PAX9 gene mutations and tooth agenesis: A review

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F17%3A00480624" target="_blank" >RIV/67985904:_____/17:00480624 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216224:14310/17:00095659

Výsledek na webu

<a href="http://dx.doi.org/10.1111/cge.12986" target="_blank" >http://dx.doi.org/10.1111/cge.12986</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/cge.12986" target="_blank" >10.1111/cge.12986</a>

Jazyk výsledku

angličtina

Název v původním jazyce

PAX9 gene mutations and tooth agenesis: A review

Popis výsledku v původním jazyce

Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

Název v anglickém jazyce

PAX9 gene mutations and tooth agenesis: A review

Popis výsledku anglicky

Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30208 - Dentistry, oral surgery and medicine

Projekt

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

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

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

Název periodika

Clinical Genetics

ISSN

0009-9163

e-ISSN

—

Svazek periodika

92

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

467-476

Kód UT WoS článku

000412590300002

EID výsledku v databázi Scopus

2-s2.0-85016929185