ArticlePloS one2013
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Primary failure of eruption (PFE): a systematic review.Head & face medicine · 2018Pooled it
- Biomarkers for Treatment Response in Orthodontics: Molecular Mechanisms, Clinical Utility, and Future Directions.International journal of molecular sciences · 2026Review
- 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
- Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants.Genes · 2026Review
- Quantitative LFQ-DIA proteomics reveals FTH1-MCM5/WNT axis mediated osteoblastic dysfunction via ferroptosis drives diabetic osteoporosis.Scientific reports · 2025Article
- A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway.Progress in orthodontics · 2025Article
- Human diseases caused by homozygous PTH1R mutations.Frontiers in endocrinology · 2025Review
- Evaluation of serum levels in children with delayed eruption.BMC oral health · 2024Article
- Etiological Mechanisms and Genetic/Biological Modulation Related to PTH1R in Primary Failure of Tooth Eruption.Calcified tissue international · 2024Review
- Article
- Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- Identification of a novel PTH1R variant in a family with primary failure of eruption.BMC oral health · 2023Article
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?Diagnostics (Basel, Switzerland) · 2022Article
- Primary failure of tooth eruption: Etiology and management.The Japanese dental science review · 2022Review
- Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.JBMR plus · 2022Article
- Teeth Eruption Disorders: A Critical Review.Children (Basel, Switzerland) · 2022Review
- Abnormal premolar eruption: classification, aetiology, and treatment based on a case series study.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2021Article
- A three-dimensional analysis of primary failure of eruption in humans and mice.Oral diseases · 2020Article
- Mesenchymal Progenitor Regulation of Tooth Eruption: A View from PTHrP.Journal of dental research · 2020Article
- Parathyroidectomy Resolves Tooth Discoloration: A New Presenting Sign of Hyperparathyroidism?Case reports in dentistry · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a PTH1R defect or not. We analyzed the PTH1R gene in six patients clinically diagnosed with PFE, all of which had undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A), or by altering correct mRNA splicing (c.544-26_544-23del and c.989G>T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all published PTH1R mutations and identified a mutational overlap between Blomstrand chondrodysplasia and PFE. The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption.
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