MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis

Detalhes bibliográficos
Autor(a) principal: Lopez, Sofia Iara Nizarala
Data de Publicação: 2013
Outros Autores: Mundstock, Karina Santos, Paixão Côrtes, Vanessa Rodrigues, Faccini, Lavinia Schuler, Mundstock, Carlos Alberto, Bortolini, Maria Cátira, Salzano, Francisco Mauro
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/108469
Resumo: Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait’s expression.
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spelling Lopez, Sofia Iara NizaralaMundstock, Karina SantosPaixão Côrtes, Vanessa RodriguesFaccini, Lavinia SchulerMundstock, Carlos AlbertoBortolini, Maria CátiraSalzano, Francisco Mauro2014-12-19T02:11:10Z20131832-4274http://hdl.handle.net/10183/108469000907192Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait’s expression.application/pdfengTwin Research and Human Genetics. Cambridge, England. Vol. 16, no. 6 (Dec. 2013), p. 1112-1116Gêmeos monozigóticosAgenesiaExpressão gênicaDentes : AnomaliasAnodontiaDental agenesisMSX1 and PAX9Monozygotic twinsGene expressionMSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesisEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000907192.pdf000907192.pdfTexto completo (inglês)application/pdf361627http://www.lume.ufrgs.br/bitstream/10183/108469/1/000907192.pdf83261b4cf839024241d8d54fef7b06edMD51TEXT000907192.pdf.txt000907192.pdf.txtExtracted Texttext/plain13701http://www.lume.ufrgs.br/bitstream/10183/108469/2/000907192.pdf.txtfbeda73c1edafa37141bd1440809c838MD52THUMBNAIL000907192.pdf.jpg000907192.pdf.jpgGenerated Thumbnailimage/jpeg1957http://www.lume.ufrgs.br/bitstream/10183/108469/3/000907192.pdf.jpg96811e40b3f22ac770544b5235013af2MD5310183/1084692019-09-29 03:45:36.416017oai:www.lume.ufrgs.br:10183/108469Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2019-09-29T06:45:36Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
title MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
spellingShingle MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
Lopez, Sofia Iara Nizarala
Gêmeos monozigóticos
Agenesia
Expressão gênica
Dentes : Anomalias
Anodontia
Dental agenesis
MSX1 and PAX9
Monozygotic twins
Gene expression
title_short MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
title_full MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
title_fullStr MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
title_full_unstemmed MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
title_sort MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
author Lopez, Sofia Iara Nizarala
author_facet Lopez, Sofia Iara Nizarala
Mundstock, Karina Santos
Paixão Côrtes, Vanessa Rodrigues
Faccini, Lavinia Schuler
Mundstock, Carlos Alberto
Bortolini, Maria Cátira
Salzano, Francisco Mauro
author_role author
author2 Mundstock, Karina Santos
Paixão Côrtes, Vanessa Rodrigues
Faccini, Lavinia Schuler
Mundstock, Carlos Alberto
Bortolini, Maria Cátira
Salzano, Francisco Mauro
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Lopez, Sofia Iara Nizarala
Mundstock, Karina Santos
Paixão Côrtes, Vanessa Rodrigues
Faccini, Lavinia Schuler
Mundstock, Carlos Alberto
Bortolini, Maria Cátira
Salzano, Francisco Mauro
dc.subject.por.fl_str_mv Gêmeos monozigóticos
Agenesia
Expressão gênica
Dentes : Anomalias
Anodontia
topic Gêmeos monozigóticos
Agenesia
Expressão gênica
Dentes : Anomalias
Anodontia
Dental agenesis
MSX1 and PAX9
Monozygotic twins
Gene expression
dc.subject.eng.fl_str_mv Dental agenesis
MSX1 and PAX9
Monozygotic twins
Gene expression
description Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait’s expression.
publishDate 2013
dc.date.issued.fl_str_mv 2013
dc.date.accessioned.fl_str_mv 2014-12-19T02:11:10Z
dc.type.driver.fl_str_mv Estrangeiro
info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/108469
dc.identifier.issn.pt_BR.fl_str_mv 1832-4274
dc.identifier.nrb.pt_BR.fl_str_mv 000907192
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url http://hdl.handle.net/10183/108469
dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Twin Research and Human Genetics. Cambridge, England. Vol. 16, no. 6 (Dec. 2013), p. 1112-1116
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instname:Universidade Federal do Rio Grande do Sul (UFRGS)
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institution UFRGS
reponame_str Repositório Institucional da UFRGS
collection Repositório Institucional da UFRGS
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