Mostrar el registro sencillo del registro

Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis

dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.contributor.authorGarcia-Acero, Mary
dc.contributor.authorMolina Camargo, Monica Lorena
dc.contributor.authorMoreno Niño, Olga María
dc.contributor.authorRamirez Rodriguez, Andrea
dc.contributor.authorForero Ronderos, Catalina
dc.contributor.authorCespedes Salazar, Camila
dc.contributor.authorPrieto Rivera, Juan Carlos
dc.contributor.authorPerez Niño, Jaime
dc.contributor.authorSuárez-Obando, F.
dc.contributor.authorRojas, Adriana
dc.coverage.spatialColombiaspa
dc.date.accessioned2020-03-04T13:50:00Z
dc.date.accessioned2020-04-15T13:31:26Z
dc.date.available2020-03-04T13:50:00Z
dc.date.available2020-04-15T13:31:26Z
dc.date.created2019-03-16
dc.identifierhttps://link.springer.com/article/10.1007/s11033-019-04758-yspa
dc.identifier.issn0301-4851 / 1573-4978 (Electrónico)spa
dc.identifier.urihttp://hdl.handle.net/10554/47444
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.languageengspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceMolecular Biology Reports; Volumen 46 Número 3 (2019)spa
dc.titleGene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesisspa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.description.quartilewosQ4spa
dc.description.quartilescopusQ4spa
dc.identifier.doihttps://doi.org/10.1007/s11033-019-04758-yspa
dc.description.tipoarticuloArtículo originalspa
dc.description.paginas2971 - 2978spa
dc.description.comunidadPacientes con Disgenesia gonadal
dc.format.soportePapel / Electrónicospa
dc.subject.keywordSex reversal syndromespa
dc.subject.keywordSimple gonadal dysgenesisspa
dc.subject.keywordGonadoblastomaspa
dc.subject.keywordDisorders of sex developmentspa
dc.subject.keywordDSDspa
dc.subject.keywordDAX-1spa
dc.description.abstractenglishTwo sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9-SF1.spa
dc.type.localArtículo de revistaspa
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría. Grupo de Investigación de la Mujer y de la Infancia (GIMI)
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología
dc.description.orcidhttps://orcid.org/0000-0002-7109-3342
dc.description.orcidhttps://orcid.org/0000-0001-6672-1730
dc.description.orcidhttps://orcid.org/0000-0002-0826-6191
dc.description.orcidhttps://orcid.org/0000-0002-4785-6848
dc.description.orcidhttps://orcid.org/0000-0003-2241-7854
dc.description.orcidhttps://orcid.org/0000-0002-7856-7213
dc.description.orcidhttps://orcid.org/0000-0001-8706-0775
dc.description.orcidhttps://orcid.org/0000-0002-2231-4321
dc.description.orcidhttps://orcid.org/0000-0001-6336-5347
dc.description.orcidhttps://orcid.org/0000-0001-8528-4433
dc.contributor.javerianateacherMoreno Niño, Olga María
dc.contributor.javerianateacherCespedes Salazar, Camila
dc.contributor.javerianateacherPrieto Rivera, Juan Carlos
dc.contributor.javerianateacherPerez Niño, Jaime
dc.contributor.javerianateacherSuárez-Obando, F.
dc.contributor.javerianateacherRojas, Adriana
dc.description.publindexA2


Ficheros en el registro

Thumbnail
Nombre:
García-Acero2019_Article_GeneD ...
Tamaño:
1.061Mb
Formato:
PDF
Descripción:
Artículo
Ver / Descargar

Este registro aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del registro

Atribución-NoComercial 4.0 Internacional
Excepto si se señala otra cosa, la licencia del registro se describe como Atribución-NoComercial 4.0 Internacional