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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Urzúa, Blanca Ortega-Pinto, Ana Morales-Bozo, Irene Rojas-Alcayaga, Gonzalo Cifuentes, Víctor |
| Description | Country affiliation: Chile Author Affiliation: Urzúa B ( Department of Physical and Chemical Sciences, Faculty of Dentistry, University of Chile, Santiago, Chile. brurzua@gmail.com) |
| Abstract | Amelogenesis 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. |
| File Format | HTM / HTML |
| ISSN | 00062928 |
| Issue Number | 1-2 |
| Volume Number | 49 |
| e-ISSN | 15734927 |
| Journal | Biochemical Genetics |
| Language | English |
| Publisher | Springer |
| Publisher Date | 2011-02-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Molecular Biology Amelogenesis Imperfecta Genetics Metabolism Bicarbonates Dental Enamel Sodium-bicarbonate Symporters Ameloblasts Amelogenesis Classification Physiopathology Animals Genetic Association Studies Genetic Heterogeneity Humans Hydrogen-ion Concentration Ion Transport Mice Mutation Rats Tooth Journal Article Research Support, Non-u.s. Gov't Review |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Medicine Biochemistry Molecular Biology Ecology, Evolution, Behavior and Systematics |
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