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The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

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dc.creatorLaissue P.spa
dc.date.accessioned2020-05-25T23:57:06Z
dc.date.available2020-05-25T23:57:06Z
dc.date.created2018spa
dc.description.abstractPrimary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI. The main genes participating in bipotential gonad formation, sex determination, meiosis, folliculogenesis and ovulation are described to enable understanding how they may be considered putative candidates involved in POI. Considerations regarding NGS technical aspects such as design and data interpretation are mentioned. Successful NGS initiatives used for POI studying and future challenges are also discussed. © 2017 Elsevier B.V.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.mce.2017.07.021
dc.identifier.issn3037207
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22605
dc.language.isoengspa
dc.publisherElsevier Ireland Ltdspa
dc.relation.citationEndPage180
dc.relation.citationStartPage170
dc.relation.citationTitleMolecular and Cellular Endocrinology
dc.relation.citationVolumeVol. 460
dc.relation.ispartofMolecular and Cellular Endocrinology, ISSN:3037207, Vol.460,(2018); pp. 170-180spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85025838278&doi=10.1016%2fj.mce.2017.07.021&partnerID=40&md5=279ced63f83ca6e682a36982b5fda24cspa
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.keywordGene expressionspa
dc.subject.keywordGene mutationspa
dc.subject.keywordHumanspa
dc.subject.keywordMassively parallel sequencingspa
dc.subject.keywordMeiosisspa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordNonhumanspa
dc.subject.keywordOvary follicle developmentspa
dc.subject.keywordOvulationspa
dc.subject.keywordPathogenesisspa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPriority journalspa
dc.subject.keywordReviewspa
dc.subject.keywordSequence analysisspa
dc.subject.keywordSex determinationspa
dc.subject.keywordFemalespa
dc.subject.keywordGeneticsspa
dc.subject.keywordHigh throughput sequencingspa
dc.subject.keywordMetabolismspa
dc.subject.keywordOvary folliclespa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordProceduresspa
dc.subject.keywordSex determination processspa
dc.subject.keywordFemalespa
dc.subject.keywordHigh-throughput nucleotide sequencingspa
dc.subject.keywordHumansspa
dc.subject.keywordMeiosisspa
dc.subject.keywordOvarian folliclespa
dc.subject.keywordOvulationspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordSex determination processesspa
dc.subject.keywordFemale infertilityspa
dc.subject.keywordMolecular aetiologyspa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.titleThe molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencingspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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