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THBD sequence variants potentially related to recurrent pregnancy loss

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dc.creatorQuintero-Ronderos, Paulaspa
dc.creatorMercier, Ericspa
dc.creatorGris, Jean-Christophespa
dc.creatorEsteban-Perez, Claraspa
dc.creatorMoreno-Ortiz, Haroldspa
dc.creatorFonseca Mendoza, Dora Janeth
dc.creatorLucena, Elkinspa
dc.creatorVaiman, Danielspa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-25T23:58:44Z
dc.date.available2020-05-25T23:58:44Z
dc.date.created2017spa
dc.description.abstractRecurrent pregnancy loss (RPL) is a frequently occurring disease, which is classified as idiopathic in more than 50% of cases. THBD, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent RPL-related candidate gene. In the present study, we have sequenced the complete coding region of THBD in 262 patients affected by RPL. Bioinformatics analysis and screening of controls strongly suggested that the THBD-p.Trp153Gly mutation might be related to RPL aetiology. It could be used, after its validation by functional assays, as a molecular marker for diagnostic/prognostic purposes. © 2017 The Author(s).eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1186/s12958-017-0311-0
dc.identifier.issn14777827
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22921
dc.language.isoengspa
dc.publisherBioMed Central Ltd.spa
dc.relation.citationIssueNo. 1
dc.relation.citationTitleReproductive Biology and Endocrinology
dc.relation.citationVolumeVol. 15
dc.relation.ispartofReproductive Biology and Endocrinology, ISSN:14777827, Vol.15, No.1 (2017)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85036529556&doi=10.1186%2fs12958-017-0311-0&partnerID=40&md5=8fe121a42684028b01d8d4ad8ebbc63bspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordCaucasianspa
dc.subject.keywordControlled studyspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene sequencespa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMestizospa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordPregnancy disorderspa
dc.subject.keywordRecurrent pregnancy lossspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSpontaneous abortionspa
dc.subject.keywordThbd genespa
dc.subject.keywordBiologyspa
dc.subject.keywordCase control studyspa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGenetic databasespa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGenetic variationspa
dc.subject.keywordGeneticsspa
dc.subject.keywordPregnancyspa
dc.subject.keywordRecurrent abortionspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordThbd proteineng
dc.subject.keywordThrombomodulinspa
dc.subject.keywordAbortioneng
dc.subject.keywordAdultspa
dc.subject.keywordCase-control studiesspa
dc.subject.keywordComputational biologyspa
dc.subject.keywordDatabaseseng
dc.subject.keywordFemalespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGenetic variationspa
dc.subject.keywordHumansspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordPregnancyspa
dc.subject.keywordThrombomodulinspa
dc.subject.keywordFemale infertilityspa
dc.subject.keywordMolecular markerspa
dc.subject.keywordRecurrent pregnancy lossspa
dc.subject.keywordThbdspa
dc.titleTHBD sequence variants potentially related to recurrent pregnancy lossspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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