Search Results - "Israel Fernandez-Cadenas"
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Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
Published in The Journal of clinical investigation (01-12-2021)“…BACKGROUND. There is considerable variability in COVID-19 outcomes among younger adults, and some of this variation may be due to genetic predisposition…”
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Contribution of “Omic” Studies to the Understanding of Cadasil. A Systematic Review
Published in International journal of molecular sciences (08-07-2021)“…CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a small vessel disease caused by mutations in NOTCH3…”
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Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
Published in International journal of molecular sciences (13-09-2017)“…CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the gene, affecting the number…”
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Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage
Published in Annals of neurology (01-07-2020)“…Objective Observational studies point to an inverse correlation between low‐density lipoprotein (LDL) cholesterol levels and risk of intracerebral hemorrhage…”
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Biological age is better than chronological as predictor of 3-month outcome in ischemic stroke
Published in Neurology (22-08-2017)“…OBJECTIVE:To analyze the effect of age-related DNA methylation changes in multiple cytosine-phosphate-guanine (CpG) sites (biological age [b-age]) on patient…”
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Variants at APOE influence risk of deep and lobar intracerebral hemorrhage
Published in Annals of neurology (01-12-2010)“…Objective Prior studies investigating the association between APOE alleles ε2/ε4 and risk of intracerebral hemorrhage (ICH) have been inconsistent and limited…”
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Genome-Wide Studies in Ischaemic Stroke: Are Genetics Only Useful for Finding Genes?
Published in International journal of molecular sciences (20-06-2022)“…Ischaemic stroke is a complex disease with some degree of heritability. This means that heritability factors, such as genetics, could be risk factors for…”
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ICA1L Is Associated with Small Vessel Disease: A Proteome-Wide Association Study in Small Vessel Stroke and Intracerebral Haemorrhage
Published in International journal of molecular sciences (15-03-2022)“…Small vessel strokes (SVS) and intracerebral haemorrhages (ICH) are acute outcomes of cerebral small vessel disease (SVD). Genetic studies combining both…”
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Tissue plasminogen activator (t-PA) promotes neutrophil degranulation and MMP-9 release
Published in Journal of leukocyte biology (01-07-2008)“…Recombinant tissue plasminogen activator (t‐PA), the only approved stroke treatment, is used for clot lysis within the occluded brain artery. Unfortunately,…”
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Identification of 20 novel loci associated with ischaemic stroke. Epigenome-wide association study
Published in Epigenetics (01-09-2020)“…DNA methylation is dynamic, varies throughout the life course, and its levels are influenced by lifestyle and environmental factors, as well as by genetic…”
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DNA methylation analyses identify an intronic ZDHHC6 locus associated with time to recurrent stroke in the Vitamin Intervention for Stroke Prevention (VISP) clinical trial
Published in PloS one (12-07-2021)“…Aberrant DNA methylation profiles have been implicated in numerous cardiovascular diseases; however, few studies have investigated how these epigenetic…”
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Leveraging Genetic Data to Elucidate the Relationship Between COVID-19 and Ischemic Stroke
Published in Journal of the American Heart Association (16-11-2021)“…Background The relationship between COVID-19 and ischemic stroke is poorly understood due to potential unmeasured confounding and reverse causation. We aimed…”
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Genetic Architecture of Ischaemic Strokes after COVID-19 Shows Similarities with Large Vessel Strokes
Published in International journal of molecular sciences (30-08-2023)“…We aimed to analyse whether patients with ischaemic stroke (IS) occurring within eight days after the onset of COVID-19 (IS-COV) are associated with a specific…”
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Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
Published in Scientific reports (25-03-2021)“…CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein…”
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Global DNA methylation of ischemic stroke subtypes
Published in PloS one (01-04-2014)“…Ischemic stroke (IS), a heterogeneous multifactorial disorder, is among the leading causes of mortality and long-term disability in the western world…”
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
Published in Brain (London, England : 1878) (01-05-2013)“…In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but…”
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Brain perihematoma genomic profile following spontaneous human intracerebral hemorrhage
Published in PloS one (02-02-2011)“…Spontaneous intracerebral hemorrhage (ICH) represents about 15% of all strokes and is associated with high mortality rates. Our aim was to identify the gene…”
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DNA methylation and stroke prognosis: an epigenome-wide association study
Published in Clinical epigenetics (06-06-2024)“…Stroke is the leading cause of adult-onset disability. Although clinical factors influence stroke outcome, there is a significant variability among individuals…”
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Progression of Symptomatic Intracranial Large Artery Atherosclerosis Is Associated With a Proinflammatory State and Impaired Fibrinolysis
Published in Stroke (1970) (01-05-2008)“…The molecular pathways involved in the progression of intracranial large artery atherosclerosis (ILA) are largely unknown. Our objective was to prospectively…”
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Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis
Published in Cell death discovery (17-02-2024)“…Through GWAS studies we identified PATJ associated with functional outcome after ischemic stroke (IS). The aim of this study was to determine PATJ role in…”
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