The control of vascular integrity by endothelial cell junctions: molecular basis and pathological implications

E Dejana, E Tournier-Lasserve, BM Weinstein - Developmental cell, 2009 - cell.com
Human pathologies such as vascular malformations, hemorrhagic stroke, and edema have
been associated with defects in the organization of endothelial cell junctions. Understanding …

Epac: defining a new mechanism for cAMP action

M Gloerich, JL Bos - Annual review of pharmacology and …, 2010 - annualreviews.org
cAMP is a second messenger that is essential for relaying hormonal responses in many
biological processes. The discovery of the cAMP target Epac explained various effects of …

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 …

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

RA Stockton, R Shenkar, IA Awad… - Journal of Experimental …, 2010 - rupress.org
Endothelial cell–cell junctions regulate vascular permeability, vasculogenesis, and
angiogenesis. Familial cerebral cavernous malformations (CCMs) in humans result from …

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

SL Couteulx, HH Jung, P Labauge, JP Houtteville… - Nature …, 1999 - nature.com
Cavernous angiomas are vascular malformations mostly located in the central nervous
system and characterized by enlarged capillary cavities without intervening brain …

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 …

Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)

T Sahoo, EW Johnson, JW Thomas… - Human molecular …, 1999 - academic.oup.com
Cerebral cavernous malformations (CCM) are congenital vascular anomalies of the brain
that can cause significant neurological disabilities, including intractable seizures and …

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 …