Article
AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.
Molecular genetics & genomic medicine - 1 Sept 2019
Liang Tian, Hu Yuanyuan, Smith Charles E, Richardson Amelia S, Zhang Hong, Yang Jie, Lin Brent, Wang Shih-Kai, Kim Jung-Wook, Chun Yong-Hee, Simmer James P, Hu Jan C-C
Abstract excerpt
BACKGROUND: Ameloblastin (AMBN) is a secreted matrix protein that is critical for the formation of dental enamel and is enamel-specific with respect to its essential functions. Biallelic AMBN defects cause non-syndromic autosomal recessive amelogenesis imperfecta. Homozygous Ambn mutant mice expressing an internally truncated AMBN protein deposit only a soft mineral crust on the surface of dentin. METHODS: We...
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