ReviewSeminars in nephrology2013
Insights from genetic disorders of phosphate homeostasis.
Review in Seminars in nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.Acta neurochirurgica · 2026Pooled it
- Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.International journal of molecular sciences · 2026Review
- Sox10 is required for systemic initiation of bone mineralization.Development (Cambridge, England) · 2025Article
- A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2019Article
- Genetics of Refractory Rickets: Identification of NovelJournal of pediatric genetics · 2018Review
- Phosphate-dependent FGF23 secretion is modulated by PiT2/Slc20a2.Molecular metabolism · 2018Article
- Pth4, an ancient parathyroid hormone lost in eutherian mammals, reveals a new brain-to-bone signaling pathway.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2017Article
- Key role of the kidney in the regulation of fibroblast growth factor 23.Kidney international · 2015Article
- Scientific Opinion on Dietary Reference Values for phosphorus.EFSA journal. European Food Safety Authority · 2015Article
- FGF23 is endogenously phosphorylated in bone cells.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
- Fibroblast growth factor 23 in acute kidney injury.Current opinion in nephrology and hypertension · 2014Review
- The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Italian journal of pediatrics · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The molecular identification and characterization of genetic defects leading to a number of rare inherited or acquired disorders affecting phosphate homeostasis has added tremendous detail to our understanding of the regulation of phosphate balance. The identification of the key phosphate-regulating hormone, fibroblast growth factor 23 (FGF23), as well as other molecules that control its production, such as the N-acetylgalactosaminyltransferase 3 GALNT3, the endopeptidase phosphate-regulating protein with homologies to endopeptidases on the X chromosome, and the matrix protein dentin matrix protein 1, and molecules that function as downstream effectors of FGF23, such as the longevity factor Klotho and the phosphate transporters NPT2a and NPT2c, has permitted us to understand the elegant and complex interplay that exists between the kidneys, bone, parathyroid, and gut. Such insights from genetic disorders have allowed not only the design of potent targeted therapies for some of these rare genetic disorders, such as using anti-FGF23 antibodies for treatment of X-linked hypophosphatemic rickets, but also have led to clinically relevant observations related to the dysregulation of mineral ion homeostasis in chronic kidney disease. Thus, we are able to leverage our knowledge of rare human disorders affecting only a few individuals, to understand and potentially treat disease processes that affect millions of patients.
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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.