ReviewFrontiers in endocrinology2025
Human diseases caused by homozygous PTH1R mutations.
Review in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
3 citing papers in PubMed.
- Spatial control of parathyroid hormone receptor-1 signaling dictates ligand-specific biological outcomes.Signal transduction and targeted therapy · 2026Article
- A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- G protein-coupled receptor signaling in osteogenic bone mesenchymal stem/stromal cells.Frontiers in cell and developmental biology · 2026Review
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
The parathyroid hormone receptor type 1 (PTH1R) is a G protein-coupled receptor that mediates the actions of parathyroid hormone (PTH) in the regulation of blood calcium levels, as well as PTH-related protein (PTHrP) in the regulation of skeletal development. Severe loss-of-function homozygous mutations in PTH1R are incompatible with life as in Blomstrand's lethal chondrodysplasia, characterized by accelerated growth plate ossification. More recently, homozygous mutations located in the transmembrane helices, extracellular domains and C-tail of the PTH1R were identified in patients with milder conditions characterized by variable degrees of skeletal and mineral abnormalities. These include delayed ossification in Eiken syndrome, hypocalcemia in a pseudohypoparathyroidism-like disorder, and non-syndromic primary failure of tooth eruption; which is usually caused by heterozygous PTH1R mutations. Recent detailed pharmacologic characterization of these PTH1R mutants has revealed new insights into how even subtle perturbations in PTH1R function can result in disease.
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.