Multifunctional role of steroidogenic factor 1 and disorders of sex development
dc.contributor.author | Mello, Maricilda Palandi de [UNIFESP] | |
dc.contributor.author | França, Emerson Salvador de Souza | |
dc.contributor.author | Fabbri, Helena Campos | |
dc.contributor.author | Maciel-Guerra, Andrea Trevas | |
dc.contributor.author | Guerra-Junior, Gil | |
dc.contributor.institution | Universidade Estadual de Campinas (UNICAMP) | |
dc.contributor.institution | Universidade Federal de São Paulo (UNIFESP) | |
dc.date.accessioned | 2018-06-15T14:00:11Z | |
dc.date.available | 2018-06-15T14:00:11Z | |
dc.date.issued | 2011-11-01 | |
dc.description.abstract | Disorders 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):607-12 | en |
dc.description.affiliation | Univ Estadual Campinas, CBMEG, BR-13083875 Campinas, SP, Brazil | |
dc.description.affiliation | Univ Estadual Campinas, Fac Ciencias Med, Dept Med Genet, Campinas, SP, Brazil | |
dc.description.affiliation | Univ Estadual Campinas, Fac Ciencias Med, Dept Pediat, Campinas, SP, Brazil | |
dc.description.source | Web of Science | |
dc.description.sponsorship | Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) | |
dc.description.sponsorship | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.format.extent | 607-612 | |
dc.identifier | http://dx.doi.org/10.1590/S0004-27302011000800015 | |
dc.identifier.citation | Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 55, n. 8, p. 607-612, 2011. | |
dc.identifier.doi | 10.1590/S0004-27302011000800015 | |
dc.identifier.file | S0004-27302011000800015.pdf | |
dc.identifier.issn | 0004-2730 | |
dc.identifier.scielo | S0004-27302011000800015 | |
dc.identifier.uri | http://repositorio.unifesp.br/handle/11600/42707 | |
dc.identifier.wos | WOS:000298885900015 | |
dc.language.iso | eng | |
dc.publisher | Sbem-soc Brasil Endocrinologia & Metabologia | |
dc.relation.ispartof | Arquivos Brasileiros De Endocrinologia E Metabologia | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Steroidogenic factor 1 | en |
dc.subject | NR5A1 gene | en |
dc.subject | disorders of sex development | en |
dc.title | Multifunctional role of steroidogenic factor 1 and disorders of sex development | en |
dc.title.alternative | Papel multifuncional do fator esteroidogênico 1 e as doenças do desenvolvimento sexual | pt |
dc.type | info:eu-repo/semantics/article |