Genes involved in amelogenesis imperfecta. Part II
Amelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth enamel. AI may exist in isolation or associated with other systemic conditions as part of a syndromic AI. Our goal is to describe in detail the genes involved in syndromic AI, the proteins encoded by the...
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| Format: | Article |
| Language: | English |
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Universidad de Antioquia
2019-10-01
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| Series: | Revista Facultad de Odontología Universidad de Antioquia |
| Subjects: | |
| Online Access: | https://revistas.udea.edu.co/index.php/odont/article/view/339197/20794839 |
| _version_ | 1818663741514842112 |
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| author | Víctor Hugo Simancas-Escorcia Alfredo Enrique Natera-Guarapo María Gabriela Acosta-de Camargo |
| author_facet | Víctor Hugo Simancas-Escorcia Alfredo Enrique Natera-Guarapo María Gabriela Acosta-de Camargo |
| author_sort | Víctor Hugo Simancas-Escorcia |
| collection | DOAJ |
| description | Amelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth enamel. AI may exist in isolation or associated with other systemic conditions as part of a syndromic AI. Our goal is to describe in detail the genes involved in syndromic AI, the proteins encoded by these genes, and their functions according to current scientific evidence. An electronic literature search was carried out from the year 2000 to December 2017, pre-selecting 1,573 articles, 40 of which were analyzed and discussed. The results indicate that mutations in 12 genes are responsible for syndromic AI: DLX3, COL17A1, LAMA3, LAMB3, FAM20A, TP63, CNNM4, ROGDI, LTBP3, FAM20C, CLDN16, CLDN19. These genes participate in the coding of proteins involved in phosphorylation, ion exchange, and production and degradation of the constituent elements of the mineral and organic phase of tooth enamel. The scientific evidence confirms that AI can be part of the syndrome and requires special attention from the medical-dental community. |
| first_indexed | 2024-12-17T05:21:40Z |
| format | Article |
| id | doaj.art-005c6598ce64485a97ba97848ed54b91 |
| institution | Directory Open Access Journal |
| issn | 0121-246X 2145-7670 |
| language | English |
| last_indexed | 2024-12-17T05:21:40Z |
| publishDate | 2019-10-01 |
| publisher | Universidad de Antioquia |
| record_format | Article |
| series | Revista Facultad de Odontología Universidad de Antioquia |
| spelling | doaj.art-005c6598ce64485a97ba97848ed54b912022-12-21T22:01:58ZengUniversidad de AntioquiaRevista Facultad de Odontología Universidad de Antioquia0121-246X2145-76702019-10-01302236247https://doi.org/10.17533/udea.rfo.v30n2a9Genes involved in amelogenesis imperfecta. Part IIVíctor Hugo Simancas-Escorcia0Alfredo Enrique Natera-Guarapo1María Gabriela Acosta-de Camargo2Université Paris Diderot-Universidad de CartagenaUniversidad Central de VenezuelaUniversidad de CaraboboAmelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth enamel. AI may exist in isolation or associated with other systemic conditions as part of a syndromic AI. Our goal is to describe in detail the genes involved in syndromic AI, the proteins encoded by these genes, and their functions according to current scientific evidence. An electronic literature search was carried out from the year 2000 to December 2017, pre-selecting 1,573 articles, 40 of which were analyzed and discussed. The results indicate that mutations in 12 genes are responsible for syndromic AI: DLX3, COL17A1, LAMA3, LAMB3, FAM20A, TP63, CNNM4, ROGDI, LTBP3, FAM20C, CLDN16, CLDN19. These genes participate in the coding of proteins involved in phosphorylation, ion exchange, and production and degradation of the constituent elements of the mineral and organic phase of tooth enamel. The scientific evidence confirms that AI can be part of the syndrome and requires special attention from the medical-dental community.https://revistas.udea.edu.co/index.php/odont/article/view/339197/20794839amelogenesis imperfectatooth enameltooth enamel proteinsdental aestheticsgenessyndromeamelogénesis imperfectaesmalte dentalproteínas del esmalte dentalestética dentalsíndrome |
| spellingShingle | Víctor Hugo Simancas-Escorcia Alfredo Enrique Natera-Guarapo María Gabriela Acosta-de Camargo Genes involved in amelogenesis imperfecta. Part II Revista Facultad de Odontología Universidad de Antioquia amelogenesis imperfecta tooth enamel tooth enamel proteins dental aesthetics genes syndrome amelogénesis imperfecta esmalte dental proteínas del esmalte dental estética dental síndrome |
| title | Genes involved in amelogenesis imperfecta. Part II |
| title_full | Genes involved in amelogenesis imperfecta. Part II |
| title_fullStr | Genes involved in amelogenesis imperfecta. Part II |
| title_full_unstemmed | Genes involved in amelogenesis imperfecta. Part II |
| title_short | Genes involved in amelogenesis imperfecta. Part II |
| title_sort | genes involved in amelogenesis imperfecta part ii |
| topic | amelogenesis imperfecta tooth enamel tooth enamel proteins dental aesthetics genes syndrome amelogénesis imperfecta esmalte dental proteínas del esmalte dental estética dental síndrome |
| url | https://revistas.udea.edu.co/index.php/odont/article/view/339197/20794839 |
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