Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10662/20351
Registro completo de Metadatos
| Campo DC | Valor | idioma |
|---|---|---|
| dc.contributor.author | García Martín, Elena | - |
| dc.contributor.author | Sánchez Gómez, Francisco Javier | - |
| dc.contributor.author | Amo Marín, Gemma | - |
| dc.contributor.author | García Menaya, Jesús Miguel | - |
| dc.contributor.author | Cordobés Durán, Concepción | - |
| dc.contributor.author | Ayuso Parejo, Pedro | - |
| dc.contributor.author | Plaza Serón, María Carmen | - |
| dc.contributor.author | Blanca Gómez, Miguel | - |
| dc.contributor.author | Campo Mozo, Paloma | - |
| dc.contributor.author | Esguevillas Cansino, Gara | - |
| dc.contributor.author | Pajares Tarancón, María Ángeles | - |
| dc.contributor.author | García-Agúndez Pérez-Coca, José Augusto | - |
| dc.contributor.author | Pérez Sala, Dolores | - |
| dc.date.accessioned | 2024-02-07T13:11:38Z | - |
| dc.date.available | 2024-02-07T13:11:38Z | - |
| dc.date.issued | 2018 | - |
| dc.identifier.issn | 1098-1004 | - |
| dc.identifier.issn | 1059-7794 | - |
| dc.identifier.uri | http://hdl.handle.net/10662/20351 | - |
| dc.description.abstract | Asthmaandrhinitisaretwoofthemainclinicalmanifestationsofallergy,inwhichincreasedreac-tiveoxygenorelectrophilicspeciescanplayapathogenicrole.Aldosereductase(AKR1B1)isinvolvedinaldehydedetoxificationandredoxbalance.RecentevidencefromanimalmodelspointstoaroleofAKR1B1inasthmaandrhinitis,butitsinvolvementinhumanallergyhasnotbeenaddressed.Here,theputativeassociationofallergicrhinitisandasthmawithAKR1B1variantshasbeenexploredbyanalysisofsingle-strandvariantsontheAKR1B1genesequencein526healthysubjectsand515patientswithallergicrhinitis,366ofwhomalsohadasthma.Wefoundthatthers2229542variant,introducingthep.Lys90Glumutation,wassignificantlymorefrequentinaller-gicpatientsthaninhealthysubjects.Additionally,incellstransfectedwithexpressionvectorscar-ryingthewild-typeorthep.Lys90GluvariantofAKR1B1,themutantconsistentlyattainedlowerproteinlevelsthanthewild-typeandshowedacompromisedthermalstability.Takentogether,ourresultsshowthatthers2229542variantassociateswithasthmaandrhinitis,andhampersAKR1B1proteinlevelsandstability.Thisunveilsaconnectionbetweenthegeneticvariabilityofaldosereductaseandallergicprocesses. | es_ES |
| dc.format.extent | 11 | es_ES |
| dc.format.mimetype | application/pdf | en_US |
| dc.language.iso | eng | es_ES |
| dc.publisher | Wiley | es_ES |
| dc.subject | aldosereductase,allergy,asthma,proteinlevelsandstability,rhinitis,variant | es_ES |
| dc.title | Asthma and allergic rhinitis associate with the rs2229542 variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels | es_ES |
| dc.type | article | es_ES |
| dc.description.version | peerReviewed | es_ES |
| europeana.type | TEXT | en_US |
| dc.subject.unesco | 3207.01 Alergias | es_ES |
| dc.subject.unesco | 3209 Farmacología | es_ES |
| europeana.dataProvider | Universidad de Extremadura. España | es_ES |
| dc.identifier.bibliographicCitation | Human Mutation. 2018;39:1081–1091 | es_ES |
| dc.type.version | acceptedVersion | es_ES |
| dc.contributor.affiliation | Universidad de Extremadura. Departamento de Terapéutica Médico-Quirúrgica | es_ES |
| dc.relation.publisherversion | 10.1002/humu.23548 | es_ES |
| dc.identifier.publicationtitle | Human Mutation | es_ES |
| dc.identifier.publicationfirstpage | 1081 | es_ES |
| dc.identifier.publicationlastpage | 1091 | es_ES |
| dc.identifier.publicationvolume | 39 | es_ES |
| dc.identifier.orcid | 0000-0002-8094-046X | es_ES |
| dc.identifier.orcid | 0000-0002-9441-4022 | es_ES |
| Colección: | DTMQU - Artículos | |
Archivos
| Archivo | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| H2018 Human Mutation.pdf | 2,57 MB | Adobe PDF | Descargar |
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