Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]
, 2015 PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L +16 more
core +2 more sources
Interrogating the ccm-3 Gene Network
Cell Reports, 2018 Summary: Cerebral cavernous malformations (CCMs) are neurovascular lesions caused by mutations in one of three genes (CCM1–3). Loss of CCM3 causes the poorest prognosis, and little is known about how it regulates vascular integrity. The C.
Benjamin Lant +9 more
doaj +1 more source
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [PDF]
, 2016 When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited ...
Skytte, Anne-Bine +2 more
core +6 more sources
A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]
, 2018 OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K. +2 more
core +2 more sources
Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype [PDF]
The FEBS Journal, 2010 Cerebral cavernous malformations are common vascular lesions of the central nervous system that predispose to seizures, focal neurologic deficits and potentially fatal hemorrhagic stroke. Human genetic studies have identified three genes associated with the disease and biochemical studies of these proteins have identified interaction partners and ...
Aubrey C, Chan +3 more
openaire +2 more sources
Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution
eLife, 2020 Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage.
Fabrizio Orsenigo +13 more
doaj +1 more source
Role of pericytes in the development of cerebral cavernous malformations
iScience, 2022 Summary: Cerebral cavernous malformation (CCM) is caused by loss-of-function mutations in CCM1, CCM2, or CCM3 genes of endothelial cells. It is characterized by pericyte deficiency. However, the role of pericytes in CCMs is not yet clarified.
Zifeng Dai +15 more
doaj +1 more source
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients [PDF]
, 2017 [Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries
Delgado-Valverde, Mercedes +9 more
core +1 more source
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
Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman
Case Reports in Radiology, 2021 Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain.
Klenam Dzefi-Tettey +4 more
doaj +1 more source