Article
Functional Analysis of PTH1R Variants Found in Primary Failure of Eruption.
Journal of dental research - 1 Apr 2020
Izumida E, Suzawa T, Miyamoto Y, Yamada A, Otsu M, Saito T, Yamaguchi T, Nishimura K, Ohtaka M, Nakanishi M, Yoshimura K, Sasa K, Takimoto R, Uyama R, Shirota T, Maki K, Kamijo R
Abstract excerpt
Although many variants of the parathyroid hormone 1 receptor (PTH1R) gene are known to be associated with primary failure of eruption (PFE), the mechanisms underlying the link remains poorly understood. We here performed functional analyses of PTH1R variants reported in PFE patients-namely, 356C>T (P119L), 395C>T (P132L), 439C>T (R147C), and 1148G>A (R383Q)-using HeLa cells with a lentiviral vector-mediated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.