Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis
نویسندگان
چکیده
منابع مشابه
Genetic basis of non-syndromic anomalies of human tooth number.
Teeth organogenesis develops through a well-ordered series of inductive events involving genes and BMP, FGF, SHH and WNT represent the main signalling pathways that regulate epithelial-mesenchymal interactions. Moreover, progress in genetics and molecular biology indicates that more than 300 genes are involved in different phases of teeth development. Mutations in genes involved in odontogenesi...
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Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we performed detailed mutational analysis of these two genes sampled from Japanese patients. We identified two novel MSX1 variants with an amino acid substitution within the homeodomain; Thr174Ile (T174I) from a sporadic hypodontia case and Leu205Arg (L205R) from a familial oligodontia case. Both the Thr174 and L...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2016
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0036-1592421