Article
Mouse Dspp frameshift model of human dentinogenesis imperfecta.
Scientific reports - 19 Oct 2021
Liang Tian, Hu Yuanyuan, Zhang Hong, Xu Qian, Smith Charles E, Zhang Chuhua, Kim Jung-Wook, Wang Shih-Kai, Saunders Thomas L, Lu Yongbo, Hu Jan C-C, Simmer James P
Abstract excerpt
Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5' mutations affecting an N-terminal targeting sequence and 3' mutations that shift translation into the - 1 reading frame. DSPP defects cause an overlapping spectrum of phenotypes classified as dentin dysplasia type II and dentinogenesis imperfecta types...
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