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
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Data in Brief, 2018 This article contains additional data related to the original research article entitled “KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: implication for Cerebral Cavernous ...
Cinzia Antognelli +8 more
doaj +1 more source
Small GTPase Rap1 Is Essential for Mouse Development and Formation of Functional Vasculature [PDF]
, 2015 BACKGROUND: Small GTPase Rap1 has been implicated in a number of basic cellular functions, including cell-cell and cell-matrix adhesion, proliferation and regulation of polarity.
Chrzanowska-Wodnicka, Magdalena +3 more
core +2 more sources
Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway
European Journal of Histochemistry, 2014 KRIT1 is an 84kDa protein that lacks any relevant catalytic domains, associated with the cerebral cavernous malformation disease. We have investigated by means of ultrastructural immunocytochemistry the nuclear distribution of KRIT1 in different cell ...
S. Marzo, V. Galimberti, M. Biggiogera
doaj +1 more source
Phospholipase Cε Modulates Rap1 Activity and the Endothelial Barrier. [PDF]
PLoS ONE, 2016 The phosphoinositide-specific phospholipase C, PLCε, is a unique signaling protein with known roles in regulating cardiac myocyte growth, astrocyte inflammatory signaling, and tumor formation. PLCε is also expressed in endothelial cells, however its role
Peter V DiStefano +2 more
doaj +1 more source
Interdisciplinary Neurosurgery, 2021 Background and Objectives: Cerebral cavernous malformation (CCM) is a neurovascular disease characterized by abnormally expanded and tortuous microvessels with increased predisposition to thrombosis and focal hemorrhage.
Autilia Tommasina Buonagura +8 more
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Disseminated cavernous malformations due to KRIT1 gene mutation causing seizure and spastic paraparesis [PDF]
Annals of Indian Academy of NeurologySaranya B Gomathy +3 more
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Intracerebral Hemorrhage and Ischemic Stroke of Different Etiologies Have Distinct Alternatively Spliced mRNA Profiles in the Blood: a Pilot RNA-seq Study. [PDF]
, 2015 Whole transcriptome studies have used 3'-biased expression microarrays to study genes regulated in the blood of stroke patients. However, alternatively spliced messenger RNA isoforms have not been investigated for ischemic stroke or intracerebral ...
Ander, Bradley P +8 more
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Mystery Case: Cutaneous lesions in KRIT1 -associated cerebral cavernous malformations [PDF]
Neurology, 2014 An asymptomatic 65-year-old man was seen because of a family history of cerebral cavernous malformations (CCM) and a positive test for the KRIT1 / CCM1 (7q21.2) gene mutation. MRI of the brain showed multiple CCM (figure 1). The patient was noted to have innumerable skin lesions over the face, trunk, and limbs (figure 2).
Wallace J, Brownlee, Richard, Roxburgh
openaire +2 more sources
Impaired retinoic acid signaling in cerebral cavernous malformations
Scientific Reports, 2023 The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff +9 more
doaj +1 more source