Results 41 to 50 of about 1,858 (192)
Spanish families with cavernous angiomas do not share the Hispano- American CCM1 haplotype [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1999 Cerebral cavernous malformations are vascular malformations mostly located in the CNS. Their frequency is estimated close to 0.5% in the general population.1 Cerebral cavernous malformations occur as a sporadic or hereditary condition. From the Hispano-American population, familial forms were reported with a high frequency.2 CCM1 , a hitherto ...
H H, Jung +9 more
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, 2011 Kavernome sind vaskuläre Neubildungen im zentralen Nervensystem, welche aus dilatierten, dünnwandigen, sinusoidalen Blutgefäßen bestehen. Histologisch zeigen sich nur anormal vorhandene oder gänzlich fehlende Tight Junctions der Endothelzellen und ...
Hansen, Bodil (138690723)
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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
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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
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A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
Frontiers in Neurology, 2020 Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
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Cells, 2021 Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo +2 more
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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
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Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]
, 2010 Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Michael B. Gorin +9 more
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, 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
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Ccm1is required for arterial morphogenesis: implications for the etiology of human cavernous malformations [PDF]
Development, 2004 Hemorrhagic stroke is a significant cause of morbidity and mortality in children, and is frequently associated with intracranial vascular malformations. One prevalent form of these vascular malformations, cerebral cavernous malformation, is characterized by thin-walled vascular cavities that hemorrhage and has been linked to loss-of-function mutations ...
Kevin J, Whitehead +4 more
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