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Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

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dc.creatorLaissue, Paul
dc.creatorLakha, Besma
dc.creatorVatin, Magalie
dc.creatorBatista, Frank
dc.creatorBurgio, Gaetan
dc.creatorMercier, Eric
dc.creatorDos Santos, Esther
dc.creatorBuffat, Christophe
dc.creatorSierra Diaz, Diana Carolina
dc.creatorRenault, Gilles
dc.creatorMontagutelli, Xavier
dc.creatorSalmon, Jane
dc.creatorMonget, Philippe
dc.creatorVeitia, Reiner
dc.creatorMeháts, Céline
dc.creatorFellous, Marc
dc.creatorGris, Jean-Christophe
dc.creatorCocquet, Julie
dc.creatorVaiman, Daniel
dc.creator.googleLaissue, P.spa
dc.creator.googleLakhal, B.spa
dc.creator.googleVatin, M.spa
dc.creator.googleBatista, F.spa
dc.creator.googleBurgio, G.spa
dc.creator.googleMercier, E.spa
dc.creator.googleSantos, E.D.spa
dc.creator.googleBuffat, C.spa
dc.creator.googleSierra-Diaz, D.C.spa
dc.creator.googleRenault, G.spa
dc.creator.googleMontagutelli, X.spa
dc.creator.googleSalmon, J.spa
dc.creator.googleMonget, P.spa
dc.creator.googleVeitia, R.A.spa
dc.creator.googleMéhats, C.spa
dc.creator.googleFellous, M.spa
dc.creator.googleGris, J.-C.spa
dc.creator.googleCocquet, J.spa
dc.creator.googleVaiman, D.spa
dc.date.accessioned2020-05-12T00:22:30Z
dc.date.available2020-05-12T00:22:30Z
dc.date.created2016-10-01
dc.date.issued2016
dc.description.abstractRecurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that reproductive phenotypes should be considered as quantitative traits resulting from the intricate interaction of numerous genetic, epigenetic and environmental factors. Here, we studied an interspecific recombinant congenic strain (IRCS) of Mus musculus from the C57BL6/J strain of mice harbouring an approximate 5 Mb DNA fragment from chromosome 13 from Mus spretus mice (66H-MMU13 strain), with a high rate of embryonic resorption (ER). Transcriptome analyses of endometrial and placental tissues from these mice showed a deregulation of many genes associated with the coagulation and inflammatory response pathways. Bioinformatics approaches led us to select Foxd1 as a candidate gene potentially related to ER and RSA. Sequencing analysis of Foxd1 in the 66H-MMU13 strain, and in 556 women affected by RSA and 271 controls revealed non-synonymous sequence variants. In vitro assays revealed that some led to perturbations in FOXD1 transactivation properties on promoters of genes having key roles during implantation/placentation, suggesting a role of this gene in mammalian implantation processes. © 2016 The Authors.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1098/rsob.160109
dc.identifier.issn2046-2441
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/21963
dc.language.isoengspa
dc.relation.citationIssueNo. 10
dc.relation.citationTitleOpen biology
dc.relation.citationVolumeVol. 6
dc.relation.ispartofOpen biology, ISSN: 2046-2441 Vol. 6, No. 10 (Septiembre 2016); 13 pp.spa
dc.relation.urihttps://royalsocietypublishing.org/doi/10.1098/rsob.160109spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.ddcEvolución & genéticaspa
dc.subject.ddcGinecología & otras especialidades médicasspa
dc.subject.keywordDevelopmental biologyspa
dc.subject.keywordGeneticsspa
dc.subject.keywordGenomicsspa
dc.subject.keywordFOXD1 proteinspa
dc.subject.keywordEmbryo deathspa
dc.subject.keywordRecurrent spontaneous abortionspa
dc.subject.keywordInterspecific recombinant congenic micespa
dc.subject.keywordDNA microarrayspa
dc.subject.keywordForkhead transcription factorspa
dc.subject.keywordChlorocebus aethiopsspa
dc.subject.keywordC57BL mousespa
dc.subject.keywordCV-1 cell linespa
dc.titleAssociation of FOXD1 variants with adverse pregnancy outcomes in mice and humansspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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