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dc.creatorLaissue P. 
dc.date.accessioned2020-05-25T23:57:06Z
dc.date.available2020-05-25T23:57:06Z
dc.date.created2018
dc.identifier.issn3037207
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22605
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.
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofMolecular and Cellular Endocrinology, ISSN:3037207, Vol.460,(2018); pp. 170-180
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=279ced63f83ca6e682a36982b5fda24c
dc.titleThe molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing
dc.typearticle
dc.publisherElsevier Ireland Ltd
dc.subject.keywordGene expression
dc.subject.keywordGene mutation
dc.subject.keywordHuman
dc.subject.keywordMassively parallel sequencing
dc.subject.keywordMeiosis
dc.subject.keywordNext generation sequencing
dc.subject.keywordNonhuman
dc.subject.keywordOvary follicle development
dc.subject.keywordOvulation
dc.subject.keywordPathogenesis
dc.subject.keywordPremature ovarian failure
dc.subject.keywordPriority journal
dc.subject.keywordReview
dc.subject.keywordSequence analysis
dc.subject.keywordSex determination
dc.subject.keywordFemale
dc.subject.keywordGenetics
dc.subject.keywordHigh throughput sequencing
dc.subject.keywordMetabolism
dc.subject.keywordOvary follicle
dc.subject.keywordPremature ovarian failure
dc.subject.keywordProcedures
dc.subject.keywordSex determination process
dc.subject.keywordFemale
dc.subject.keywordHigh-throughput nucleotide sequencing
dc.subject.keywordHumans
dc.subject.keywordMeiosis
dc.subject.keywordOvarian follicle
dc.subject.keywordOvulation
dc.subject.keywordPrimary ovarian insufficiency
dc.subject.keywordSex determination processes
dc.subject.keywordFemale infertility
dc.subject.keywordMolecular aetiology
dc.subject.keywordNext generation sequencing
dc.subject.keywordPrimary ovarian insufficiency
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doihttps://doi.org/10.1016/j.mce.2017.07.021
dc.relation.citationEndPage180
dc.relation.citationStartPage170
dc.relation.citationTitleMolecular and Cellular Endocrinology
dc.relation.citationVolumeVol. 460
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR


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