ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2020
An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 16 citations in OpenAlex.
- Development of an electrochemiluminescence-based bridging assay to detect antibodies against a PTH inverse agonist in human plasma.Bioanalysis · 2026Article
- Nf2 orchestrates β-arrestin2-biased PTH1R signaling to couple bone mass with skeletal integrity.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.The Journal of clinical endocrinology and metabolism · 2025Article
- Humanized mice to model rare human diseases.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Fast-diffusing receptor collisions with slow-diffusing peptide ligand assemble the ternary parathyroid hormone-GPCR-arrestin complex.Nature communications · 2024Article
- Ocular findings in Jansen metaphyseal chondrodysplasia.JBMR plus · 2024Article
- Backbone Modification Provides a Long-Acting Inverse Agonist of Pathogenic, Constitutively Active PTH1R Variants.Journal of the American Chemical Society · 2024Article
- Article
- Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome.Communications biology · 2023Article
- Actions of Parathyroid Hormone Ligand Analogues in Humanized PTH1R Knockin Mice.Endocrinology · 2022Article
- Genetic causes of neonatal and infantile hypercalcaemia.Pediatric nephrology (Berlin, Germany) · 2022Review
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Jansen's metaphyseal chondrodysplasia (JMC) is a rare disease of bone and mineral ion physiology that is caused by activating mutations in PTHR1. Ligand-independent signaling by the mutant receptors in cells of bone and kidney results in abnormal skeletal growth, excessive bone turnover, and chronic hypercalcemia and hyperphosphaturia. Clinical features further include short stature, limb deformities, nephrocalcinosis, and progressive losses in kidney function. There is no effective treatment option available for JMC. In previous cell-based assays, we found that certain N-terminally truncated PTH and PTHrP antagonist peptides function as inverse agonists and thus can reduce the high rates of basal cAMP signaling exhibited by the mutant PTHR1s of JMC in vitro. Here we explored whether one such inverse agonist ligand, [Leu
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