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 +3 more
doaj +4 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 +5 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 +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 +12 more
openaire +3 more sources
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. +7 more
core +7 more sources
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion [PDF]
Frontiers in Molecular Biosciences, 2022 Cerebral cavernous malformations are clusters of aberrant vessels that can lead to severe neurological complications. Pathogenic loss-of-function variants in the CCM1, CCM2, or CCM3 gene are associated with the autosomal dominant form of the disease ...
Robin A. Pilz +8 more
doaj +2 more sources
Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells [PDF]
Frontiers in Molecular Biosciences, 2021 Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits.
Christiane D. Much +9 more
doaj +2 more sources
Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]
Korean Journal of Pediatrics, 2016 Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang +5 more
doaj +3 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. +3 more
openaire +7 more sources
Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot. [PDF]
Mol Genet Genomic MedA potential association of CCM2L loss‐of ‐function variants with developmental anomalies of the heart. ABSTRACT Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Ling D +5 more
europepmc +2 more sources