ArticleAmerican journal of human genetics2016
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 72 citations in OpenAlex.
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- KMT2D Regulates Tooth Enamel Development.Journal of dental research · 2025Article
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- Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.PloS one · 2025Article
- KMT2D regulates tooth enamel development.bioRxiv : the preprint server for biology · 2024Article
- Recent advances in acid sensing by G protein coupled receptors.Pflugers Archiv : European journal of physiology · 2024Review
- Role of pH-sensing receptors in colitis.Pflugers Archiv : European journal of physiology · 2024Review
- The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.Scientific reports · 2024Article
- Proton Sensing GPCR's: The missing link to Warburg's Oncogenic Legacy?Journal of cancer biology · 2024Article
- A novelJournal of dental sciences · 2024Article
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- Review
- NovelJournal of personalized medicine · 2023Article
- Article
- Association between Downstream Taste Signaling Genes, Oral Microbiome, and Severe Early Childhood Caries.International journal of molecular sciences · 2022Article
- Article
- Physiological relevance of proton-activated GPCRs.Pflugers Archiv : European journal of physiology · 2022Review
- Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.Scientific reports · 2022Article
- NovelJournal of personalized medicine · 2022Article
- Expression of GPR68, an Acid-Sensing Orphan G Protein-Coupled Receptor, in Breast Cancer.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
20 authors at 9 institutions in 6 countries.
Funding
Abstract
Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the pH of the developing enamel matrix. The means by which the enamel organ regulates pH during amelogenesis is largely unknown. We identified rare homozygous variants in GPR68 in three families with amelogenesis imperfecta, a genetically and phenotypically heterogeneous group of inherited conditions associated with abnormal enamel formation. Each of these homozygous variants (a large in-frame deletion, a frameshift deletion, and a missense variant) were predicted to result in loss of function. GPR68 encodes a proton-sensing G-protein-coupled receptor with sensitivity in the pH range that occurs in the developing enamel matrix during amelogenesis. Immunohistochemistry of rat mandibles confirmed localization of GPR68 in the enamel organ at all stages of amelogenesis. Our data identify a role for GPR68 as a proton sensor that is required for proper enamel formation.
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