ReviewBone2013
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.
Review in Bone, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 99 citations in OpenAlex.
- Light chain deposition disease masquerading as hypophosphatemic osteomalacia: a case report.Frontiers in medicine · 2026Article
- Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded.MedComm · 2025Review
- Fibroblast growth factor 23-mediated regulation of osteoporosis: Assessed via Mendelian randomization and in vitro study.Journal of cellular and molecular medicine · 2024Article
- Article
- The osteocyte and its osteoclastogenic potential.Frontiers in endocrinology · 2023Review
- Bone Turnover Markers and Bone Mineral Density in Children with Hypophosphatemic Rickets.Journal of clinical medicine · 2022Article
- The Emerging Role of Cell Transdifferentiation in Skeletal Development and Diseases.International journal of molecular sciences · 2022Review
- The osteocyte as a signaling cell.Physiological reviews · 2022Review
- Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Review
- Review
- A bedridden young lady with hypophosphatemic rickets treated with denosumab: a case report.Journal of medical case reports · 2021Article
- ScxBone · 2021Article
- X-Linked Hypophosphatemia: A New Era in Management.Journal of the Endocrine Society · 2020Review
- Increased FGF-23 levels are linked to ineffective erythropoiesis and impaired bone mineralization in myelodysplastic syndromes.JCI insight · 2020Article
- Fibroblast growth factors signaling in bone metastasis.Endocrine-related cancer · 2020Review
- Chondrogenesis Defines Future Skeletal Patterns Via Cell Transdifferentiation from Chondrocytes to Bone Cells.Current osteoporosis reports · 2020Review
- Article
- Multiscale bone quality analysis in osteoarthritic knee joints reveal a role of the mechanosensory osteocyte network in osteophytes.Scientific reports · 2020Article
- Developmental tuning of mineralization drives morphological diversity of gill cover bones in sculpins and their relatives.Evolution letters · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 1 country.
Funding
Abstract
Although recent studies have established that osteocytes function as secretory cells that regulate phosphate metabolism, the biomolecular mechanism(s) underlying these effects remain incompletely defined. However, investigations focusing on the pathogenesis of X-linked hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR), heritable disorders characterized by abnormal renal phosphate wasting and bone mineralization, have clearly implicated FGF23 as a central factor in osteocytes underlying renal phosphate wasting, documented new molecular pathways regulating FGF23 production, and revealed complementary abnormalities in osteocytes that regulate bone mineralization. The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events. These discoveries indicate that ADHR, XLH, and ARHR represent three related heritable hypophosphatemic diseases that arise from mutations in, or dysregulation of, a single common gene product, FGF23 and, in ARHR and XLH, complimentary DMP1 and PHEX directed events that contribute to abnormal bone mineralization.
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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 OpenQuestion graph.