KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease [PDF]
, 2018 KRIT1 (CCM1) is a disease gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease of proven genetic origin affecting 0.3â0.5% of the population.
Angelucci A3 +12 more
core +6 more sources
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
core +2 more sources
Variable expression of cerebral cavernous malformation in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]
, 2003 BACKGROUND: Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Costa Martins, Alzenira de Fátima +4 more
core +4 more sources
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 +2 more sources
Cardiovascular Diabetology, 2018 Background Antioxidant enzymes play a fundamental role in counteracting oxidative stress induced by high glucose. Although mitochondrial superoxide dismutase (SOD2) is the principal defence against the toxicity of superoxide anions, the mechanism of its ...
Lucia La Sala +4 more
doaj +1 more source
Structures of Ras superfamily effector complexes: What have we learnt in two decades? [PDF]
, 2015 The Ras superfamily small G proteins are master regulators of a diverse range of cellular processes and act via downstream effector molecules. The first structure of a small G protein-effector complex, that of Rap1A with c-Raf1, was published 20 years ...
Mott, Helen R, Owen, Darerca
core +1 more source
Frontiers in Surgery, 2016 Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski +2 more
doaj +1 more source
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. [PDF]
, 2018 BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain.
Al-Olabi, L +45 more
core +4 more sources
Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations [PDF]
, 2010 OBJECT: Cerebral cavernous malformations (CCMs) are among the most prevalent cerebrovascular malformations, and endothelial cells seem to play a major role in the disease.
Chappell PM +8 more
core +1 more source
Supernatants derived from chemotherapy-treated cancer cell lines can modify angiogenesis [PDF]
, 2012 BACKGROUND: There is evidence that tumours produce substances such as cytokines and microvesicular bodies bearing bioactive molecules, which support the carcinogenic process.
Bodman-Smith, M +8 more
core +1 more source