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PAX9 gene mutations and tooth agenesis: A review

The result's identifiers

  • Result code in 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>

  • Alternative codes found

    RIV/00216224:14310/17:00095659

  • Result on the web

    <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>

Alternative languages

  • Result language

    angličtina

  • Original language name

    PAX9 gene mutations and tooth agenesis: A review

  • Original language description

    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.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30208 - Dentistry, oral surgery and medicine

Result continuities

  • Project

    <a href="/en/project/NT11420" target="_blank" >NT11420: Molecular diagnostics of hypodontia and possibilities of tooth autotransplantation</a><br>

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2017

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Clinical Genetics

  • ISSN

    0009-9163

  • e-ISSN

  • Volume of the periodical

    92

  • Issue of the periodical within the volume

    5

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    10

  • Pages from-to

    467-476

  • UT code for WoS article

    000412590300002

  • EID of the result in the Scopus database

    2-s2.0-85016929185