A5088333668- X-ray Diffraction in Crystallography
- Crystallization and Solubility Studies
- Superconducting Materials and Applications
- Particle accelerators and beam dynamics
- Bioinformatics and Genomic Networks
- Aquaculture disease management and microbiota
- Fusion materials and technologies
- Magnetic confinement fusion research
- Cardiomyopathy and Myosin Studies
- HVDC Systems and Fault Protection
- Cardiovascular Effects of Exercise
- Sports injuries and prevention
- Protein Tyrosine Phosphatases
- MicroRNA in disease regulation
- Aquaculture Nutrition and Growth
- RNA Research and Splicing
- Health and Lifestyle Studies
- Nuclear Receptors and Signaling
- Kruppel-like factors research
- Genomics and Phylogenetic Studies
- Cancer-related molecular mechanisms research
- Reproductive biology and impacts on aquatic species
- Ferroptosis and cancer prognosis
- Multilevel Inverters and Converters
- Gene expression and cancer classification
Universidad de Málaga
2019-2024
Biomedical Research and Innovation Institute of Cadiz
2023-2024
Instituto de Investigación de Enfermedades Raras
2024
Centre for Biomedical Network Research on Rare Diseases
2024
Instituto de Salud Carlos III
2024
Universidad de Cádiz
2023
Fusion for Energy
2011-2017
PMM2-CDG (MIM # 212065), the most common congenital disorder of glycosylation, is caused by deficiency phosphomannomutase 2 (PMM2). It a multisystemic disease variable severity that particularly affects nervous system; however, its molecular pathophysiology remains poorly understood. Currently, there no effective treatment. We performed an RNA-seq based transcriptomic study using patient-derived fibroblasts to gain insight into mechanisms underlying clinical symptomatology and identify...
Protein function prediction remains a key challenge. Domain composition affects protein function. Here we present DomFun, Ruby gem that uses associations between domains and functions, calculated using multiple indices based on tripartite network analysis. These domain-function are combined at the level, to generate protein-function predictions.
Abstract High-throughput gene expression analysis is widely used. However, not straightforward. Multiple approaches should be applied and methods to combine their results implemented investigated. We present methodology for the comprehensive of data, including co-expression module detection result integration via data-fusion, threshold based methods, a Naïve Bayes classifier trained on simulated data. Application rare-disease model datasets confirms existing knowledge related immune cell...
The ITER magnetic system includes 18 Toroidal Field (TF) Coils constructed using Nb <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">3</sub> Sn cable-in-conduit superconductor. Each TF coil comprises a Winding Pack (WP) composed of 7 Double Pancake (DP) modules stacked together, impregnated and inserted into stainless steel case. Fusion for Energy [the European Domestic Agency (DA)] is responsible the procurement ten while Japanese DA remaining...
The ITER magnetic system includes 18 Toroidal Field (TF) Coils using Nb3Sn cable-in-conduit superconductor. Each TF coil, about 300-t in weight, is made by a Winding Pack (WP) composed 7 Double Pancakes (DP) modules stacked together, impregnated and inserted stainless steel coil case. DP Radial Plate (RP), very large D-shaped plate with grooves machined on spiral path both sides, which the insulated conductor after heat treatment. procurement of coils will be carried out Fusion for Energy...
The European share of the ITER magnet superconductors includes supply around 20 km Toroidal Field and 7 Poloidal conductors. This represents 20% 11% total conductor amounts respectively needed for all (TF) (PF) coils. For TF conductor, 97 tons superconducting niobium tin strand 60 copper wire are to be purchased, cabled inserted within a stainless steel jacket tube form Cable-In-Conduit-Conductor (CICC). PF about 45 multifilamentary titanium need jacketed. Altogether, Fusion Energy (F4E)...
The ITER magnetic system includes 18 toroidal field (TF) coils constructed using a Nb3Sn cable-in-conduit superconductor. Each TF coil comprises winding pack (WP) composed of seven double pancake (DP) modules stacked together, impregnated, and inserted into stainless steel case. Ten are being produced in Europe, under the responsibility Fusion for Energy (F4E) (the European Domestic Agency), whereas remaining nine Japan. F4E has implemented procurement strategy aimed to minimize costs risks...
This paper reflects the status of manufacturing 2 Radial Plate prototypes for EU ITER TF Coils. The production these will supply valuable information total required number 70 Plates, in terms technologies, optimization cost, time and risks.
The superconducting magnet system of ITER consists four main sub-systems: Toroidal Field (TF) coils, Central Solenoid (CS) coils; Poloidal (PF) and Correction Coils (CC). Like many other systems, the components are supplied in-kind by six Domestic Agencies (DAs). technical specifications, manufacturing processes procedures required to fabricate these particularly challenging. management structure organization realize this procurement within tight construction schedule is very complex. Fusion...
The International Thermonuclear Experimental Reactor is an international scientific project with the aim of building a tokamak fusion reactor capable producing at least 10 times more energy than that spent to sustain reaction. In reaction magnetically confined and toroidal field coil system plays primary role in this confinement. Fusion for Energy, European Domestic Agency ITER, responsible supply out 19 coils. Their procurement has been subdivided three main work packages: production 70...
The International Thermonuclear Experimental Reactor (ITER) magnetic system includes 18 toroidal field (TF) coils constructed using Nb <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">3</sub> Sn cable-in-conduit superconductor. Each TF coil comprises a winding pack (WP) composed of seven double pancake modules stacked together, impregnated and inserted into stainless steel case. Ten are being produced in Europe, under the responsibility Fusion...
Abstract Senegalese sole is an economically important flatfish species in aquaculture and attractive model to decipher the molecular mechanisms governing severe transformations occurring during metamorphosis, where retinoic acid seems play a key role tissue remodeling. In this study, robust transcriptome was envisaged by reducing number of assembled libraries (27 out 111 available), fine-tuning new automated reproducible set workflows for de novo assembling based on several assemblers,...
Angiogenesis is essential for tumor growth and cancer metastasis. Identifying the molecular pathways involved in this process first step rational design of new therapeutic strategies to improve treatment. In recent years, RNA-seq data analysis has helped determine genetic factors associated with different types cancer. work we performed integrative using from human umbilical vein endothelial cells (HUVEC) patients angiogenesis-dependent diseases find genes that serve as potential candidates...
To investigate food allergy-tolerance mechanisms induced through allergen-specific immunotherapy we used RNA-Sequencing to measure gene expression in lymph-node-derived dendritic cells from Pru p 3-anaphylactic mice after with glycodendropeptides at 2 nM and 5 nM, leading permanent tolerance short-term desensitization, respectively. Gene was also measured receiving no (anaphylaxis); which anaphylaxis could never occur (antigen-only). Compared anaphylaxis, the antigen-only group showed...
Exhaustive and comprehensive analysis of pathological traits is essential to understanding genetic diseases, performing precise diagnosis prescribing personalized treatments. It particularly important for disease cohorts, as thoroughly detailed phenotypic profiles allow patients be compared contrasted. However, many cohorts contain that have been ascribed low numbers very general relatively uninformative phenotypes. We present Cohort Analyzer, a tool measures the phenotyping quality patient...
A principal part of the ITER fusion reactor is Toroidal Field magnet system which consists 18 “D” shaped coils. Fusion for Energy, (F4E), European Domestic Agency ITER, responsible procurement 10 such The completed coils, measuring approximately 14 m × 9 and weighing 300 tons, comprise an outer structural case into a “winding pack”, itself made up 7 conductor double pancake radial plate assemblies, inserted. winding packs will be largest ever built using Nb <sub...
Abstract A wide range of approaches can be used to detect micro RNA (miRNA)–target gene pairs (mTPs) from expression data, differing in the ways and miRNA profiles are calculated, combined correlated. However, there is no clear consensus on which best approach across all datasets. Here, we have implemented multiple strategies applied them three distinct rare disease datasets that comprise smallRNA-Seq RNA-Seq data obtained same samples, obtaining mTPs related pathology. All were preprocessed...
Arrhythmogenic cardiomyopathy is an inherited entity characterized by irregular cell-cell adhesion, cardiomyocyte death and fibro-fatty replacement of ventricular myocytes, leading to malignant arrythmias, contractile dysfunction sudden cardiac death. Pathogenic variants in genes that encode desmosome are the predominant cause arrhythmogenic cardiomyopathy. Moreover, signalling pathways such as Wnt/ß-catenin transforming growth factor-β have been involved disease progression. However, still...
Angiogenesis is regulated by multiple genes whose variants can lead to different disorders. Among them, rare diseases are a heterogeneous group of pathologies, most them genetic, information may be interest determine the still unknown genetic and molecular causes other diseases. In this work, we use on dependent angiogenesis investigate that associated with biological process if there interactions between involved in its deregulation.We propose systemic approach supported pathological...