dc.creatorQuintero-Ronderos, Paula 
dc.creatorMercier, Eric 
dc.creatorFukuda, Michiko 
dc.creatorGonzález, Ronald 
dc.creatorSuárez, Carlos Fernando 
dc.creatorAlfonso Patarroyo, Manuel 
dc.creatorVaiman, Daniel 
dc.creatorGris, Jean-Christophe 
dc.creatorLaissue, Paul 
dc.date.accessioned2019-02-08T19:19:02Z
dc.date.available2019-02-08T19:19:02Z
dc.date.created2017
dc.identifier.issnISSN 1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/19029
dc.descriptionRecurrent 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.
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofPLoS ONE, ISSN: 1932-6203, Vol. 12/No. 10 (2017)
dc.relation.urihttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0186149&type=printable
dc.rights.uri
dc.subjectFibrinogen
dc.subjectStromelysin 2
dc.subjectFibrinogen
dc.subjectFibrinogen Alphac
dc.subjectMmp1 Protein, Human
dc.subjectPeptide Fragment
dc.subjectStromelysin 2
dc.subjectAdamts1 Gene
dc.subjectAdult
dc.subjectAmn Gene
dc.subjectArticle
dc.subjectBioinformatics
dc.subjectBmp7 Gene
dc.subjectCaucasian
dc.subjectCdh1 Gene
dc.subjectCdh11 Gene
dc.subjectClinical Article
dc.subjectCol6A3 Gene
dc.subjectCr1 Gene
dc.subjectDna Modification
dc.subjectEpas1 Gene
dc.subjectF5 Gene
dc.subjectFemale
dc.subjectFga Gene
dc.subjectFgfr2 Gene
dc.subjectFlt1 Gene
dc.subjectGene
dc.subjectGene Function
dc.subjectGene Mutation
dc.subjectGene Sequence
dc.subjectGenetic Code
dc.subjectGenetic Stability
dc.subjectGenetic Variability
dc.subjectGenetic Variation
dc.subjectHuman
dc.subjectIdo2 Gene
dc.subjectLifr Gene
dc.subjectMmp1 Gene
dc.subjectMmp9 Gene
dc.subjectNcoa1 Gene
dc.subjectNext Generation Sequencing
dc.subjectPhenotype
dc.subjectRecurrent Abortion
dc.subjectSanger Sequencing
dc.subjectThbd Gene
dc.subjectTlr3 Gene
dc.subjectTnc Gene
dc.subjectTraf3Ip1 Gene
dc.subjectTro Gene
dc.subjectWhole Exome Sequencing
dc.subjectAbortion, Habitual
dc.subjectBiology
dc.subjectChemistry
dc.subjectExome
dc.subjectGene Expression
dc.subjectGenetics
dc.subjectGenotype
dc.subjectHigh Throughput Sequencing
dc.subjectMetabolism
dc.subjectMolecular Model
dc.subjectMutation
dc.subjectPathophysiology
dc.subjectPregnancy
dc.subjectProtein Domain
dc.subjectProtein Secondary Structure
dc.subjectQuantum Theory
dc.subjectThermodynamics
dc.subjectAbortion, Habitual
dc.subjectAdult
dc.subjectComputational Biology
dc.subjectExome
dc.subjectFemale
dc.subjectFibrinogen
dc.subjectGene Expression
dc.subjectGenotype
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectMatrix Metalloproteinase 1
dc.subjectModels, Molecular
dc.subjectMutation
dc.subjectPeptide Fragments
dc.subjectPhenotype
dc.subjectPregnancy
dc.subjectProtein Interaction Domains And Motifs
dc.subjectProtein Structure, Secondary
dc.subjectQuantum Theory
dc.subjectThermodynamics
dc.subject.ddc616.65
dc.subject.lembEnfermedades del aparato genital
dc.subject.lembInfertilidad
dc.subject.lembReproducción
dc.titleNovel genes and mutations in patients affected by recurrent pregnancy loss
dc.typearticle
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
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: 23803387
dc.rights.cchttps://creativecommons.org/licenses/by/4.0/
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


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