Article
Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.
Scientific reports - 5 Dec 2016
Mitsui Silvia Naomi, Yasue Akihiro, Masuda Kiyoshi, Naruto Takuya, Minegishi Yoshiyuki, Oyadomari Seiichi, Noji Sumihare, Imoto Issei, Tanaka Eiji
Abstract excerpt
Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1...
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