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FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia

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dc.creatorQuintero-Ronderos, Paulaspa
dc.creatorJiménez, Karen Marcelaspa
dc.creatorEsteban-Pérez, Claraspa
dc.creatorOjeda, Diego A.spa
dc.creatorBello, Sandraspa
dc.creatorFonseca Mendoza, Dora Janeth
dc.creatorCoronel, María Alejandraspa
dc.creatorMoreno-Ortiz, Haroldspa
dc.creatorSierra-Díaz, Diana Carolinaspa
dc.creatorLucena, Elkinspa
dc.creatorBarbaux, Sandrinespa
dc.creatorVaiman, Danielspa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-25T23:57:09Z
dc.date.available2020-05-25T23:57:09Z
dc.date.created2019spa
dc.description.abstractBackground: Human reproductive disorders consist of frequently occurring dysfunctions including a broad range of phenotypes affecting fertility and women's health during pregnancy. Several female-related diseases have been associated with hypofertility/infertility phenotypes, such as recurrent pregnancy loss (RPL). Other occurring diseases may be life-threatening for the mother and foetus, such as preeclampsia (PE) and intra-uterine growth restriction (IUGR). FOXD1 was defined as a major molecule involved in embryo implantation in mice and humans by regulating endometrial/placental genes. FOXD1 mutations in human species have been functionally linked to RPL's origin. Methods: FOXD1 gene mutation screening, in 158 patients affected by PE, IUGR, RPL and repeated implantation failure (RIF), by direct sequencing and bioinformatics analysis. Plasmid constructs including FOXD1 mutations were used to perform in vitro gene reporter assays. Results: Nine non-synonymous sequence variants were identified. Functional experiments revealed that p.His267Tyr and p.Arg57del led to disturbances of promoter transcriptional activity (C3 and PlGF genes). The FOXD1 p.Ala356Gly and p.Ile364Met deleterious mutations (previously found in RPL patients) have been identified in the present work in women suffering PE and IUGR. Conclusions: Our results argue in favour of FOXD1 mutations' central role in RPL, RIF, IUGR and PE pathogenesis via C3 and PlGF regulation and they describe, for the first time, a functional link between FOXD1 and implantation/placental diseases. FOXD1 could therefore be used in clinical environments as a molecular biomarker for these diseases in the near future. Recurrent pregnancy loss, Preeclampsia, Intra-uterine growth restriction, FOXD1. © 2019 The Author(s).eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1186/s10020-019-0104-3
dc.identifier.issn10761551
dc.identifier.issn15283658
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22618
dc.language.isoengspa
dc.publisherBioMed Central Ltd.spa
dc.relation.citationIssueNo. 1
dc.relation.citationTitleMolecular Medicine
dc.relation.citationVolumeVol. 25
dc.relation.ispartofMolecular Medicine, ISSN:10761551, 15283658, Vol.25, No.1 (2019)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85070550679&doi=10.1186%2fs10020-019-0104-3&partnerID=40&md5=9779d3bcf2292642d592dd8f10f550f5spa
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.keywordComplement component C3spa
dc.subject.keywordPlacental growth factorspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordC3 genespa
dc.subject.keywordColombianspa
dc.subject.keywordControlled studyspa
dc.subject.keywordFemalespa
dc.subject.keywordFOXD1 genespa
dc.subject.keywordFrenchmanspa
dc.subject.keywordGenespa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene identificationspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene sequencespa
dc.subject.keywordGenetic regulationspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordGenetic transcriptionspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenotypespa
dc.subject.keywordHumanspa
dc.subject.keywordIn vitro fertilizationspa
dc.subject.keywordIn vitro studyspa
dc.subject.keywordIntrauterine growth retardationspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordPathogenesisspa
dc.subject.keywordPlasmidspa
dc.subject.keywordPlgf genespa
dc.subject.keywordPreeclampsiaspa
dc.subject.keywordPregnancy disorderspa
dc.subject.keywordPriority journalspa
dc.subject.keywordReimplantationspa
dc.subject.keywordRepeated implantation failurespa
dc.subject.keywordSequence analysisspa
dc.titleFOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsiaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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