Results 11 to 20 of about 2,140 (195)

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation [PDF]

Case Reports in Neurology, 2016
Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +4 more sources

Ccm1 Regulates Microvascular Morphogenesis during Angiogenesis [PDF]

Journal of Vascular Research, 2010
Cerebral cavernous malformations (CCMs) are characterized by abnormally dilated intracranial capillaries that have a propensity to bleed. The development of some CCMs in humans has been attributed to mutations in CCM1 and CCM2 genes. In animal models, major cardiovascular defects caused by both gene mutations have been observed. However, the effects of
Huiling, Liu, Daniele, Rigamonti, Ahmed, Badr, Jun, Zhang   +3 more
openaire   +3 more sources

Lack of CCM1 induces hypersprouting and impairs response to flow [PDF]

Human Molecular Genetics, 2014
Cerebral cavernous malformation (CCM) is a disease of vascular malformations known to be caused by mutations in one of three genes: CCM1, CCM2 or CCM3. Despite several studies, the mechanism of CCM lesion onset remains unclear. Using a Ccm1 knockout mouse model, we studied the morphogenesis of early lesion formation in the retina in order to provide ...
Tara M, Mleynek, Aubrey C, Chan, Michael, Redd, Christopher C, Gibson, Chadwick T, Davis, Dallas S, Shi, Tiehua, Chen, Kandis L, Carter, Jing, Ling, Raquel, Blanco, Holger, Gerhardt, Kevin, Whitehead, Dean Y, Li   +12 more
openaire   +3 more sources

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

Journal of Molecular Neuroscience, 2010
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, haemorrhage, recurrent headaches and focal neurologic deficit. CCMs can occur as an autosomal dominant trait with incomplete penetrance and a wide phenotypic variability.
PILEGGI, S., BUSCANE, S., RICCI, C., PATROSSO, M. C., MAROCCHI, A., BRUNORI, P., BATTISTINI, S., PENCO, S.   +7 more
core   +7 more sources

CCM1 regulates vascular-lumen organization by inducing endothelial polarity [PDF]

Journal of Cell Science, 2010
Little is known about the molecular mechanisms that regulate the organization of vascular lumen. In this paper we show that lumen formation correlates with endothelial polarization. Adherens junctions (AJs) and VE-cadherin (VEC, encoded by CDH5) are required for endothelial apicobasal polarity in vitro and during embryonic development.
M. G. Lampugnani, F. Orsenigo, N. Rudini, L. Maddaluno, G. Boulday, F. Chapon, E. Dejana   +6 more
openaire   +4 more sources

ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish [PDF]

Human Molecular Genetics, 2008
Cerebral cavernous malformations (CCMs) are a prevalent class of vascular anomalies characterized by thin-walled clusters of malformed blood vessels in the brain. Heritable forms are caused by mutations in CCM1, CCM2 and CCM3, but despite the importance of these factors in vascular biology, an understanding of their molecular and cellular functions ...
Hogan, Benjamin M., Bussmann, Jeroen, Wolburg, Hartwig, Schulte-Merker, Stefan   +3 more
openaire   +7 more sources

KLF4 is a key determinant in the development and progression of cerebral cavernous malformations [PDF]

EMBO Molecular Medicine, 2015
Cerebral cavernous malformations (CCMs) are vascular malformations located within the central nervous system often resulting in cerebral hemorrhage. Pharmacological treatment is needed, since current therapy is limited to neurosurgery.
Roberto Cuttano, Noemi Rudini, Luca Bravi, Monica Corada, Costanza Giampietro, Eleanna Papa, Marco Francesco Morini, Luigi Maddaluno, Nicolas Baeyens, Ralf H Adams, Mukesh K Jain, Gary K Owens, Martin Schwartz, Maria Grazia Lampugnani, Elisabetta Dejana   +14 more
doaj   +3 more sources

Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis

eLife, 2018
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system.
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried   +5 more
doaj   +3 more sources

Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations. [PDF]

Eur J Neurol
ABSTRACT Background and Purpose Familial cerebral cavernous malformations (fCCM) may cause focal neurological deficits (FND) due to hemorrhagic or non‐hemorrhagic events and epileptic seizures (ES). With the widespread use of magnetic resonance imaging (MRI) and genetic testing, diagnosis is now frequently established at a presymptomatic stage, before ...
Popa CR, Hervé D, Alili N, Dubus E, Taleb A, Fernandes F, Riant F, Lasserve ET, Lambert L, Chabriat H, Guey S.   +10 more
europepmc   +2 more sources

YAP Fuels Cerebral Cavernous Malformations by Regulating KLF4 Transcriptional Activity and Protein Stability. [PDF]

MedComm (2020)
Cerebral cavernous malformation (CCM) gene complex deficiency dual‐regulates YAP activity via a “dual‐pronged” mechanism: relieving LATS‐mediated inhibition to license YAP nuclear translocation, and promoting MAP3K3‐mediated YAP phosphorylation to stabilize YAP–KLF4 association.
Ye T, Zheng Q, Hu Z, Fan H, Sun Z, Li X, Mo H, Chang C, Xu Y, Wang K, Fang D, Song H.   +11 more
europepmc   +2 more sources