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dc.contributor.author | Burillo-Sanz, Sergio | |
dc.contributor.author | Montes-Cano, Marco-Antonio | |
dc.contributor.author | Garcia-Lozano, Jose-Raul | |
dc.contributor.author | Ortiz-Fernandez, Lourdes | |
dc.contributor.author | Ortego-Centeno, Norberto | |
dc.contributor.author | Garcia-Hernandez, Francisco-Jose | |
dc.contributor.author | Espinosa, Gerard | |
dc.contributor.author | Grana-Gil, Genaro | |
dc.contributor.author | Sanchez-Burson, Juan | |
dc.contributor.author | Rosa Julia, Maria | |
dc.contributor.author | Solans, Roser | |
dc.contributor.author | Blanco, Ricardo | |
dc.contributor.author | Barnosi-Marin, Ana-Celia | |
dc.contributor.author | Gomez de la Torre, Ricardo | |
dc.contributor.author | Fanlo Mateo, Patricia | |
dc.contributor.author | Rodriguez-Carballeira, Monica | |
dc.contributor.author | Rodriguez-RodigGuez, Luis | |
dc.contributor.author | Camps, Teresa | |
dc.contributor.author | Castaneda, Santos | |
dc.contributor.author | Alegre-Sancho, Juan-Jose | |
dc.contributor.author | Martin, Javier | |
dc.contributor.author | Gonzalez-Escribano, Maria-Francisca | |
dc.date.accessioned | 2024-07-11T09:10:39Z | |
dc.date.available | 2024-07-11T09:10:39Z | |
dc.date.issued | 2017-08-16 | |
dc.identifier.citation | Burillo-Sanz S, Montes-Cano MA, Garcia-Lozano JR, Ortiz-Fernandez L, Ortego-Centeno N, Garcia-Hernandez FJ, et al. Mutational profile of rare variants in inflammasome-related genes in Behcet disease: A Next Generation Sequencing approach. Sci Rep. 2017 Aug 16;7:8453. | en |
dc.identifier.issn | 2045-2322 | |
dc.identifier.other | http://hdl.handle.net/20.500.13003/9703 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/20448 | |
dc.description.abstract | Behcet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(alpha) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(alpha) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD. | en |
dc.description.sponsorship | This work was supported by Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III (ISCIII, 13/01118 and PI16/01373), Fondos FEDER and Plan Andaluz de Investigacion (CTS-0197). SBS is the recipient of a fellowship (ISCIII, 13/01118). | es_ES |
dc.language.iso | eng | en |
dc.publisher | Nature Publishing Group | en |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject.mesh | Genetic Predisposition to Disease | * |
dc.subject.mesh | Behcet Syndrome | * |
dc.subject.mesh | Cytoskeletal Proteins | * |
dc.subject.mesh | Humans | * |
dc.subject.mesh | Inflammation | * |
dc.subject.mesh | Adaptor Proteins, Signal Transducing | * |
dc.subject.mesh | Adenosine Deaminase | * |
dc.subject.mesh | Receptors, Tumor Necrosis Factor, Type I | * |
dc.subject.mesh | Male | * |
dc.subject.mesh | NLR Family, Pyrin Domain-Containing 3 Protein | * |
dc.subject.mesh | Pyrin | * |
dc.subject.mesh | Mutation | * |
dc.subject.mesh | Nod2 Signaling Adaptor Protein | * |
dc.subject.mesh | Female | * |
dc.subject.mesh | High-Throughput Nucleotide Sequencing | * |
dc.subject.mesh | Phosphotransferases (Alcohol Group Acceptor) | * |
dc.subject.mesh | Inflammasomes | * |
dc.subject.mesh | Intercellular Signaling Peptides and Proteins | * |
dc.title | Mutational profile of rare variants in inflammasome-related genes in Behcet disease: A Next Generation Sequencing approach | en |
dc.type | research article | en |
dc.rights.license | Attribution 4.0 International | * |
dc.identifier.pubmedID | 28814775 | es_ES |
dc.format.volume | 7 | es_ES |
dc.format.page | 8453 | es_ES |
dc.identifier.doi | 10.1038/s41598-017-09164-7 | |
dc.relation.publisherversion | https://dx.doi.org/10.1038/s41598-017-09164-7 | en |
dc.identifier.journal | Scientific Reports | es_ES |
dc.rights.accessRights | open access | en |
dc.subject.decs | Fosfotransferasas (Aceptor de Grupo Alcohol) | * |
dc.subject.decs | Proteínas Adaptadoras Transductoras de Señales | * |
dc.subject.decs | Receptores Tipo I de Factores de Necrosis Tumoral | * |
dc.subject.decs | Predisposición Genética a la Enfermedad | * |
dc.subject.decs | Femenino | * |
dc.subject.decs | Mutación | * |
dc.subject.decs | Masculino | * |
dc.subject.decs | Inflamasomas | * |
dc.subject.decs | Adenosina Desaminasa | * |
dc.subject.decs | Humanos | * |
dc.subject.decs | Proteínas del Citoesqueleto | * |
dc.subject.decs | Inflamación | * |
dc.subject.decs | Secuenciación de Nucleótidos de Alto Rendimiento | * |
dc.subject.decs | Proteína con Dominio Pirina 3 de la Familia NLR | * |
dc.subject.decs | Síndrome de Behçet | * |
dc.subject.decs | Pirina | * |
dc.subject.decs | Péptidos y Proteínas de Señalización Intercelular | * |
dc.subject.decs | Proteína Adaptadora de Señalización NOD2 | * |
dc.identifier.scopus | 2-s2.0-85027530832 | |
dc.identifier.wos | 407677800007 | |
dc.identifier.pui | L626527262 |
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