Genetics of cavernous angiomas

P Labauge, C Denier, F Bergametti… - The Lancet …, 2007 - thelancet.com
Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a
sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large …

Genetic causes of vascular malformations

P Brouillard, M Vikkula - Human molecular genetics, 2007 - academic.oup.com
Vascular malformations are localized defects of vascular development. They usually affect a
limited number of vessels in a restricted area of the body. Although most malformations are …

Capillary malformation–arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

I Eerola, LM Boon, JB Mulliken, PE Burrows… - The American Journal of …, 2003 - cell.com
Capillary malformation (CM), or" port-wine stain," is a common cutaneous vascular anomaly
that initially appears as a red macular stain that darkens over years. CM also occurs in …

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

F Bergametti, C Denier, P Labauge, M Arnoult… - The American Journal of …, 2005 - cell.com
Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations
characterized by abnormally enlarged capillary cavities without intervening brain …

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

CL Liquori, MJ Berg, AM Siegel, E Huang… - The American Journal of …, 2003 - cell.com
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central
nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and …

KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions

A Glading, J Han, RA Stockton… - The Journal of cell …, 2007 - rupress.org
Cerebral cavernous malformation (CCM), a disease associated with defective endothelial
junctions, result from autosomal dominant CCM1 mutations that cause loss of KRIT-1 protein …

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

AL Akers, E Johnson, GK Steinberg… - Human molecular …, 2009 - academic.oup.com
Cerebral cavernous malformations (CCMs) are vascular anomalies of the central nervous
system, comprising dilated blood-filled capillaries lacking structural support. The lesions are …

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

JS Zawistowski, L Stalheim, MT Uhlik… - Human molecular …, 2005 - academic.oup.com
Cerebral cavernous malformations (CCMs) are sporadically acquired or inherited vascular
lesions of the central nervous system consisting of clusters of dilated thin-walled blood …

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

J Wüstehube, A Bartol, SS Liebler… - Proceedings of the …, 2010 - National Acad Sciences
Cerebral cavernous malformations (CCM) are frequent vascular abnormalities caused by
mutations in one of the CCM genes. CCM1 (also known as KRIT1) stabilizes endothelial …

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome

F Jobard, B Bouadjar, F Caux… - Human molecular …, 2003 - academic.oup.com
Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous
poikiloderma with photosensitivity. We report the localization to chromosome 20p12. 3 by …