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Search Results: 1 - 10 of 237858 matches for " José Miguel de la Calle Restrepo "
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Abogacía de la competencia: La nueva tarea de la Superintendencia de Industria y Comercio
José Miguel de la Calle Restrepo
Contexto , 2012,
Abstract: La Abogacía de la Competencia es una de las formas de vigilar la libre competencia en los mercados. Esta función fue atribuida a la Superintendencia de Industria y Comercio, como autoridad nacional de competencia, y de ella se deriva una labor mancomunada con todas las autoridades que ejercen funciones de regulación con el fin de evitar la generación de efectos anticompetitivos en las regulaciones estatales.
Type 1 Diabetes in the Spanish Population: additional factors to Class II HLA-DR3 and -DR4
Elena Urcelay, José L Santiago, Hermenegildo de la Calle, Alfonso Martínez, Julián Méndez, José M Ibarra, Carlos Maluenda, Miguel Fernández-Arquero, Emilio G de la Concha
BMC Genomics , 2005, DOI: 10.1186/1471-2164-6-56
Abstract: Genetic MHC markers were analysed in a case-control study with 302 T1D patients and 529 ethnically matched controls. DR3-TNFa1b5 carrier rate was significantly higher in DR3-positive heterozygous T1D patients than in DR3-positive heterozygous controls (p = 0.0019; odds ratio OR [95% confidence interval CI] = 2.26 [1.3–3.93]). This data was confirmed analysing the allelic frequency, which includes the information corresponding to the DR3-homozygous individuals (p = 0.001; OR = 2.09) and by using the Arlequin software to check the DR3-positive haplotypes (p = 0.004;OR = 1.93). The present results provide strong evidence of a second susceptibility region in the ancestral haplotype 18.2 in the Spanish population.Moreover, we searched for T1D susceptibility factors in addition to the MHC classical ones, within the DR2-DQ6/DR3-DQ2/DR4-DQ8 negative population. Several genetic markers in both MHC class II (DQA1*0101-DQB1*0501 [p = 0.007;OR = 2.81], DQA1*0201-DQB1*0202 [p = 0.03; OR = 2.35]) and III (TNFa2b1 [p = 0.01 OR = 2.74], BAT-2*2 [p = 0.004; OR = 3.19]) were found. These different alleles associated with T1D were not independent and we observed linkage disequilibrium among them leading us to describe two new risk haplotypes (DQA1*0101-DQB1*0501-TNFa2b1 and DQA1*0201-DQB1*0202- BAT-2*2). Finally, we studied a T1D susceptibility/protection marker located in extended class I, D6S2223; however, no association was observed in our population.Our results suggest that other associated MHC haplotypes might present susceptibility factors in loci different from HLA-class II and that the class II molecules are not necessarily the universal etiologic factor in every MHC haplotype.Type 1 diabetes is a multifactorial autoimmune disease characterised by insulin deficiency, due to the T cell mediated destruction of pancreatic β-cells [1]. Among the genetic determinants of susceptibility, with more than 18 putative loci identified to date, a region in chromosome 6p21 (IDDM1) containin
A method for automatically extracting infectious disease-related primers and probes from the literature
Miguel García-Remesal, Alejandro Cuevas, Victoria López-Alonso, Guillermo López-Campos, Guillermo de la Calle, Diana de la Iglesia, David Pérez-Rey, José Crespo, Fernando Martín-Sánchez, Víctor Maojo
BMC Bioinformatics , 2010, DOI: 10.1186/1471-2105-11-410
Abstract: We tested our approach using a test set composed of 297 manuscripts. The extracted sequences and their organism/gene annotations were manually evaluated by a panel of molecular biologists. The results of the evaluation show that our approach is suitable for automatically extracting DNA sequences, achieving precision/recall rates of 97.98% and 95.77%, respectively. In addition, 76.66% of the detected sequences were correctly annotated with their organism name. The system also provided correct gene-related information for 46.18% of the sequences assigned a correct organism name.We believe that the proposed method can facilitate routine tasks for biomedical researchers using molecular methods to diagnose and prescribe different infectious diseases. In addition, the proposed method can be expanded to detect and extract other biological sequences from the literature. The extracted information can also be used to readily update available primer/probe databases or to create new databases from scratch.Molecular technologies are used in routine clinical practice to identify microorganisms, and evaluate the presence of virulence factors, antibiotic resistance determinants and host-microbe interactions [1]. For instance, numerous nucleic acid assays have been developed [2] using hybridization or DNA extension techniques that include a wide range of technologies, such as polymerase chain reaction (PCR) methods [3], gene and whole genome sequencing [4,5], Luminex [6] and microarray analysis [7].There is a wide range of technologies that provide specific short base sequences of DNA as probes — used to detect the complementary base sequence of interest—or as primers—that guide the DNA amplification process—used for different purposes. Primers and probes are the main components of nucleic acid-based detection systems and have been the subject of multiple studies. Therefore, different software programs have been developed to design these specific sequences of primers and probes mini
e-MIR2: a public online inventory of medical informatics resources
de la Calle Guillermo,García-Remesal Miguel,Nkumu-Mbomio Nelida,Kulikowski Casimir
BMC Medical Informatics and Decision Making , 2012, DOI: 10.1186/1472-6947-12-82
Abstract: Background Over the past years, the number of available informatics resources in medicine has grown exponentially. While specific inventories of such resources have already begun to be developed for Bioinformatics (BI), comparable inventories are as yet not available for the Medical Informatics (MI) field, so that locating and accessing them currently remains a difficult and time-consuming task. Description We have created a repository of MI resources from the scientific literature, providing free access to its contents through a web-based service. We define informatics resources as all those elements that constitute, serve to define or are used by informatics systems, ranging from architectures or development methodologies to terminologies, vocabularies, databases or tools. Relevant information describing the resources is automatically extracted from manuscripts published in top-ranked MI journals. We used a pattern matching approach to detect the resources’ names and their main features. Detected resources are classified according to three different criteria: functionality, resource type and domain. To facilitate these tasks, we have built three different classification schemas by following a novel approach based on folksonomies and social tagging. We adopted the terminology most frequently used by MI researchers in their publications to create the concepts and hierarchical relationships belonging to the classification schemas. The classification algorithm identifies the categories associated with resources and annotates them accordingly. The database is then populated with this data after manual curation and validation. Conclusions We have created an online repository of MI resources to assist researchers in locating and accessing the most suitable resources to perform specific tasks. The database contains 609 resources at the time of writing and is available at http://www.gib.fi.upm.es/eMIR2. We are continuing to expand the number of available resources by taking into account further publications as well as suggestions from users and resource developers.
BIRI: a new approach for automatically discovering and indexing available public bioinformatics resources from the literature
Guillermo de la Calle, Miguel García-Remesal, Stefano Chiesa, Diana de la Iglesia, Victor Maojo
BMC Bioinformatics , 2009, DOI: 10.1186/1471-2105-10-320
Abstract: We developed a web service to provide a set of high-level query primitives to access the index. The web service can be used by third-party web services or web-based applications. To test the web service, we created a pilot web application to access a preliminary knowledge base of resources. We tested our tool using an initial set of 400 abstracts. Almost 90% of the resources described in the abstracts were correctly classified. More than 500 descriptions of functionalities were extracted.These experiments suggest the feasibility of our approach for automatically discovering and indexing current and future bioinformatics resources. Given the domain-independent characteristics of this tool, it is currently being applied by the authors in other areas, such as medical nanoinformatics. BIRI is available at http://edelman.dia.fi.upm.es/biri/ webcite.The number of public online bioinformatics resources has grown exponentially over the past few years. Bioinformatics professionals can access and use a large number of resources for their research --including databases, tools and services. Discovering and accessing the appropriate bioinformatics resource for a specific research task has become increasingly important, as suggested in earlier reports [1].To address this issue, various significant projects and initiatives have been carried out, leading to several pioneering indexes of bioinformatics resources that are currently available over the Internet. For instance, BioPortal [2] is a web repository of biomedical ontology resources, developed at the National Center for Biomedical Ontology (NCBO) [3]. This application enables collaborative development of biomedical ontologies. BioPortal includes a service called Open Biomedical Resources (OBR) for annotating and indexing biomedical resources [4]. Resources are annotated using concepts from a domain ontology. The OBR service enables researchers to locate resources by specifying ontology concepts.Other examples of such indexes i
Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus
Evelyn N. Kouwenhoven equal contributor,Simon J. van Heeringen equal contributor,Juan J. Tena equal contributor,Martin Oti,Bas E. Dutilh,M. Eva Alonso,Elisa de la Calle-Mustienes,Leonie Smeenk,Tuula Rinne,Lilian Parsaulian,Emine Bolat,Rasa Jurgelenaite,Martijn A. Huynen,Alexander Hoischen,Joris A. Veltman,Han G. Brunner,Tony Roscioli,Emily Oates,Meredith Wilson,Miguel Manzanares,José Luis Gómez-Skarmeta,Hendrik G. Stunnenberg,Marion Lohrum,Hans van Bokhoven ,Huiqing Zhou
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1001065
Abstract: Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for other malformation disorders. We performed genome-wide DNA–binding profiling by chromatin immunoprecipitation (ChIP), followed by deep sequencing (ChIP–seq) in primary human keratinocytes, and identified potential target genes and regulatory elements controlled by p63. We show that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. A unique micro-deletion including this enhancer element, but not the DLX5/DLX6 genes, was identified in a patient with SHFM. Our study strongly indicates disruption of a non-coding cis-regulatory element located more than 250 kb from the DLX5/DLX6 genes as a novel disease mechanism in SHFM1. These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes.
Reviewing Self-Injuries Behavior in Macaques: The Role of Early Experience and Genetics in an Integrated Non-Human Model  [PDF]
Juan D. Molina, Mario de la Calle Real, Alfonso Ramos Ruiz, Francisco López-Mu?oz, Maria José Mu?oz Algar, Cristina Andrade-Rosa, Francisco Toledo-Romero
Journal of Behavioral and Brain Science (JBBS) , 2014, DOI: 10.4236/jbbs.2014.41005
Abstract: Genetic differences in non-human primates and the context where they were reared are important in the determination of their behaviors. Some studies suggest that Self-Injurious Behavior results from stress or anxiety, but some macaques appear to be more vulnerable to acquiring Self-Injurious Behavior. Vulnerability and risk for socially reared macaques of developing Self-Injurious Behavior increased when they experienced early adverse events and suffered from consequent stress. Stressful events can cause alterations in the neuroendocrine and neuropeptide systems associated with the regulation of stress and anxiety. Dysregulation in these systems contributes to the occurrence of anxious episodes that lead to
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
Jose Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M ángeles Figueredo, Emilio G de la Concha, Elena Urcelay
BMC Medical Genetics , 2006, DOI: 10.1186/1471-2350-7-54
Abstract: A case-control study was performed in the Spanish population with 295 T1D patients and 508 healthy control subjects. Maximum-likelihood haplotype frequencies were estimated by applying the Expectation-Maximization (EM) algorithm implemented by the Arlequin software.When independently analyzed, one of the tested polymorphisms in the SLC22A4 gene at 1672 showed significant association with T1D in our Spanish cohort. The overall comparison of the inferred haplotypes was significantly different between patients and controls (χ2 = 10.43; p = 0.034) with one of the haplotypes showing a protective effect for T1D (rs3792876/rs1050152/rs2631367/rs274559, CCGA: OR = 0.62 (0.41–0.93); p = 0.02).The haplotype distribution in the carnitine transporter locus seems to be significantly different between T1D patients and controls; however, additional studies in independent populations would allow to confirm the role of these genes in T1D risk.Type 1 diabetes (T1D) is a multifactorial autoimmune T-cell-mediated disease resulting from selective destruction of the insulin producing β cells in the pancreatic islets, leading to an absolute insulin deficiency. The risk of developing T1D is determined by a complex interaction between multiple genetic and environmental factors. Although susceptibility to disease is strongly associated with alleles in the major histocompatibility complex (MHC) [1,2], there are more than 20 putative T1D susceptibility regions identified by linkage and association studies [3,4]. At present, several non-MHC susceptibility loci with modest genetic effects have been clearly defined. However, it is well known that many non-MHC loci predisposing to T1D remain as yet undefined [5].Type 1 diabetes is a chronic degenerative disease, with altered metabolism characterized by hyperglycemia and ketoacidosis and T1D patients depend on exogenous insulin to sustain life. The role of the carnitine system in cell metabolism is mainly known in the mitochondria, where the intera
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
Jose Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M ángeles Figueredo, Emilio G de la Concha, Elena Urcelay
BMC Medical Genetics , 2007, DOI: 10.1186/1471-2350-8-54
Abstract: A case-control was performed with 316 Spanish white T1D patients consecutively recruited and 554 healthy controls, all of them from the Madrid area. The PTPN22 C1858T SNP was genotyped in both patients and controls using a TaqMan Assay in a 7900 HT Fast Real-Time PCR System.We replicated for the first time in a Spanish population the association of the 1858T allele with an increased risk for developing T1D [carriers of allele T vs. CC: OR (95%) = 1.73 (1.17–2.54); p = 0.004]. Furthermore, this allele showed a significant association in female patients with diabetes onset before age 16 years [carriers of allele T vs. CC: OR (95%) = 2.95 (1.45–6.01), female patients vs female controls p = 0.0009]. No other association in specific subgroups stratified for gender, HLA susceptibility or age at onset were observed.Our results provide evidence that the PTPN22 1858T allele is a T1D susceptibility factor also in the Spanish population and it might play a different role in susceptibility to T1D according to gender in early-onset T1D patients.Type 1 diabetes (T1D) is an autoimmune disorder resulting from destruction of the insulin-producing β cells of the pancreas. T1D is a complex trait with both genetic and environmental factors contributing to the etiology of this disease. Several susceptibility loci involved in disease development have been identified and were consistently replicated in independent populations [1]. These efforts contribute to a better definition of the molecular pathways leading to increased T1D risk and this knowledge, in turn, may help in understanding the genetic basis of the disease. The MHC class II, the CTLA4 and the PTPN22 loci have all been proved important in the pathogenesis of autoimmunity globally considered, whereas the insulin gene is a disease-specific T1D predisposition locus. Most of the new general susceptibility loci identified in the past few years have a clear role in the modulation of T cell development and activation, indicating that
Characterization of New Otic Enhancers of the Pou3f4 Gene Reveal Distinct Signaling Pathway Regulation and Spatio-Temporal Patterns
àlex Robert-Moreno,Silvia Naranjo,Elisa de la Calle-Mustienes,José Luis Gómez-Skarmeta,Berta Alsina
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0015907
Abstract: POU3F4 is a member of the POU-homedomain transcription factor family with a prominent role in inner ear development. Mutations in the human POU3F4 coding unit leads to X-linked deafness type 3 (DFN3), characterized by conductive hearing loss and progressive sensorineural deafness. Microdeletions found 1 Mb 5′ upstream of the coding region also displayed the same phenotype, suggesting that cis-regulatory elements might be present in that region. Indeed, we and others have recently identified several enhancers at the 1 Mb 5′ upstream interval of the pou3f4 locus. Here we characterize the spatio-temporal patterns of these regulatory elements in zebrafish transgenic lines. We show that the most distal enhancer (HCNR 81675) is activated earlier and drives GFP reporter expression initially to a broad ear domain to progressively restrict to the sensory patches. The proximal enhancer (HCNR 82478) is switched later during development and promotes expression, among in other tissues, in sensory patches from its onset. The third enhancer (HCNR 81728) is also active at later stages in the otic mesenchyme and in the otic epithelium. We also characterize the signaling pathways regulating these enhancers. While HCNR 81675 is regulated by very early signals of retinoic acid, HCNR 82478 is regulated by Fgf activity at a later stage and the HCNR 81728 enhancer is under the control of Hh signaling. Finally, we show that Sox2 and Pax2 transcription factors are bound to HCNR 81675 genomic region during otic development and specific mutations to these transcription factor binding sites abrogates HCNR 81675 enhancer activity. Altogether, our results suggest that pou3f4 expression in inner ear might be under the control of distinct regulatory elements that fine-tune the spatio-temporal activity of this gene and provides novel data on the signaling mechanisms controlling pou3f4 function.
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