Ítem
Acceso Abierto

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

Mostrar el registro sencillo de la publicación
dc.creatorSalazar M.spa
dc.creatorConsoli F.spa
dc.creatorVillegas Gálvez, Victoria Eugeniaspa
dc.creatorCaicedo V.spa
dc.creatorMaddaloni V.spa
dc.creatorDaniele P.spa
dc.creatorCaianiello G.spa
dc.creatorPachón S.spa
dc.creatorNuñez F.spa
dc.creatorLimongelli G.spa
dc.creatorPacileo G.spa
dc.creatorMarino B.spa
dc.creatorBernal J.E.spa
dc.creatorDe Luca A.spa
dc.creatorDallapiccola B.spa
dc.date.accessioned2020-05-26T00:07:31Z
dc.date.available2020-05-26T00:07:31Z
dc.date.created2011spa
dc.description.abstractHigh prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the pathogenesis of these congenital heart defects (CHDs). However, all somatic mutations have been identified in DNA extracted from an archive of formalin-fixed cardiac tissues. In the present study, to address the hypothesis that somatic mutations are important in isolated CHDs, we analyzed the GATA4 and NKX2.5 genes in the fresh-frozen pathologic cardiac tissue specimen and corresponding non-diseased tissue obtained from a series of 62 CHD patients, including 35 patients with cardiac septal defects and 27 with other cardiac anomalies. We identified one variant and two common polymorphisms in the NKX2.5 gene, and six variants and two common polymorphisms in the GATA4 gene. All identified variants were seen in both the fresh-frozen pathologic cardiac tissue and the corresponding non-diseased tissue, which indicates that they all were constitutional variants. The present study has identified NKX2.5 and GATA4 constitutional variants in our CHD cohort, but was unable to replicate the previously published findings of high prevalence of somatically derived sequence mutations in patients with cardiac septal defects using fresh-frozen cardiac tissues rather than formalin-fixed tissues. © 2011 Elsevier Masson SAS.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.ejmg.2011.01.004
dc.identifier.issn17697212
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24009
dc.language.isoengspa
dc.relation.citationEndPage309
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage306
dc.relation.citationTitleEuropean Journal of Medical Genetics
dc.relation.citationVolumeVol. 54
dc.relation.ispartofEuropean Journal of Medical Genetics, ISSN:17697212, Vol.54, No.3 (2011); pp. 306-309spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-79955470397&doi=10.1016%2fj.ejmg.2011.01.004&partnerID=40&md5=8ba79e9443fcb74b2a8b57e268e00b76spa
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.keywordFormaldehydespa
dc.subject.keywordTranscription factor gata 4spa
dc.subject.keywordsingle nucleotideeng
dc.subject.keywordpreschooleng
dc.subject.keywordnewborneng
dc.subject.keywordmissenseeng
dc.subject.keywordTranscription factor nkx2.5spa
dc.subject.keywordArticlespa
dc.subject.keywordClinical articlespa
dc.subject.keywordCohort analysisspa
dc.subject.keywordCongenital heart diseasespa
dc.subject.keywordControlled studyspa
dc.subject.keywordFemalespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene sequencespa
dc.subject.keywordGenetic polymorphismspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordHeartspa
dc.subject.keywordHeart septum defectspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman cellspa
dc.subject.keywordHuman tissuespa
dc.subject.keywordHypothesisspa
dc.subject.keywordMalespa
dc.subject.keywordPathologyspa
dc.subject.keywordAdolescentspa
dc.subject.keywordChildspa
dc.subject.keywordChildeng
dc.subject.keywordCohort studiesspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordFemalespa
dc.subject.keywordFrozen sectionsspa
dc.subject.keywordGata4 transcription factorspa
dc.subject.keywordHeart septal defectsspa
dc.subject.keywordHomeodomain proteinsspa
dc.subject.keywordHumansspa
dc.subject.keywordInfantspa
dc.subject.keywordInfanteng
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordMutationeng
dc.subject.keywordMyocardiumspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordTranscription factorsspa
dc.subject.keywordYoung adultspa
dc.subject.keywordCardiac septal defectspa
dc.subject.keywordCongenital heart diseasespa
dc.subject.keywordGata4spa
dc.subject.keywordNkx2.5spa
dc.subject.keywordSomatic mutationsspa
dc.titleSearch of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defectsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
Archivos
Bloque original
Mostrando1 - 1 de 1
Miniatura
Nombre:
Search_of_somatic_GATA4_and_NKX2_5_gene.pdf
Tamaño:
129.53 KB
Formato:
Adobe Portable Document Format
Descripción:
Descargar
Colecciones
Artículos