ArticleNature genetics2006
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Article in Nature genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 242 papers, 2 of them syntheses 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.
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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.
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Who cites it
242 citing papers in PubMed, 2 syntheses or guidelines pooled it, 521 citations in OpenAlex.
- Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.Journal of the American Society of Nephrology : JASN · 2018Pooled it
- Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Journal of the American Society of Nephrology : JASN · 2014Pooled it
- FGF23 - A hormone produced by bone and has many faces.Reviews in endocrine & metabolic disorders · 2026Review
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- Article
- Fibroblast growth factor 23 at the crossroads of mineral metabolism and bone disease.Current opinion in nephrology and hypertension · 2026Review
- Hypophosphatemic rickets: diagnosis and treatment.Archives of endocrinology and metabolism · 2026Review
- New knock-in mouse linesJBMR plus · 2026Article
- SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease.Orphanet journal of rare diseases · 2026Article
- Expanding the Autosomal Recessive Hypophosphatemic Rickets Type I Carrier Phenotype and Adult Treatment with Burosumab.Calcified tissue international · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- Genetic background of infantile hypophosphatemia: a narrative review.Translational pediatrics · 2026Review
- Review
- Maternal excess dietary phosphate intake in the periconceptional period is a potential risk for mineral disorders in offspring mice.Scientific reports · 2025Article
- Isolation, Purification, Generation, and Culture of Osteocytes.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Hereditary Rickets: A Quick Guide for the Pediatrician.Current pediatric reviews · 2024Review
- Article
- Hematopoietic and stromal DMP1-Cre labeled cells form a unique niche in the bone marrow.Scientific reports · 2023Article
- X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2023Review
- Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.Current osteoporosis reports · 2023Review
182 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on byBone talk.2006
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Authors and funding
17 authors at 10 institutions in 5 countries.
Funding
Abstract
Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix protein 1), which encodes a non-collagenous bone matrix protein expressed in osteoblasts and osteocytes. Intact plasma levels of the phosphaturic protein FGF23 were clearly elevated in two of four affected individuals, providing a possible explanation for the phosphaturia and inappropriately normal 1,25(OH)2D levels and suggesting that DMP1 may regulate FGF23 expression.
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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.