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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FF - ORL, oftalmologie, stomatologie

OECD FORD obor

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Projekt

<a href="/cs/project/NT11420" target="_blank" >NT11420: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací</a><br>

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Neuroendocrinology Letters

ISSN

0172-780X

e-ISSN

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Svazek periodika

36

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

SE - Švédské království

Počet stran výsledku

6

Strana od-do

101-106

Kód UT WoS článku

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EID výsledku v databázi Scopus

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