Search Results - "Sampedro, A."
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Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants
Published in The Journal of pathology (01-04-2024)“…Splicing is controlled by a large set of regulatory elements (SREs) including splicing enhancers and silencers, which are involved in exon recognition…”
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Predictive value of body composition and core symptoms in schizophrenia for cardiorespiratory fitness: CORTEX-SP study
Published in European psychiatry (01-06-2022)“…Introduction Cardiorespiratory fitness (CRF) can be directly measured and assessed by the cardiopulmonary exercise test (CPET) or estimated from different…”
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3
Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study
Published in Scientific reports (17-02-2020)“…Our aim was to determine the incidence of type 2 diabetes mellitus in a nation-wide population based cohort from Spain (di@bet.es study). The target was the…”
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Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants
Published in The Journal of pathology (01-09-2022)“…The ataxia telangiectasia‐mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss‐of‐function variants are associated with…”
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5
Changes in thyroid function with age: results from the Pizarra population-based longitudinal study
Published in International journal of clinical practice (Esher) (01-05-2015)“…Results of studies examining the influence of age on thyroid function and TSH levels, in the absence of thyroid disease, remain controversial. The aim of this…”
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6
Cost‐effectiveness analysis of dyevert™ Power XT in patients with chronic kidney disease undergoing percutaneous coronary intervention procedures in Spain
Published in Catheterization and cardiovascular interventions (01-08-2023)“…Objective To assess the efficiency of Dyevert™ Power XT compared to the standard clinical practice when used for percutaneous coronary interventions (PCI)…”
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Effect of Single Layer Centrifugation Porcicoll (70%, 80% and 90%) or supplementation with reduced glutathione, seminal plasma and bovine serum albumin on frozen-thawed boar sperm
Published in Animal reproduction science (01-12-2017)“…•Single Layer Centrifugation in frozen-thawed boar sperm.•Porcicoll 80% selected high-quality boar sperm population.•Boar seminal plasma after thawing induce…”
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Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study
Published in Scientific reports (12-08-2021)“…Our aim was to evaluate whether fatty liver index (FLI) is associated with the risk of type 2 diabetes (T2DM) development within the Spanish adult population…”
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Maximum adenoma diameter, regardless of uni- or bilaterality, is a risk factor for autonomous cortisol secretion in adrenal incidentalomas
Published in Journal of endocrinological investigation (01-11-2021)“…Purpose To evaluate differences between patients with unilateral and bilateral adrenal incidentalomas (AIs) in the prevalence of autonomous cortisol secretion…”
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Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin
Published in Biochimica et biophysica acta. Molecular basis of disease (01-07-2017)“…Deuteranopia is an X-linked congenital dichromatic condition in which single point mutations in green cone opsin lead to defective non-functional cone…”
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Comparing RNA extraction methods to face the variations in RNA quality using two human biological matrices
Published in Molecular biology reports (01-11-2023)“…Background Nucleic acids, RNA among them, are widely used in biomedicine and Biotechnology. Because of their susceptibility to degradation by RNases, the…”
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12
Human Blue Cone Opsin Regeneration Involves Secondary Retinal Binding with Analog Specificity
Published in Biophysical journal (27-03-2018)“…Human color vision is mediated by the red, green, and blue cone visual pigments. Cone opsins are G-protein-coupled receptors consisting of an opsin apoprotein…”
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Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis
Published in Infection and immunity (23-03-2020)“…Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and…”
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Long-term treatment with pegvisomant for acromegaly: a 10-year experience
Published in Clinical endocrinology (Oxford) (01-04-2016)“…Summary Background Efficacy of the GH‐receptor antagonist pegvisomant (PEG) has differed between preclinical and observational studies mainly due to dose…”
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COVID-19 Lockdown and Changes of the Dietary Pattern and Physical Activity Habits in a Cohort of Patients with Type 2 Diabetes Mellitus
Published in Nutrients (04-08-2020)“…The COVID-19 lockdown clearly affected the lifestyle of the population and entailed changes in their daily habits, which involved potential health…”
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Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution
Published in Scientific reports (11-02-2016)“…Visual rhodopsins are membrane proteins that function as light photoreceptors in the vertebrate retina. Specific amino acids have been positively selected in…”
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Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression
Published in Gene therapy (01-11-2015)“…Helper-dependent adenoviral (HDA) vectors constitute excellent gene therapy tools for metabolic liver diseases. We have previously shown that an HDA vector…”
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Seroprevalence of Leishmania infection among asymptomatic renal transplant recipients from southern Spain
Published in Transplant infectious disease (01-12-2015)“…Background The aim of this article is to assess the seroprevalence of Leishmania infection among asymptomatic renal transplant recipients in a population in…”
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Hypophysitis following Treatment with Ustekinumab: Radiological and Pathological Findings
Published in Frontiers in endocrinology (Lausanne) (09-03-2018)“…Ustekinumab is a human IgG1 monoclonal antibody that targets interleukin (IL)-12 and IL-23, which may be useful in the treatment of autoimmune conditions such…”
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Homing in on the specific phenotype(s) of central respiratory chemoreceptors
Published in Experimental physiology (01-05-2005)“…To some it may seem that we now know less about respiratory chemoreception than we did 20 years ago. Back then, it was widely accepted that the central…”
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