Results 31 to 40 of about 2,140 (195)
Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. [PDF]
PLoS ONE, 2016 Mutations in CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation in humans. Mouse models of CCM disease have been established by deleting Ccm genes in postnatal animals.
Jaesung P Choi +7 more
doaj +1 more source
Regional Response of the NCAR CCM1 to Anomalous Surface Properties
Terrestrial, Atmospheric and Oceanic Sciences, 1997 Sensitivity tests of the National Center for Atmospheric Research (NCAR) Community Climate Model-1 (CCM1) response to surface forcing from sea surface temperature (SST) and soil moisture on precipitation are presented. Four experiments were performed, including a control experiment using climatological SSTs, an experiment with 1988 SSTs, which are ...
Wen-Yih Sun +2 more
openaire +1 more source
Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling [PDF]
Disease Models & 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
openaire +2 more sources
Arquivos de Neuro-Psiquiatria, 2008 OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic
Flávio Domingues +7 more
doaj +1 more source
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations [PDF]
, 2014 Background: Cerebral cavernous malformations are relatively rare vascular disorders that may affect any part of the central nervous system. This presentation has been associated with heterozygous mutations in CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10.
D. Ronchi +15 more
core +2 more sources
Scientific Reports, 2021 Cerebral cavernous malformation (CCM) is a vascular lesion of the central nervous system that may lead to distinct symptoms among patients including cerebral hemorrhages, epileptic seizures, focal neurologic deficits, and/or headaches.
Hilal Eren Gozel +4 more
doaj +1 more source
KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell–cell junctions [PDF]
The Journal of Cell Biology, 2007 Cerebral cavernous malformation (CCM), a disease associated with defective endothelial junctions, result from autosomal dominant CCM1 mutations that cause loss of KRIT-1 protein function, though how the loss of KRIT-1 leads to CCM is obscure. KRIT-1 binds to Rap1, a guanosine triphosphatase that maintains the integrity of endothelial junctions.
Glading, Angela +3 more
openaire +4 more sources
, 2005 Cerebral cavernous malformations (CCMs) are sporadically acquired or inherited vascular lesions of the central nervous system consisting of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke.
Abell, Amy N. +3 more
core +1 more source
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
PLoS ONE, 2014 ObjectiveTo study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.MethodsWe analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94
Rufino Mondéjar +9 more
doaj +1 more source
Diagnóstico molecular de cavernomatosis cerebral
Neurología, 2017 Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
doaj +1 more source