Article
Live-cell imaging reveals decreased cAMP in a PFE-associated c.1050-3C>G PTH1R cell model.
Journal of molecular medicine (Berlin, Germany) - 20 Apr 2026
Marnet K, Subramanian H, Wiesler M, Borst A, Liedtke D, Pattappa G, Docheva D, Nikolaev V O, Stellzig-Eisenhauer A, Eigenthaler M, Herrmann M
Abstract excerpt
Primary failure of eruption (PFE) is a rare autosomal disorder provoked by heterozygous mutations in the parathyroid hormone receptor 1 (PTH1R) gene. PTH1R is a G protein-coupled receptor (GPCR) which regulates intracellular signaling molecules like cAMP. By using CRISPR/Cas9, the pathogenic PTH1R variant, c.1050-3C>G, was introduced into the periodontal ligament (PDL-hTERT) cell line to investigate molecular...
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