The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F12%3A00064887" target="_blank" >RIV/00216224:14310/12:00064887 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population
Original language description
Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and mesenchyme. These interactions are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Tooth agenesisis the most prevalent craniofacial congenital malformation in humans. Pax9 is a transcription factor that is named according to the presence of DNA binding ?paired? domain. It interacts with Msx1 and mutations in PAX9 and MSX1 genes were associated withseveral type of tooth agenesis. The aim of this work was to study mutations of the first three exons sequences of PAX9 gene. DNA was isolated with UltraClean BloodSpin DNA Isolation Kit (Mo-Bio). Blood samples or buccal swabs from 200 Czech patients withvarious types of tooth agenesis were used for this purpose. Amplicons were sequenced with ABI 3130 Prism (Applied Biosystems). Finally, sequences were compared with standard sequences of PAX9 gene.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
ED - Physiology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT11420" target="_blank" >NT11420: Molecular diagnostics of hypodontia and possibilities of tooth autotransplantation</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů