A5059598885- Asthma and respiratory diseases
- Pharmacogenetics and Drug Metabolism
- Respiratory and Cough-Related Research
- Allergic Rhinitis and Sensitization
- Hearing, Cochlea, Tinnitus, Genetics
- Pharmaceutical studies and practices
- Neonatal Respiratory Health Research
- Metabolomics and Mass Spectrometry Studies
- IL-33, ST2, and ILC Pathways
- Drug-Induced Adverse Reactions
- Immune Cell Function and Interaction
- Advanced Proteomics Techniques and Applications
- Nutrition, Genetics, and Disease
- Sinusitis and nasal conditions
- Genomics and Rare Diseases
- Diet and metabolism studies
- Yersinia bacterium, plague, ectoparasites research
- Chemotherapy-induced cardiotoxicity and mitigation
- Mast cells and histamine
- Cardiomyopathy and Myosin Studies
- Immunodeficiency and Autoimmune Disorders
- Dermatology and Skin Diseases
- Urticaria and Related Conditions
- T-cell and B-cell Immunology
- Estrogen and related hormone effects
Universidad de Salamanca
2016-2025
Complejo Hospitalario de Salamanca
2011-2025
Instituto de Investigación Biomédica de Salamanca
2016-2025
Instituto de Salud Carlos III
2018-2025
Instituto de Investigación de Enfermedades Raras
2025
Comunidad de Madrid
2024
Instituto de Investigación Biosanitaria de Granada
2018-2023
Centro de Investigación Biomédica en Red
2021
Centro de Investigación en Red en Enfermedades Cardiovasculares
2021
Hospital San Pedro de Alcántara
2018
Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become standard for etiological diagnosis of early-onset SNHL. However, accurate selection target genomic regions (gene panel/exome/genome), analytical performance and variant interpretation remain relevant difficulties its clinical implementation. We developed a novel NGS panel with 199 genes associated non-syndromic and/or syndromic evaluated sensitivity specificity...
Abstract Aims The aim of this study was to determine the frequency heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing independent cohorts family co-segregation studies. Methods results In a discovery cohort 770 index HCM, 12 (1.56%) were for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94–30.02, P = 8.05e−11] compared Genome Aggregation Database (gnomAD) population....
The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion cases. Formin homology 2 domain containing 3 (FHOD3) may have role the pathogenesis cardiac hypertrophy but has not been implicated cardiomyopathy. This study sought to investigate relation between FHOD3 mutations and development was sequenced by massive parallel sequencing 3,189 unrelated probands 2,777 patients with no evidence (disease control subjects). authors evaluated protein-altering...
Although there is no doubt about the influence of genetic background in onset allergic diseases, Epigenome-Wide Association Studies are needed to elucidate possible relationship between diseases and epigenomic dysregulation. In this study we aimed analyze epigenetic patterns, terms DNA methylation, three well-characterized populations house dust mite subjects, aspirin-intolerant asthmatics controls. As a first, genome-wide phase, used HELP assay methylation patterns CD19 (+) B lymphocytes...
The aim of this study was to provide a full characterization cohort 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).
IL4/IL4RA pathway plays an important role in atopy and asthma. Different polymorphisms IL4 IL4RA genes have been described. Particularly, -33C>TIL4 576Q>RIL4RA SNPs independently associated to The purpose of this study was analyse these a population patients with well-characterized asthma phenotype.A total 212 unrelated Caucasian individuals, 133 79 healthy subjects without symptoms or history negative skin prick tests were recruited. Lung function measured by spirometry specialist...
To cite this article: Isidoro-García M, Sanz C, García-Solaesa V, Pascual Pescador DB, Lorente F, Dávila I. PTGDR gene in asthma: a functional, genetic, and epigenetic study. Allergy 2011; 66: 1553–1562. Background: Asthma affects more than 300 million individuals the world. Several studies have demonstrated importance of genetic component. The aim study is to develop holistic approach, including epigenetic, expression analysis Prostaglandin D2 receptor (PTGDR) asthmatic patients. Methods:...
TSLP is an alarmin released upon activation of epithelia in response to various external stimuli and involved type 2 cytokine-mediated pathological disorders. The formation a high-affinity heterodimeric receptor complex, comprising the thymic stromal lymphopoietin (TSLPR) chain IL-7Rα, required for signaling. This study investigated whether TSLPR expression peripheral blood or nasal polyps could provide valuable approach molecular phenotyping patients with chronic rhinosinusitis (CRSwNP)....
Abstract Background An essential question in cancer is why individuals with the same disease have different clinical outcomes. Progress toward a more personalized medicine patients requires taking into account underlying heterogeneity at molecular levels. Results Here, we present model which there are complex interactions cellular and systemic levels that for of susceptibility to evolution ERBB2-positive breast cancers. Our based on our analyses cohort mice characterized by heterogeneous...
Antiretroviral treatment implies a high cost to the healthcare system. The aim of this study was evaluate clinical and economic impact efavirenz (EFV) dose adjustment by monitoring plasma concentrations pharmacogenetic analysis 516G>T CYP2B6 polymorphism.One hundred ninety HIV patients treated with EFV were studied. Plasma measured HPLC ultraviolet detection, performed Real Time (RT)-PCR.One initially standard (600 mg/day) In 31 (16.3%) patients, reduced. A total 87.1%...
Asthma and atopic dermatitis share several common features Cysteinyl‐leukotrienes are mediators that participate in the pathogenesis of both diseases. Recently, a new polymorphism (927T>C) has been identified cysteinyl‐leukotriene type‐1 receptor ( CYSLTR1 ) gene. This gene is found on X chromosome. The aim this study was to analyze SNP population children with asthma dermatitis. In study, 166 individuals, 79 adult controls (CTR) 87 (AA) were included. Forty‐one patients presented...
PTGDR gene has been identified as an asthma-susceptibility gene. Recently, functional genetic variants have associated with asthma. The objective of this work was to study -549T>C, -441C>T and -197T>C promoter polymorphisms in a Spanish population.In study, 197 Caucasian individuals were included. Asthma specialist-physician diagnosed according the American Thoracic Society (ATS) criteria classified following Global Initiative for (GINA) guidelines. Skin prick tests performed all patients....