Multifunctional role of steroidogenic factor 1 and disorders of sex development

Detalhes bibliográficos
Autor(a) principal: Mello, Maricilda Palandi de [UNIFESP]
Data de Publicação: 2011
Outros Autores: França, Emerson Salvador de Souza, Fabbri, Helena Campos, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1590/S0004-27302011000800015
http://repositorio.unifesp.br/handle/11600/42707
Resumo: 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
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spelling Multifunctional role of steroidogenic factor 1 and disorders of sex developmentPapel multifuncional do fator esteroidogênico 1 e as doenças do desenvolvimento sexualSteroidogenic factor 1NR5A1 genedisorders of sex developmentDisorders 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):607-12Univ Estadual Campinas, CBMEG, BR-13083875 Campinas, SP, BrazilUniv Estadual Campinas, Fac Ciencias Med, Dept Med Genet, Campinas, SP, BrazilUniv Estadual Campinas, Fac Ciencias Med, Dept Pediat, Campinas, SP, BrazilWeb of ScienceFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Sbem-soc Brasil Endocrinologia & MetabologiaUniversidade Estadual de Campinas (UNICAMP)Universidade Federal de São Paulo (UNIFESP)Mello, Maricilda Palandi de [UNIFESP]França, Emerson Salvador de SouzaFabbri, Helena CamposMaciel-Guerra, Andrea TrevasGuerra-Junior, Gil2018-06-15T14:00:11Z2018-06-15T14:00:11Z2011-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion607-612http://dx.doi.org/10.1590/S0004-27302011000800015Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 55, n. 8, p. 607-612, 2011.10.1590/S0004-27302011000800015S0004-27302011000800015.pdf0004-2730S0004-27302011000800015http://repositorio.unifesp.br/handle/11600/42707WOS:000298885900015engArquivos Brasileiros De Endocrinologia E Metabologiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-05-02T13:58:46Zoai:repositorio.unifesp.br/:11600/42707Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-05-02T13:58:46Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Multifunctional role of steroidogenic factor 1 and disorders of sex development
Papel multifuncional do fator esteroidogênico 1 e as doenças do desenvolvimento sexual
title Multifunctional role of steroidogenic factor 1 and disorders of sex development
spellingShingle Multifunctional role of steroidogenic factor 1 and disorders of sex development
Mello, Maricilda Palandi de [UNIFESP]
Steroidogenic factor 1
NR5A1 gene
disorders of sex development
title_short Multifunctional role of steroidogenic factor 1 and disorders of sex development
title_full Multifunctional role of steroidogenic factor 1 and disorders of sex development
title_fullStr Multifunctional role of steroidogenic factor 1 and disorders of sex development
title_full_unstemmed Multifunctional role of steroidogenic factor 1 and disorders of sex development
title_sort Multifunctional role of steroidogenic factor 1 and disorders of sex development
author Mello, Maricilda Palandi de [UNIFESP]
author_facet Mello, Maricilda Palandi de [UNIFESP]
França, Emerson Salvador de Souza
Fabbri, Helena Campos
Maciel-Guerra, Andrea Trevas
Guerra-Junior, Gil
author_role author
author2 França, Emerson Salvador de Souza
Fabbri, Helena Campos
Maciel-Guerra, Andrea Trevas
Guerra-Junior, Gil
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
dc.contributor.author.fl_str_mv Mello, Maricilda Palandi de [UNIFESP]
França, Emerson Salvador de Souza
Fabbri, Helena Campos
Maciel-Guerra, Andrea Trevas
Guerra-Junior, Gil
dc.subject.por.fl_str_mv Steroidogenic factor 1
NR5A1 gene
disorders of sex development
topic Steroidogenic factor 1
NR5A1 gene
disorders of sex development
description 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
publishDate 2011
dc.date.none.fl_str_mv 2011-11-01
2018-06-15T14:00:11Z
2018-06-15T14:00:11Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/S0004-27302011000800015
Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 55, n. 8, p. 607-612, 2011.
10.1590/S0004-27302011000800015
S0004-27302011000800015.pdf
0004-2730
S0004-27302011000800015
http://repositorio.unifesp.br/handle/11600/42707
WOS:000298885900015
url http://dx.doi.org/10.1590/S0004-27302011000800015
http://repositorio.unifesp.br/handle/11600/42707
identifier_str_mv Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 55, n. 8, p. 607-612, 2011.
10.1590/S0004-27302011000800015
S0004-27302011000800015.pdf
0004-2730
S0004-27302011000800015
WOS:000298885900015
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Arquivos Brasileiros De Endocrinologia E Metabologia
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 607-612
dc.publisher.none.fl_str_mv Sbem-soc Brasil Endocrinologia & Metabologia
publisher.none.fl_str_mv Sbem-soc Brasil Endocrinologia & Metabologia
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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