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 ...
Jian Wu
exaly +5 more sources
Frontiers in Neurology, 2019 Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic
Loay Shoubash +2 more
exaly +6 more sources
A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family [PDF]
Frontiers in Neuroscience, 2021 Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms.
Lin Han
exaly +5 more sources
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance [PDF]
Frontiers in Neurology, 2018 Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the
Concetta Scimone +2 more
exaly +6 more sources
Dual recruitment of two CCM2 molecules to KRIT1 suppresses KLF4 expression [PDF]
Nature CommunicationsRegulated expression of Kruppel like factor (KLF) transcription factors is essential for normal maintenance of endothelial cells, but loss of either K-Rev interaction trapped 1 (KRIT1) or cerebral cavernous malformations 2 (CCM2) proteins results in ...
Clotilde Huet-Calderwood +5 more
doaj +4 more sources
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. [PDF]
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 +2 more sources
Integrative multi-omics analysis identifies key genes and colocalized signals associated with colorectal cancer risk [PDF]
BMC CancerBackground Colorectal cancer (CRC) affects approximately 1.9 million people globally each year. While CRC development involves complex genetic and environmental interactions, the underlying molecular mechanisms remain incompletely understood.
Lianheng Xia +6 more
doaj +2 more sources
Frontiers in Neurology, 2018 Familial cerebral cavernous malformations (CCMs) are autosomal dominant disorders characterized by hemorrhagic strokes, recurrent headache, epilepsy, and focal neurological deficits.
Kang Wang, Baorong Zhang, Guohua Zhao
exaly +3 more sources
Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations [PDF]
EMBO Molecular MedicineCerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Krüppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene
Van-Cuong Pham +23 more
doaj +2 more sources
Force-mediated recruitment and reprogramming of healthy endothelial cells drive vascular lesion growth [PDF]
Nature CommunicationsForce-driven cellular interactions are crucial for cancer cell invasion but remain underexplored in vascular abnormalities. Cerebral cavernous malformations (CCM), a vascular abnormality characterized by leaky vessels, involves CCM mutant cells ...
Apeksha Shapeti +11 more
doaj +2 more sources