A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

By Pagenstecher Axel   Stahl Sonja   Sure Ulrich   Felbor Ute  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 911-918

Oxford University Press

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A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

By McDonald David A.   Shenkar Robert   Shi Changbin   Stockton Rebecca A.   Akers Amy L.   Kucherlapati Melanie H.   Kucherlapati Raju   Brainer James   Ginsberg Mark H.   Awad Issam A.   Marchuk Douglas A.  

Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 211-222

Oxford University Press

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

By Zawistowski Jon S.  

Human Molecular Genetics, Vol. 14, Iss. 17, 2005-09 ,pp. : 2521-2531

Oxford University Press

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KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations ( CCM1 ) pathogenesis

By Serebriiskii I.G.  

Human Molecular Genetics, Vol. 11, Iss. 4, 2002-02 ,pp. : 389-396

Oxford University Press

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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations ( CCM1 )

By Sahoo Trilochan   Johnson Eric W.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2325-2333

Oxford University Press

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