A5058095586- Asthma and respiratory diseases
- Pharmacogenetics and Drug Metabolism
- Estrogen and related hormone effects
- Cardiac Arrhythmias and Treatments
- Pharmaceutical studies and practices
- Cardiomyopathy and Myosin Studies
- Schizophrenia research and treatment
- Pharmacological Effects and Assays
- Allergic Rhinitis and Sensitization
- Retinoids in leukemia and cellular processes
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- bioluminescence and chemiluminescence research
- Genomic variations and chromosomal abnormalities
- Williams Syndrome Research
- PI3K/AKT/mTOR signaling in cancer
- Diet and metabolism studies
- Genetic Syndromes and Imprinting
- Genetic Neurodegenerative Diseases
- NF-κB Signaling Pathways
- Cardiac electrophysiology and arrhythmias
- Statistical Methods in Clinical Trials
- Neonatal Respiratory Health Research
- Innovative Microfluidic and Catalytic Techniques Innovation
- Immunotherapy and Immune Responses
Instituto de Investigación Biomédica de Salamanca
2016-2024
Universidad de Salamanca
2016-2024
Complejo Hospitalario de Salamanca
2018-2023
Instituto de Salud Carlos III
2019
The aim of this study was to provide a full characterization cohort 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).
Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by weakness and intellectual disability. Methods A clinical histopathological characterisation 25 Roma individuals with R18 caused the homozygous TRAPPC11 c.1287+5G>A variant reported. Functional effects on mitochondrial function were investigated. Results The leads to phenotype early onset...
Antipsychotics are the keystone of treatment severe and prolonged mental disorders. However, there many risks associated with these drugs not all patients undergo full therapeutic profit from them. The application 5 Step Precision Medicine model(5SPM), based on analysis pharmacogenetic profile each patient, could be a helpful tool to solve problematics traditionally neuroleptic treatment. In order this question, cohort psychotic that showed poor clinical evolution was analyzed. After...
Schizophrenia is a severe mental disorder that often manifests within the first three decades of life. Its prognosis uncertain and may result in prolonged treatment could extend throughout entire lifespan patient. Antipsychotic drugs are characterized by high interindividual variability when considering therapeutic effect emergence adverse effects. Such thought to be associated primarily with pharmacokinetic matters.
BackgroundSmall non-coding RNAs (snRNAs) develop important functions related to epigenetic regulation. YRNAs are snRNAs involved in the initiation of DNA replication and RNA stability that regulate gene expression. They have been autoimmune, cancer inflammatory diseases but never before allergy. In this work we described for first time allergic patients differential expression profile YRNAs, their regulatory mechanisms potential as new diagnostic therapeutic targets.MethodsFrom a previous...
Vitamin A has been linked to the development of allergic diseases although its role is not fully understood, Retinoic acid (RA), a metabolite A, previously associated with prostaglandin pathway, and PTGDR, receptor PGD2, proposed as candidate gene in allergy asthma. Considering PTGDR allergy, goal this study was analyze effect RA on activation promoter region gene.A549 lung epithelial cells were transfected 4 combinations genetic variants stimulated all-trans (ATRA); luciferase assays...
Background: Some recent familial studies have described a pattern of autosomal dominant inheritance for increased basal serum tryptase (BST), but no correlation with mRNA expression and gene dose been reported. Objective: We analyzed TPSAB1 in four-member family high BST two control subjects. Methods: Blood samples were collected from the Complete morphologic, immunophenotypical, molecular bone marrow mast cell (MC) performed. performed LightCycler 480 instrument . Genotype CNV by...
Precision medicine applied to psychiatry provides new insight into the promising field of precision psychiatry. Psychotic disorders are heterogeneous, complex, chronic, and severe mental disorders. Not only does prognosis course disease vary among patients suffering from psychotic disorders, but treatment response varies as well. Although antipsychotic drugs cornerstone schizophrenia, many partially respond these drugs. Furthermore, often experience adverse events which can lead poor...
Functional studies suggest that promoter polymorphisms of the Prostaglandin D Receptor (PTGDR) gene can be involved in asthma. All-trans Retinoic acid (ATRA) has also been linked to allergic diseases. We have previously described PTGDR activation mediated by ATRA through response elements (RARE) at position -549T> C. In this study we aimed analyze effect retinoic (RA) on expression PTGDR, production cytokines as well evaluate binding RA receptors RA-Response Elements sequences. A549 cells...
Develop a clinical and genetic characterization, in group of small-for-gestational-age (SGA) patients who did not experience catch-up growth
One of the most critical goals in healthcare is safe and effective drug therapy, which directly related to an individual’s response treatment. Precision medicine can improve safety many scenarios, including polypharmacy, it requires development new genetic characterization methods. In this report, we use real-time PCR, microarray techniques, mass spectrometry (MALDI-TOF), allows us compare them identify potential benefits technological improvements, leading better quality medical care. These...
Precision medicine utilizing the genetic information of genes involved in metabolism and disposition drugs can not only improve drug efficacy but also prevent or minimize adverse events. Polypharmacy is common among multimorbid patients associated with increased One main objectives health care safe efficacious therapy, which directly correlated to individual response treatment. increase safety many scenarios, including polypharmacy. In this report, we share our experience precision over past...
Asthma is a multifactorial pathology influenced by environmental and genetic factors. Glucocorticoid treatment decreases symptoms regulating genes involved in the inflammatory process through binding to specific DNA sequences. Polymorphisms located promoter region of Prostaglandin D Receptor (PTGDR) gene have been related asthma. We aimed analyze effect PTGDR haplotypes on expression response corticosteroid therapy. A549 lung epithelial cells were transfected with vectors carrying four...