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Novel genes and mutations in patients affected by recurrent pregnancy loss

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dc.creatorQuintero-Ronderos, Paula
dc.creatorMercier, Eric
dc.creatorFukuda, Michiko
dc.creatorGonzález, Ronald
dc.creatorSuarez Martinez, Carlos Fernando
dc.creatorAlfonso Patarroyo, Manuel
dc.creatorVaiman, Daniel
dc.creatorGris, Jean-Christophe
dc.creatorLaissue, Paul
dc.creator.googleQuintero-Ronderos, Paula
dc.creator.googleMercier, Eric
dc.creator.googleFukuda, Michiko
dc.creator.googleGonzález, Ronald
dc.creator.googleSuárez, Carlos Fernando
dc.creator.googleAlfonso Patarroyo, Manuel
dc.creator.googleVaiman, Daniel
dc.creator.googleGris, Jean-Christophe
dc.creator.googleLaissue, Paul
dc.date.accessioned2019-02-08T19:19:02Z
dc.date.available2019-02-08T19:19:02Z
dc.date.created2017
dc.date.issued2017-10-10
dc.description.abstractRecurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic factors may contribute towards the phenotype. Concerning its molecular aetiology numerous studies have had limited success in identifying the disease’s genetic causes. This might have been due to the fact that hundreds of genes are involved in each physiological step necessary for guaranteeing reproductive success in mammals. In such scenario, next generation sequencing provides a potentially interesting tool for research into recurrent pregnancy loss causative mutations. The present study involved whole-exome sequencing and an innovative bioinformatics analysis, for the first time, in 49 unrelated women affected by recurrent pregnancy loss. We identified 27 coding variants (22 genes) potentially related to the phenotype (41% of patients). The affected genes, which were enriched by potentially deleterious sequence variants, belonged to distinct molecular cascades playing key roles in implantation/pregnancy biology. Using a quantum chemical approach method we established that mutations in MMP-10 and FGA proteins led to substantial energetic modifications suggesting an impact on their functions and/or stability. The next generation sequencing and bioinformatics approaches presented here represent an efficient way to find mutations, having potentially moderate/strong functional effects, associated with recurrent pregnancy loss aetiology. We consider that some of these variants (and genes) represent probable future biomarkers for recurrent pregnancy loss. © 2017 Quintero-Ronderos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0186149
dc.identifier.issn1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/19029
dc.language.isoengspa
dc.relation.citationIssueNo. 10
dc.relation.citationTitlePLoS ONE
dc.relation.citationVolumeVol. 12
dc.relation.ispartofPLoS ONE, ISSN: 1932-6203, Vol. 12/No. 10 (2017)spa
dc.relation.urihttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0186149&type=printablespa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.cchttps://creativecommons.org/licenses/by/4.0/spa
dc.source.bibliographicCitationLarsen, E.C., Christiansen, O.B., Kolte, A.M., Macklon, N., New insights into mechanisms behind miscarriage (2013) BMC Med, 11, p. 154. , https://doi.org/10.1186/1741-7015-11-154, https://doi.org/10.1186/1741-7015-11-154 PMID: 23803387spa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subjectFibrinógenospa
dc.subjectSecundariospa
dc.subjectEstromelisina 2spa
dc.subjectHabitualspa
dc.subjectHumanospa
dc.subjectMolecularspa
dc.subjectFibrinógeno Alphacspa
dc.subjectProteína Mmp1spa
dc.subjectFragmento de péptidospa
dc.subjectGen Adams1spa
dc.subjectAmn genspa
dc.subjectBioinformáticaspa
dc.subjectGen Bmp7spa
dc.subjectCaucásicospa
dc.subjectGen Cdh1spa
dc.subjectGen Cdh11spa
dc.subjectArtículo Clínicospa
dc.subjectGen Col6A3spa
dc.subjectGen Cr1spa
dc.subjectModificación de ADNspa
dc.subjectGen Epas1spa
dc.subjectGen F5spa
dc.subjectGen Fgaspa
dc.subjectGen Fgfr2spa
dc.subjectGen Flt1spa
dc.subjectGenspa
dc.subjectFunción del genspa
dc.subjectMutación genéticaspa
dc.subjectSecuencia de genesspa
dc.subjectCódigo genéticospa
dc.subjectEstabilidad Genéticaspa
dc.subjectVariabilidad genéticaspa
dc.subjectVariación genéticaspa
dc.subjectGen Ido2spa
dc.subjectGen lifrspa
dc.subjectGen Mmp1spa
dc.subjectGen Mmp9spa
dc.subjectGen Ncoa1spa
dc.subjectSecuenciación de próxima generaciónspa
dc.subjectFenotipospa
dc.subjectAborto Recurrentespa
dc.subjectSecuenciación de Sangrespa
dc.subjectGen Thbdspa
dc.subjectGen Tlr3spa
dc.subjectGen Tncspa
dc.subjectGen Traf3Ip1spa
dc.subjectCreer genspa
dc.subjectSecuenciación del exoma completospa
dc.subjectAbortospa
dc.subjectBiologíaspa
dc.subjectQuímicaspa
dc.subjectExomaspa
dc.subjectLa expresión génicaspa
dc.subjectGenéticaspa
dc.subjectGenotipospa
dc.subjectSecuenciación de alto rendimientospa
dc.subjectMetabolismospa
dc.subjectModelo molecularspa
dc.subjectMutaciónspa
dc.subjectFisiopatologíaspa
dc.subjectEl embarazospa
dc.subjectDominio de proteínasspa
dc.subjectEstructura secundaria de proteínasspa
dc.subjectTeoría cuánticaspa
dc.subjectTermodinámicaspa
dc.subjectBiología Computacionalspa
dc.subjectSecuenciación de nucleótidos de alto rendimientospa
dc.subjectMatriz metaloproteinasa 1spa
dc.subjectModelosspa
dc.subjectFragmentos de péptidosspa
dc.subjectDominios y motivos de interacción de proteínasspa
dc.subjectEstructura de la proteínaspa
dc.subject.ddcEnfermedadesspa
dc.subject.keywordTro Genenor
dc.subject.keywordProtein Structureeng
dc.subject.keywordPeptide Fragmentseng
dc.subject.keywordProtein Interaction Domains And Motifseng
dc.subject.keywordMatrix Metalloproteinase 1eng
dc.subject.keywordHumanseng
dc.subject.keywordModelseng
dc.subject.keywordComputational Biologyeng
dc.subject.keywordHigh-Throughput Nucleotide Sequencingeng
dc.subject.keywordThermodynamicseng
dc.subject.keywordQuantum Theoryeng
dc.subject.keywordProtein Secondary Structureeng
dc.subject.keywordProtein Domaineng
dc.subject.keywordPregnancyeng
dc.subject.keywordPathophysiologyeng
dc.subject.keywordMutationeng
dc.subject.keywordMolecular Modeleng
dc.subject.keywordMetabolismeng
dc.subject.keywordHigh Throughput Sequencingeng
dc.subject.keywordGenotypeeng
dc.subject.keywordGeneticseng
dc.subject.keywordGene Expressioneng
dc.subject.keywordExomeeng
dc.subject.keywordChemistryeng
dc.subject.keywordBiologyeng
dc.subject.keywordAbortioneng
dc.subject.keywordWhole Exome Sequencingeng
dc.subject.keywordTraf3Ip1 Geneeng
dc.subject.keywordTlr3 Geneeng
dc.subject.keywordThbd Geneeng
dc.subject.keywordSanger Sequencingeng
dc.subject.keywordRecurrent Abortioneng
dc.subject.keywordPhenotypeeng
dc.subject.keywordNext Generation Sequencingeng
dc.subject.keywordNcoa1 Geneeng
dc.subject.keywordMmp1 Geneeng
dc.subject.keywordMmp9 Geneeng
dc.subject.keywordLifr Geneeng
dc.subject.keywordIdo2 Geneeng
dc.subject.keywordGenetic Variationeng
dc.subject.keywordGenetic Variabilityeng
dc.subject.keywordGenetic Codeeng
dc.subject.keywordGenetic Stabilityeng
dc.subject.keywordGene Sequenceeng
dc.subject.keywordGene Mutationeng
dc.subject.keywordGene Functioneng
dc.subject.keywordGeneeng
dc.subject.keywordFlt1 Geneeng
dc.subject.keywordFgfr2 Geneeng
dc.subject.keywordF5 Geneeng
dc.subject.keywordFga Geneeng
dc.subject.keywordDna Modificationeng
dc.subject.keywordEpas1 Geneeng
dc.subject.keywordCr1 Geneeng
dc.subject.keywordCol6A3 Geneeng
dc.subject.keywordClinical Articleeng
dc.subject.keywordCdh11 Geneeng
dc.subject.keywordCdh1 Geneeng
dc.subject.keywordCaucasianeng
dc.subject.keywordBmp7 Geneeng
dc.subject.keywordAmn Geneeng
dc.subject.keywordBioinformaticseng
dc.subject.keywordAdamts1 Geneeng
dc.subject.keywordPeptide Fragmenteng
dc.subject.keywordMmp1 Proteineng
dc.subject.keywordFibrinogen Alphaceng
dc.subject.keywordHumaneng
dc.subject.keywordStromelysin 2eng
dc.subject.keywordSecondaryeng
dc.subject.keywordFibrinogeneng
dc.subject.lembEnfermedades del aparato genitalspa
dc.subject.lembInfertilidadspa
dc.subject.lembReproducciónspa
dc.titleNovel genes and mutations in patients affected by recurrent pregnancy lossspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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