Browsing by Author "Fernández-Cadenas, Israel"

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  • A polygenic risk score based on a cardioembolic stroke multitrait analysis improves a clinical prediction model for this stroke subtype
    Cárcel-Márquez, Jara; Jiménez Conde, Jordi; Roquer, Jaume; Fernández-Cadenas, Israel (Frontiers, 2022)
    Background: occult atrial fibrillation (AF) is one of the major causes of embolic stroke of undetermined source (ESUS). Knowing the underlying etiology of an ESUS will reduce stroke recurrence and/or unnecessary use of ...
  • Altered methylation pattern in EXOC4 is associated with stroke outcome: an epigenome-wide association study
    Cullell, Natalia; Soriano Tarraga, Carolina; Gallego-Fabrega, Cristina; Cárcel-Márquez, Jara; Muiño, Elena; Llucià-Carol, Laia; Lledós, Miquel; Esteller, Manel; Castro de Moura, Manuel; Montaner, Joan; Rosell, Anna; Delgado, Pilar; Martí-Fàbregas, Joan; Krupinski, Jerzy; Roquer, Jaume; Jiménez Conde, Jordi; Fernández-Cadenas, Israel (BioMed Central, 2022)
    Background and purpose: the neurological course after stroke is highly variable and is determined by demographic, clinical and genetic factors. However, other heritable factors such as epigenetic DNA methylation could play ...
  • Biological Age is a predictor of mortality in Ischemic Stroke
    Soriano Tarraga, Carolina; Giralt-Steinhauer, Eva; Mola Caminal, Marina; Ois Santiago, Angel Javier; Rodríguez-Campello, Ana; Cuadrado-Godia, Elisa; Fernández-Cadenas, Israel; Cullell, Natalia; Roquer, Jaume; Jiménez Conde, Jordi (Nature Research, 2018)
    Age and stroke severity are the main mortality predictors after ischemic stroke. However, chronological age and biological age are not exactly concordant. Age-related changes in DNA methylation in multiple CpG sites across ...
  • DNA methylation of MMPs and TIMPs in atherothrombosis process in carotid plaques and blood tissues
    Gallego-Fabrega, Cristina; Cullell, Natalia; Soriano Tarraga, Carolina; Carrera, Caty; Torres-Aguila, Nuria P.; Muiño, Elena; Cárcel-Márquez, Jara; Castro de Moura, Manuel; Fernández Sanlés, Alba, 1988-; Esteller, Manel; Elosua Llanos, Roberto; Jiménez Conde, Jordi; Roquer, Jaume; Montaner, Joan; Krupinski, Jerzy; Fernández-Cadenas, Israel (Impact Journals, 2020)
    Background and purpose: Polymorphisms and serum levels of Matrix Metalloproteinases (MMP) and Tissue Inhibitor of Metalloproteinases (TIMP) have been studied with regard to atheromatous plaques and ischemic stroke, while ...
  • Genome-wide association meta-analysis of functional outcome after ischemic stroke
    Söderholm, Martin; Fernández-Cadenas, Israel; Jiménez Conde, Jordi; Jern, Christina; International Stroke Genetics Consortium; Genetics of Ischaemic Stroke Functional Outcome (GISCOME) Network (Wolters Kluwer (LWW), 2019)
    Objective: To discover common genetic variants associated with poststroke outcomes using a genome-wide association (GWA) study. Methods: The study comprised 6,165 patients with ischemic stroke from 12 studies in Europe, ...
  • Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
    Muiño, Elena; Rodríguez-Campello, Ana; Romeral, Gemma; Roquer, Jaume; Fernández-Cadenas, Israel (Nature Research, 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 misfolding and aggregation. The main symptoms are migraine, psychiatric ...
  • International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery
    Lindgren, Arne G.; Jiménez Conde, Jordi; Fernández-Cadenas, Israel; International Stroke Genetics Consortium (SAGE Publications, 2022)
    Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke ...
  • Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
    Muiño, Elena; Gallego-Fabrega, Cristina; Cullell, Natalia; Carrera, Caty; Torres, Nuria; Krupinski, Jurek; Roquer, Jaume; Montaner, Joan; Fernández-Cadenas, Israel (MDPI, 2017)
    CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, ...
  • Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA
    Carrera, Caty; Giralt-Steinhauer, Eva; Jiménez Conde, Jordi; Roquer, Jaume; Fernández-Cadenas, Israel; Spanish Stroke Genetic Consortium (Lippincott Williams & Wilkins, 2019)
    Objective: To validate the Genot-PA score, a clinical-genetic logistic regression score that stratifies the thrombolytic therapy safety, in a new cohort of patients with stroke. Methods: We enrolled 1,482 recombinant tissue ...

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