Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión
Resumen:
Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords “AMELX”, “amelogenin”, “amelogenesis imperfecta” and “AMELX mutation”. Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined.
| 2019 | |
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AMELX Amelogenina Amelogénesis imperfecta Mutación de AMELX |
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| Español | |
| Universidad de la República | |
| COLIBRI | |
| https://hdl.handle.net/20.500.12008/25977 | |
| Acceso abierto | |
| Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0) |
| _version_ | 1807522952619491328 |
|---|---|
| author | Tremillo-Maldonado, Omar |
| author2 | Molina-Frechero, Nelly González-González, Rogelio Bologna-Molina, Ronell |
| author2_role | author author author |
| author_facet | Tremillo-Maldonado, Omar Molina-Frechero, Nelly González-González, Rogelio Bologna-Molina, Ronell |
| author_role | author |
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| collection | COLIBRI |
| dc.contributor.filiacion.none.fl_str_mv | Tremillo-Maldonado Omar Molina-Frechero Nelly González-González Rogelio Bologna-Molina Ronell, Universidad de la República (Uruguay). Facultad de Odontología |
| dc.creator.none.fl_str_mv | Tremillo-Maldonado, Omar Molina-Frechero, Nelly González-González, Rogelio Bologna-Molina, Ronell |
| dc.date.accessioned.none.fl_str_mv | 2020-11-26T18:12:47Z |
| dc.date.available.none.fl_str_mv | 2020-11-26T18:12:47Z |
| dc.date.issued.none.fl_str_mv | 2019 |
| dc.description.abstract.none.fl_txt_mv | Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords “AMELX”, “amelogenin”, “amelogenesis imperfecta” and “AMELX mutation”. Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined. |
| dc.format.mimetype.es.fl_str_mv | application/pdf |
| dc.identifier.citation.es.fl_str_mv | Tremillo-Maldonado, O, Molina-Frechero, N, González-González, R y otros. "Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión". Gaceta Médica de México. [en línea] 2019 , no.155. Doi: 10 24875/GMM 18003604 |
| dc.identifier.doi.none.fl_str_mv | 10 24875/GMM 18003604 |
| dc.identifier.uri.none.fl_str_mv | https://hdl.handle.net/20.500.12008/25977 |
| dc.language.iso.none.fl_str_mv | es spa |
| dc.relation.ispartof.es.fl_str_mv | Gaceta Médica de México, 2019, no.155 |
| dc.rights.license.none.fl_str_mv | Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0) |
| dc.rights.none.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.source.none.fl_str_mv | reponame:COLIBRI instname:Universidad de la República instacron:Universidad de la República |
| dc.subject.es.fl_str_mv | AMELX Amelogenina Amelogénesis imperfecta Mutación de AMELX |
| dc.title.none.fl_str_mv | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| dc.type.es.fl_str_mv | Artículo |
| dc.type.none.fl_str_mv | info:eu-repo/semantics/article |
| dc.type.version.none.fl_str_mv | info:eu-repo/semantics/publishedVersion |
| description | Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords “AMELX”, “amelogenin”, “amelogenesis imperfecta” and “AMELX mutation”. Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | COLIBRI_951339f23c86c1b1871caae45f8e4362 |
| identifier_str_mv | Tremillo-Maldonado, O, Molina-Frechero, N, González-González, R y otros. "Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión". Gaceta Médica de México. [en línea] 2019 , no.155. Doi: 10 24875/GMM 18003604 10 24875/GMM 18003604 |
| instacron_str | Universidad de la República |
| institution | Universidad de la República |
| instname_str | Universidad de la República |
| language | spa |
| language_invalid_str_mv | es |
| network_acronym_str | COLIBRI |
| network_name_str | COLIBRI |
| oai_identifier_str | oai:colibri.udelar.edu.uy:20.500.12008/25977 |
| publishDate | 2019 |
| reponame_str | COLIBRI |
| repository.mail.fl_str_mv | mabel.seroubian@seciu.edu.uy |
| repository.name.fl_str_mv | COLIBRI - Universidad de la República |
| repository_id_str | 4771 |
| rights_invalid_str_mv | Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0) |
| spelling | Tremillo-Maldonado OmarMolina-Frechero NellyGonzález-González RogelioBologna-Molina Ronell, Universidad de la República (Uruguay). Facultad de Odontología2020-11-26T18:12:47Z2020-11-26T18:12:47Z2019Tremillo-Maldonado, O, Molina-Frechero, N, González-González, R y otros. "Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión". Gaceta Médica de México. [en línea] 2019 , no.155. Doi: 10 24875/GMM 18003604https://hdl.handle.net/20.500.12008/2597710 24875/GMM 18003604Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords “AMELX”, “amelogenin”, “amelogenesis imperfecta” and “AMELX mutation”. Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined.Submitted by Luna Fabiana (fabiana.luna@fic.edu.uy) on 2020-11-26T18:12:12Z No. of bitstreams: 2 license_rdf: 23149 bytes, checksum: 1996b8461bc290aef6a27d78c67b6b52 (MD5) Alteration_of_the_AMELX 2019 parte1.pdf: 262378 bytes, checksum: f4a43dd91bfbff25b5cf1f7ea139b598 (MD5)Made available in DSpace by Luna Fabiana (fabiana.luna@fic.edu.uy) on 2020-11-26T18:12:47Z (GMT). No. of bitstreams: 2 license_rdf: 23149 bytes, checksum: 1996b8461bc290aef6a27d78c67b6b52 (MD5) Alteration_of_the_AMELX 2019 parte1.pdf: 262378 bytes, checksum: f4a43dd91bfbff25b5cf1f7ea139b598 (MD5) Previous issue date: 2019application/pdfesspaGaceta Médica de México, 2019, no.155Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)info:eu-repo/semantics/openAccessLicencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0)AMELXAmelogeninaAmelogénesis imperfectaMutación de AMELXAlteración del gen AMELX en amelogénesis imperfecta. 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| spellingShingle | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión Tremillo-Maldonado, Omar AMELX Amelogenina Amelogénesis imperfecta Mutación de AMELX |
| status_str | publishedVersion |
| title | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| title_full | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| title_fullStr | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| title_full_unstemmed | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| title_short | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| title_sort | Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión |
| topic | AMELX Amelogenina Amelogénesis imperfecta Mutación de AMELX |
| url | https://hdl.handle.net/20.500.12008/25977 |
