Article
Dental malformations associated with biallelic MMP20 mutations.
Molecular genetics & genomic medicine - 1 Aug 2020
Wang Shih-Kai, Zhang Hong, Chavez Michael B, Hu Yuanyuan, Seymen Figen, Koruyucu Mine, Kasimoglu Yelda, Colvin Connor D, Kolli Tamara N, Tan Michelle H, Wang Yin-Lin, Lu Pei-Ying, Kim Jung-Wook, Foster Brian L, Bartlett John D, Simmer James P, Hu Jan C-C
Abstract excerpt
BACKGROUND: Matrix metallopeptidase 20 (MMP20) is an evolutionarily conserved protease that is essential for processing enamel matrix proteins during dental enamel formation. MMP20 mutations cause human autosomal recessive pigmented hypomaturation-type amelogenesis imperfecta (AI2A2; OMIM #612529). MMP20 is expressed in both odontoblasts and ameloblasts, but its function during dentinogenesis is unclear. METHODS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.