Borries Demeler, Titus J Boggon

Journal: FEBS Lett.. 2013 Jan;587(3):272-7.

 

Cerebral cavernous malformations (CCM) are neurovascular dysplasias affecting up to 0.5% of the population. Mutations in the CCM2 gene are associated with acquisition of CCM. We identify a previously uncharacterized domain at the C-terminus of CCM2 and determine its 1.9Å resolution ...

Last Updated: 29 Jan 2013

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Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice.
 

Author(s): Aubrey C Chan, Stavros G Drakos, Oscar E Ruiz, Alexandra C H Smith, Christopher C Gibson, Jing Ling, Samuel F Passi, Amber N Stratman, Anastasia Sacharidou, M Patricia Revelo, Allie H Grossmann, Nikolaos A Diakos, George E Davis, Mark M Metzstein, Kevin J Whitehead, Dean Y Li

Journal: J. Clin. Invest.. 2011 May;121(5):1871-81.

 

Cerebral cavernous malformations (CCMs) are a common type of vascular malformation in the brain that are a major cause of hemorrhagic stroke. This condition has been independently linked to 3 separate genes: Krev1 interaction trapped (KRIT1), Cerebral cavernous malformation 2 (CCM2), ...

Last Updated: 3 May 2011

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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
 

Author(s): Christina L Liquori, Michel J Berg, Adrian M Siegel, Elizabeth Huang, Jon S Zawistowski, T'Prien Stoffer, Dominique Verlaan, Fiyinfolu Balogun, Lori Hughes, Tracey P Leedom, Nicholas W Plummer, Milena Cannella, Vittorio Maglione, Ferdinando Squitieri, Eric W Johnson, Guy A Rouleau, Louis Ptacek, Douglas A Marchuk

Journal: Am. J. Hum. Genet.. 2003 Dec;73(6):1459-64.

 

Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report ...

Last Updated: 5 Dec 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cerebral cavernous malformations 2" returned 0 free, full-text review articles on human participants.

 
 
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