Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F15%3A00087453" target="_blank" >RIV/00216224:14310/15:00087453 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia

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 350 signaling molecules including mainly transcription factors, growth factors, receptors etc. Synergistic and antagonistic interactions between these molecules may lead to their local activation or inhibition. The aim of our study was to investigate the relationship between PAX9 gene variants and tooth agenesis in the Czech population. The selected regions of PAX9 gene were analyzed by direct sequencing and compared with the reference sequence from the GenBank on-line database (NCBI). We found several novel variants in the PAX9 gene. The newly identified causative g.9527G gt;T mutation is located in intron 2, in the area recognized as the splicing site between exon 2 and intron 2 of the PAX9 gene. The other mutations in the PAX9 gene e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry

OECD FORD branch

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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)

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů