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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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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
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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