Article
In silico and functional evaluation of PTH1R mutations found in patients with primary failure of eruption (PFE).
Orthodontics & craniofacial research - 1 Jun 2017
Hendricks H M, Bencharit S, Seaman W, Frazier-Bowers S A
Abstract excerpt
OBJECTIVES: The genetic basis of PFE (OMIM ID: 125350) was interrogated using molecular functional studies. PFE is a disorder that results in a poor prognosis in the eruption of teeth and by extension, in treatment with a continuous archwire. We tested the hypothesis that PTH1R mutations result in loss of function due to altered protein structure to determine (i) the fate of a functional PTH1R mutation and (ii)...
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