A review on non-syndromic tooth agenesis associated with PAX9 mutations
Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these...
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Elsevier
2018
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| Online Access: | http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf |
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iium-589272019-01-24T01:38:53Z http://irep.iium.edu.my/58927/ A review on non-syndromic tooth agenesis associated with PAX9 mutations Fauzi, Nurul Hasyiqin Ardini, Yunita Dewi Zainuddin, Zarina Lestari, Widya RK Dentistry Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of several genes for tooth epithelium and mesenchyme odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identiˇed as the main causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia. Previous study using animal models reported that PAX9-deˇcient knockout mice exhibit missing molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and nonsense mutations are reported to be responsible; however, the most severe condition showed by the phenotype is caused by haploinsufˇciency. This suggests that PAX9 is dosage-sensitive. Understanding the mechanism of genetic mutations will beneˇt clinicians and human geneticists in future alternative treatment investigations. Elsevier 2018 Article PeerReviewed application/pdf en http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf application/pdf en http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf application/pdf en http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf Fauzi, Nurul Hasyiqin and Ardini, Yunita Dewi and Zainuddin, Zarina and Lestari, Widya (2018) A review on non-syndromic tooth agenesis associated with PAX9 mutations. Japanese Dental Science Review, 54 (1). pp. 30-36. ISSN 1882-7616 http://www.sciencedirect.com/science/article/pii/S1882761616300679 10.1016/j.jdsr.2017.08.001 |
| repository_type |
Digital Repository |
| institution_category |
Local University |
| institution |
International Islamic University Malaysia |
| building |
IIUM Repository |
| collection |
Online Access |
| language |
English English English |
| topic |
RK Dentistry |
| spellingShingle |
RK Dentistry Fauzi, Nurul Hasyiqin Ardini, Yunita Dewi Zainuddin, Zarina Lestari, Widya A review on non-syndromic tooth agenesis associated with PAX9 mutations |
| description |
Tooth agenesis in the reduction of tooth number which includes hypodontia,
oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis.
To date, several genetic mutations that unlock the causes of non-syndromic tooth
agenesis are being discovered; these have been associated with certain illnesses because tooth
development involves the interaction of several genes for tooth epithelium and mesenchyme
odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identiˇed as the main
causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia.
Previous study using animal models reported that PAX9-deˇcient knockout mice exhibit missing
molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and
nonsense mutations are reported to be responsible; however, the most severe condition showed
by the phenotype is caused by haploinsufˇciency. This suggests that PAX9 is dosage-sensitive.
Understanding the mechanism of genetic mutations will beneˇt clinicians and human geneticists
in future alternative treatment investigations. |
| format |
Article |
| author |
Fauzi, Nurul Hasyiqin Ardini, Yunita Dewi Zainuddin, Zarina Lestari, Widya |
| author_facet |
Fauzi, Nurul Hasyiqin Ardini, Yunita Dewi Zainuddin, Zarina Lestari, Widya |
| author_sort |
Fauzi, Nurul Hasyiqin |
| title |
A review on non-syndromic tooth agenesis
associated with PAX9 mutations |
| title_short |
A review on non-syndromic tooth agenesis
associated with PAX9 mutations |
| title_full |
A review on non-syndromic tooth agenesis
associated with PAX9 mutations |
| title_fullStr |
A review on non-syndromic tooth agenesis
associated with PAX9 mutations |
| title_full_unstemmed |
A review on non-syndromic tooth agenesis
associated with PAX9 mutations |
| title_sort |
review on non-syndromic tooth agenesis
associated with pax9 mutations |
| publisher |
Elsevier |
| publishDate |
2018 |
| url |
http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/ http://irep.iium.edu.my/58927/7/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis_SCOPUS.pdf http://irep.iium.edu.my/58927/8/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations.pdf http://irep.iium.edu.my/58927/19/58927_A%20review%20on%20non-syndromic%20tooth%20agenesis%20associated%20with%20PAX9%20mutations_WOS.pdf |
| first_indexed |
2023-09-18T21:23:24Z |
| last_indexed |
2023-09-18T21:23:24Z |
| _version_ |
1777412032359825408 |