Article
Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
Cells, tissues, organs - 1 Jan 2009
Wright J Timothy, Hart Thomas C, Hart P Suzanne, Simmons Darrin, Suggs Cynthia, Daley Bill, Simmer Jim, Hu Jan, Bartlett John D, Li Yong, Yuan Zhi-An, Seow W Kim, Gibson Carolyn W
Abstract excerpt
Amelogenesis imperfecta (AI) is caused by AMEL, ENAM, MMP20 and KLK4 gene mutations. Mice lacking expression of the AmelX, Enam and Mmp20 genes have been generated. These mouse models provide tools for understanding enamel formation and AI pathogenesis. This study describes the AI phenotypes and relates them to their mouse model counterparts. Human AI phenotypes were determined in a clinical population of AI...
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