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Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry

Authordc.contributor.authorUrzúa Orellana, Blanca 
Authordc.contributor.authorOrtega Pinto, Ana es_CL
Authordc.contributor.authorMorales Bozo, Irene es_CL
Authordc.contributor.authorRojas Alcayaga, Gonzalo es_CL
Authordc.contributor.authorCifuentes Guzmán, Víctor es_CL
Admission datedc.date.accessioned2011-12-21T19:45:18Z
Available datedc.date.available2011-12-21T19:45:18Z
Publication datedc.date.issued2011
Cita de ítemdc.identifier.citationBiochem Genet (2011) 49:104–121es_CL
Identifierdc.identifier.otherDOI 10.1007/s10528-010-9392-6
Identifierdc.identifier.urihttp://repositorio.uchile.cl/handle/2250/123425
General notedc.descriptionArtículo de publicación ISIes_CL
Abstractdc.description.abstractAmelogenesis imperfecta is a group of genetic conditions that affect the structure and clinical appearance of tooth enamel. The types (hypoplastic, hypocalcified, and hypomature) are correlated with defects in different stages of the process of enamel synthesis. Autosomal dominant, recessive, and X-linked types have been previously described. These disorders are considered clinically and genetically heterogeneous in etiology, involving a variety of genes, such as AMELX, ENAM, DLX3, FAM83H, MMP-20, KLK4, and WDR72. The mutations identified within these causal genes explain less than half of all cases of amelogenesis imperfecta. Most of the candidate and causal genes currently identified encode proteins involved in enamel synthesis. We think it is necessary to refocus the search for candidate genes using biochemical processes. This review provides theoretical evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a new candidate gene.es_CL
Patrocinadordc.description.sponsorshipThis research has been supported by grants PRI-ODO 07/03 and FIOUCh 09-1 from the Faculty of Dentistry of the University of Chile.es_CL
Lenguagedc.language.isoenes_CL
Publisherdc.publisherSpringeres_CL
Keywordsdc.subjectMolecular geneticses_CL
Títulodc.titleDefining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistryes_CL
Document typedc.typeArtículo de revistaes_CL


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