Results 171 to 180 of about 4,207 (232)

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations. [PDF]

Eur J Hum Genet
Chaussenot A, Ayrignac X, Chatron N, Granchon-Riolzir T, Labauge P, Tournier-Lasserve E, Riant F.   +6 more
europepmc   +1 more source

Pediatric Central Nervous System Vascular Malformation : Pathological Review with Diagram. [PDF]

J Korean Neurosurg Soc
Kim SH.
europepmc   +1 more source

CCM Function in the Heart: Working From Outside-In Rather Than Inside-Out. [PDF]

JACC Basic Transl Sci
Kahn ML.
europepmc   +1 more source

Disseminated Cavernous Malformations Due to KRIT1 Gene Mutation Causing Seizure and Spastic Paraparesis. [PDF]

Ann Indian Acad Neurol
Gomathy SB, Das A, Garg A, Srivastava AK.   +3 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

Journal of Medical Genetics, 2020
Background Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes.
F. Bergametti, G. Viot, C. Verny, M. Brechard, C. Denier, P. Labauge, P. Petit, A. Nouet, F. Viallet, A. Chaussenot, D. Hervé, E. Tournier-Lasserve, F. Riant   +12 more
semanticscholar   +4 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.
Maria Grazia Lampugnani, Fabrizio Orsenigo   +1 more
exaly   +3 more sources

Ccm1 Assures Microvascular Integrity During Angiogenesis [PDF]

Translational Stroke Research, 2010
Cerebral cavernous malformations (CCM) are characterized by abnormal dilated intracranial capillaries that predispose to hemorrhage. The development of some CCMs in humans has been attributed to mutations in the CCM1 genes. Currently, contradictory results have been generated regarding the vascular endothelial cell population changes in Ccm1 deficiency
Jun Zhang
exaly   +3 more sources

Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain.

Methods in molecular biology, 2020
Cerebral cavernous malformation (CCM) is driven by changes in the cerebral microvascular endothelial cell population. Mouse models of CCM have successfully recapitulated the disease in vivo; however, dissection of the disease pathogenesis and molecular mechanism is challenging in vivo due to limited access to the involved tissue in live animals ...
Nicholas Nobiletti, A. Glading
semanticscholar   +3 more sources

Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling [PDF]

DMM Disease Models and Mechanisms, 2010
SUMMARYKRIT1, also called CCM1, is a member of a multiprotein complex that contains the products of the CCM2 and PDCD10 (also known as CCM3) loci. Heterozygous loss of any of the genes that encode these proteins leads to cerebral cavernous malformations (CCM), which are vascular lesions that are found in around 0.5% of humans.
Angela J Glading, Mark H Ginsberg
exaly   +3 more sources