Detailed Information on Publication Record
2017
PAX9 gene mutations and tooth agenesis: A review
BONCZEK, Ondřej, Vladimír Josef BALCAR and Omar ŠERÝBasic information
Original name
PAX9 gene mutations and tooth agenesis: A review
Name in Czech
Mutace v genu pro PAX9 a zubní ageneze: souhrn
Authors
BONCZEK, Ondřej (203 Czech Republic, belonging to the institution), Vladimír Josef BALCAR (36 Australia) and Omar ŠERÝ (203 Czech Republic, guarantor, belonging to the institution)
Edition
Clinical Genetics, Hoboken, Wiley, 2017, 0009-9163
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
30200 3.2 Clinical medicine
Country of publisher
United States of America
Confidentiality degree
není předmětem státního či obchodního tajemství
Impact factor
Impact factor: 3.512
RIV identification code
RIV/00216224:14310/17:00095659
Organization unit
Faculty of Science
UT WoS
000412590300002
Keywords (in Czech)
PAX9; gene; hypodoncie; oligodoncie; mutace
Keywords in English
PAX9; gene; hypodontia; oligodontia; mutation
Tags
International impact, Reviewed
Změněno: 10/4/2018 14:37, Ing. Nicole Zrilić
V originále
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.
In Czech
Nejběžnějším důsledkem mutace genu PAX9 je autosomálně dominantní izolovaná (nesyndromická) oligodontie nebo hypodontie. V tomto přehledu shrnujeme všechny známé mutace PAX9, stejně jako jejich povahu a přesné lokusy v DNA sekvenci genu.
Links
| NT11420, research and development project |
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