Multifunctional role of steroidogenic factor 1 and disorders of sex development

dc.contributor.authorMello, Maricilda Palandi de [UNIFESP]
dc.contributor.authorFrança, Emerson Salvador de Souza
dc.contributor.authorFabbri, Helena Campos
dc.contributor.authorMaciel-Guerra, Andrea Trevas
dc.contributor.authorGuerra-Junior, Gil
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2018-06-15T14:00:11Z
dc.date.available2018-06-15T14:00:11Z
dc.date.issued2011-11-01
dc.description.abstractDisorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1. Arq Bras Endocrinol Metab. 2011;55(8):607-12en
dc.description.affiliationUniv Estadual Campinas, CBMEG, BR-13083875 Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, Fac Ciencias Med, Dept Med Genet, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, Fac Ciencias Med, Dept Pediat, Campinas, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.format.extent607-612
dc.identifierhttp://dx.doi.org/10.1590/S0004-27302011000800015
dc.identifier.citationArquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 55, n. 8, p. 607-612, 2011.
dc.identifier.doi10.1590/S0004-27302011000800015
dc.identifier.fileS0004-27302011000800015.pdf
dc.identifier.issn0004-2730
dc.identifier.scieloS0004-27302011000800015
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/42707
dc.identifier.wosWOS:000298885900015
dc.language.isoeng
dc.publisherSbem-soc Brasil Endocrinologia & Metabologia
dc.relation.ispartofArquivos Brasileiros De Endocrinologia E Metabologia
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectSteroidogenic factor 1en
dc.subjectNR5A1 geneen
dc.subjectdisorders of sex developmenten
dc.titleMultifunctional role of steroidogenic factor 1 and disorders of sex developmenten
dc.title.alternativePapel multifuncional do fator esteroidogênico 1 e as doenças do desenvolvimento sexualpt
dc.typeinfo:eu-repo/semantics/article
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