Ítem
Solo Metadatos

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

Mostrar el registro sencillo de la publicación
dc.creatorPatiño L.C.spa
dc.creatorBeau I.spa
dc.creatorMorel, Adrienspa
dc.creatorDelemer B.spa
dc.creatorYoung J.spa
dc.creatorBinart N.spa
dc.creatorLaissue P.spa
dc.date.accessioned2020-05-26T00:10:26Z
dc.date.available2020-05-26T00:10:26Z
dc.date.created2019spa
dc.description.abstractPrimary ovarian insufficiency (POI) is a frequently occurring disease affecting women under 40 years old. Recently, we have analyzed unrelated POI women via whole exome sequencing (WES) and identified NOTCH2 mutations underlying possible functional effects. The present study involved reanalyzing of WES assays. We used in the KGN granulosa-like cell model, a synthetic gene reporter construct driving luciferase gene expression to assess the functional effects of five NOTCH2 mutations identified in POI patients. We found that NOTCH2-p.Ser1804Leu, p.Ala2316Val, and p.Pro2359Ala mutations had a functional impact on the protein's transcriptional activity. The results have demonstrated for the first time that NOTCH2 mutations contribute to POI etiology. We therefore recommend sequencing NOTCH2's open reading frame in large panels of POI patients to establish an accurate genotype–phenotype correlation. We cannot rule out the fact that patients affected by Alagille syndrome carrying NOTCH2 mutations may suffer ovarian dysfunction. © 2018 Wiley Periodicals, Inc.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/humu.23667
dc.identifier.issn10981004
dc.identifier.issn10597794
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24228
dc.language.isoengspa
dc.publisherJohn Wiley and Sons Inc.spa
dc.relation.citationEndPage30
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage25
dc.relation.citationTitleHuman Mutation
dc.relation.citationVolumeVol. 40
dc.relation.ispartofHuman Mutation, ISSN:10981004, 10597794, Vol.40, No.1 (2019); pp. 25-30spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85055263783&doi=10.1002%2fhumu.23667&partnerID=40&md5=93d5ea02bc62ed142a508634db19fb42spa
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.keywordLuciferasespa
dc.subject.keywordhumaneng
dc.subject.keywordNotch2 proteineng
dc.subject.keywordNotch2 receptorspa
dc.subject.keywordArticlespa
dc.subject.keywordFemalespa
dc.subject.keywordGene expressionspa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHumanspa
dc.subject.keywordMissense mutationspa
dc.subject.keywordOpen reading framespa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPriority journalspa
dc.subject.keywordWhole exome sequencingspa
dc.subject.keywordAmino acid sequencespa
dc.subject.keywordChemistryspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGenetic transcriptionspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMissense mutationspa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordAmino acid sequencespa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordHumansspa
dc.subject.keywordMutationeng
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordReceptoreng
dc.subject.keywordTranscriptioneng
dc.subject.keywordFemale infertilityspa
dc.subject.keywordNotch2 mutationsspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordWhole-exome sequencingspa
dc.titleFunctional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiologyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
Archivos
Colecciones
Artículos