Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F15%3A33157974" target="_blank" >RIV/61989592:15110/15:33157974 - isvavai.cz</a>

Alternative codes found

RIV/67985904:_____/15:00457793 RIV/00843989:_____/15:E0105024 RIV/00159816:_____/15:00063982 RIV/00216224:14310/15:00087473

Result on the web

<a href="http://file:///C:/Users/svobodh/Downloads/NEL36_5_2015_Sery_000.pdf" target="_blank" >http://file:///C:/Users/svobodh/Downloads/NEL36_5_2015_Sery_000.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.

Original language description

OBJECTIVES: Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population. METHODS: The selected regions of the PAX9 gene were analysedby direct sequencing and compared with the reference sequence from the GenBank online database (NCBI). RESULTS: We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related t

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

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

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2015

Confidentiality

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

Name of the periodical

Neuroendocrinology Letters

ISSN

0172-780X

e-ISSN

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Volume of the periodical

36

Issue of the periodical within the volume

5

Country of publishing house

SE - SWEDEN

Number of pages

6

Pages from-to

101-106

UT code for WoS article

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EID of the result in the Scopus database

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