Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants

Detalhes bibliográficos
Autor(a) principal: Silva, I. A. L.
Data de Publicação: 2016
Outros Autores: Michou, L., Cancela, M. Leonor, Conceição, Natércia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.1/9534
Resumo: Background: Optineurin (OPTN) is a gene located in chromosome 10 that has been associated with several pathologies, including Paget’s disease of bone (PDB). Using DNA samples from our cohort of PDB patients we have found two SNPs in OPTN promoter (rs3829923 and RV -9906) that could alter OPTN expression. However little is known about the role of this gene in bone and how this gene is regulated.
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spelling Functional study of OPTN promoter: new OPTN regulators and effect of genetic variantsBackground: Optineurin (OPTN) is a gene located in chromosome 10 that has been associated with several pathologies, including Paget’s disease of bone (PDB). Using DNA samples from our cohort of PDB patients we have found two SNPs in OPTN promoter (rs3829923 and RV -9906) that could alter OPTN expression. However little is known about the role of this gene in bone and how this gene is regulated.SapientiaSilva, I. A. L.Michou, L.Cancela, M. LeonorConceição, Natércia2017-04-07T15:56:49Z2016-042016-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.1/9534eng0014-2972info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-24T10:21:00Zoai:sapientia.ualg.pt:10400.1/9534Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:01:27.434422Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
title Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
spellingShingle Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
Silva, I. A. L.
title_short Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
title_full Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
title_fullStr Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
title_full_unstemmed Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
title_sort Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants
author Silva, I. A. L.
author_facet Silva, I. A. L.
Michou, L.
Cancela, M. Leonor
Conceição, Natércia
author_role author
author2 Michou, L.
Cancela, M. Leonor
Conceição, Natércia
author2_role author
author
author
dc.contributor.none.fl_str_mv Sapientia
dc.contributor.author.fl_str_mv Silva, I. A. L.
Michou, L.
Cancela, M. Leonor
Conceição, Natércia
description Background: Optineurin (OPTN) is a gene located in chromosome 10 that has been associated with several pathologies, including Paget’s disease of bone (PDB). Using DNA samples from our cohort of PDB patients we have found two SNPs in OPTN promoter (rs3829923 and RV -9906) that could alter OPTN expression. However little is known about the role of this gene in bone and how this gene is regulated.
publishDate 2016
dc.date.none.fl_str_mv 2016-04
2016-04-01T00:00:00Z
2017-04-07T15:56:49Z
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.1/9534
url http://hdl.handle.net/10400.1/9534
dc.language.iso.fl_str_mv eng
language eng
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dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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