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

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

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Título MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis
Autor Lopez, Sofia Iara Nizarala
Mundstock, Karina Santos
Paixão Côrtes, Vanessa Rodrigues
Faccini, Lavinia Schuler
Mundstock, Carlos Alberto
Bortolini, Maria Cátira
Salzano, Francisco Mauro
Abstract 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.
Contido em Twin Research and Human Genetics. Cambridge, England. Vol. 16, no. 6 (Dec. 2013), p. 1112-1116
Assunto Agenesia
Anodontia
Dentes : Anomalias
Expressão gênica
Gêmeos monozigóticos
[en] Dental agenesis
[en] Gene expression
[en] Monozygotic twins
[en] MSX1 and PAX9
Origem Estrangeiro
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/108469
Arquivos Descrição Formato
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