Počet záznamů: 1
A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene
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SYSNO ASEP 0443239 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene Tvůrce(i) Šerý, Omar (UZFG-Y) RID
Bonczek, Ondřej (UZFG-Y)
Hloušková, A. (CZ)
Černochová, P. (CZ)
Vaněk, J. (CZ)
Míšek, Ivan (UZFG-Y)
Krejčí, J. (CZ)
Izakovičová Hollá, L. (CZ)Zdroj.dok. European Journal of Oral Sciences. - : Wiley - ISSN 0909-8836
Roč. 123, č. 2 (2015), s. 65-71Poč.str. 7 s. Forma vydání Tištěná - P Jazyk dok. eng - angličtina Země vyd. DK - Dánsko Klíč. slova monozygotic twins ; mutation screening ; oligodontia Vědní obor RIV FF - ORL, oftalmologie, stomatologie CEP GB14-37368G GA ČR - Grantová agentura ČR NT11420 GA MZd - Ministerstvo zdravotnictví Institucionální podpora UZFG-Y - RVO:67985904 UT WOS 000351166700002 EID SCOPUS 84924797948 DOI 10.1111/eos.12170 Anotace Tooth agenesis is one of the most common developmental anomalies in humans. To date, many mutations involving paired box 9 (PAX9), msh homeobox 1 (MSX1), and axin 2 (AXIN2) genes have been identified. The aim of the present study was to perform screening for mutations and/or polymorphisms using the capillary sequencing method in the critical regions of PAX9 and MSX1 genes in a group of 270 individuals with tooth agenesis and in 30 healthy subjects of Czech origin. This screening revealed a previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia and three additional affected family members. The same variant was not found in healthy relatives. This mutation is located in intron 2, in the region recognized as the splice site between exon 2 and intron 2. We hypothesize that the error in pre-mRNA splicing may lead to lower expression of PAX9 protein and could have contributed to the development of tooth agenesis in the affected subjects. Pracoviště Ústav živočišné fyziologie a genetiky Kontakt Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Rok sběru 2016
Počet záznamů: 1