Carpenter, T. O., Imel, E. A., Holm, I. A., Jan de Beur, S. M. & Insogna, K. L. A clinician’s guide to X-linked hypophosphatemia. J. Bone Min. Res 26, 1381–1388 (2011).
Liu, S., Tang, W., Zhou, J., Vierthaler, L. & Quarles, L. D. Distinct roles for intrinsic osteocyte abnormalities and systemic factors in regulation of FGF23 and bone mineralization in Hyp mice. Am. J. Physiol. Endocrinol. Metab. 293, E1636–E1644 (2007).
Zhang, H. et al. Dentoalveolar Defects in the Hyp Mouse Model of X-linked Hypophosphatemia. J. Dent. Res 99, 419–428 (2020).
Article PubMed PubMed Central Google Scholar
Martin, A. et al. Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling. FASEB J. 25, 2551–2562 (2011).
Article PubMed PubMed Central Google Scholar
Martin, A. et al. Overexpression of the DMP1 C-terminal fragment stimulates FGF23 and exacerbates the hypophosphatemic rickets phenotype in Hyp mice. Mol. Endocrinol. 26, 1883–1895 (2012).
Article PubMed PubMed Central Google Scholar
Boukpessi, T. et al. Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia. Bone 95, 151–161 (2017).
Barros, N. M. et al. Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia. J. Bone Min. Res 28, 688–699 (2013).
Hoac, B. et al. Genetic Ablation of Osteopontin in Osteomalacic Hyp Mice Partially Rescues the Deficient Mineralization Without Correcting Hypophosphatemia. J. Bone Miner. Res. 35, 2032–2048 (2020).
Hanisch, M., Bohner, L., Sabandal, M. M. I., Kleinheinz, J. & Jung, S. Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia. Head. Face Med. 15, 8 (2019).
Article PubMed PubMed Central Google Scholar
Skrinar, A. et al. The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey. J. Endocr. Soc. 3, 1321–1334 (2019).
Article PubMed PubMed Central Google Scholar
Biosse Duplan, M. et al. Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia. J. Dent. Res 96, 388–395 (2017).
Foster, B. L., Nociti, F. H. Jr & Somerman, M. J. The rachitic tooth. Endocr. Rev. 35, 1–34 (2014).
Fong, H. et al. Aberrant cementum phenotype associated with the hypophosphatemic hyp mouse. J. Periodontol. 80, 1348–1354 (2009).
Article PubMed PubMed Central Google Scholar
Li, X. et al. Targeted deletion of the sclerostin gene in mice results in increased bone formation and bone strength. J. Bone Miner. Res. 23, 860–869 (2008).
Kuchler, U. et al. Dental and periodontal phenotype in sclerostin knockout mice. Int J. Oral. Sci. 6, 70–76 (2014).
Article PubMed PubMed Central Google Scholar
van Bezooijen, R. L. et al. Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist. J. Exp. Med. 199, 805–814 (2004).
Article PubMed PubMed Central Google Scholar
Lehnen, S. D., Götz, W., Baxmann, M. & Jäger, A. Immunohistochemical evidence for sclerostin during cementogenesis in mice. Ann. Anat. 194, 415–421 (2012).
Jager, A., Gotz, W., Lossdorfer, S. & Rath-Deschner, B. Localization of SOST/sclerostin in cementocytes in vivo and in mineralizing periodontal ligament cells in vitro. J. Periodontal. Res 45, 246–254 (2010).
Nam, Y. S. et al. Sclerostin in periodontal ligament: Homeostatic regulator in biophysical force-induced tooth movement. J. Clin. Periodontol. 49, 932–944 (2022).
Carpenter, K. A. et al. Sclerostin antibody improves phosphate metabolism hormones, bone formation rates, and bone mass in adult Hyp mice. Bone 154, 116201 (2021).
Article PubMed PubMed Central Google Scholar
Carpenter, K. A. & Ross, R. D. Sclerostin Antibody Treatment Increases Bone Mass and Normalizes Circulating Phosphate Levels in Growing Hyp Mice. J. Bone Min. Res 35, 596–607 (2020).
McKee, M. D. & Nanci, A. Osteopontin: an interfacial extracellular matrix protein in mineralized tissues. Connect Tissue Res 35, 197–205 (1996).
George, A., Guirado, E. & Chen, Y. in Biomineralization. (eds K Endo, T Kogure & H Nagasawa) 137–145 (Springer Singapore).
Lira dos Santos, E. J. et al. Effects of Active Vitamin D or FGF23 Antibody on Hyp Mice Dentoalveolar Tissues. J. Dent. Res. 100, 1482–1491 (2021).
Article PubMed PubMed Central Google Scholar
Imel, E. A. et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet 393, 2416–2427 (2019).
Article PubMed PubMed Central Google Scholar
Gadion, M. et al. Burosumab and Dental Abscesses in Children With X-Linked Hypophosphatemia. JBMR 6, e10672 (2022).
Ward, L. M. et al. Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia. J. Clin. Endocrinol. Metab. 107, e3241–e3253 (2022).
Article PubMed PubMed Central Google Scholar
Eicher, E. M., Southard, J. L., Scriver, C. R. & Glorieux, F. H. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc. Natl Acad. Sci. USA 73, 4667–4671 (1976).
Article PubMed PubMed Central Google Scholar
Coyac, B. R. et al. Tissue-specific mineralization defects in the periodontium of the Hyp mouse model of X-linked hypophosphatemia. Bone 103, 334–346 (2017).
Chaussain-Miller, C. et al. Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment. Oral. Dis. 13, 482–489 (2007).
Goodman, J. R., Gelbier, M. J., Bennett, J. H. & Winter, G. B. Dental problems associated with hypophosphataemic vitamin D resistant rickets. Int J. Paediatr. Dent. 8, 19–28 (1998).
Ye, L., Liu, R., White, N., Alon, U. S. & Cobb, C. M. Periodontal status of patients with hypophosphatemic rickets: a case series. J. Periodontol. 82, 1530–1535 (2011).
Virdi, A. S. et al. Sclerostin antibody treatment improves implant fixation in a model of severe osteoporosis. J. Bone Jt. Surg. Am. 97, 133–140 (2015).
El-Tanani, M., Platt-Higgins, A., Rudland, P. S. & Campbell, F. C. Ets gene PEA3 cooperates with beta-catenin-Lef-1 and c-Jun in regulation of osteopontin transcription. J. Biol. Chem. 279, 20794–20806 (2004).
Friedman, M. S., Oyserman, S. M. & Hankenson, K. D. Wnt11 promotes osteoblast maturation and mineralization through R-spondin 2. J. Biol. Chem. 284, 14117–14125 (2009).
Article PubMed PubMed Central Google Scholar
Tokavanich, N., Wein, M. N., English, J. D., Ono, N. & Ono, W. The Role of Wnt Signaling in Postnatal Tooth Root Development. Front. Dent. Med. 2, 769134 (2021)
Jarvinen, E., Shimomura-Kuroki, J., Balic, A., Jussila, M. & Thesleff, I. Mesenchymal Wnt/beta-catenin signaling limits tooth number. Development 145, (2018)
Kim, T. H. et al. Col1a1-cre mediated activation of β-catenin leads to aberrant dento-alveolar complex formation. Anat. Cell Biol. 45, 193–202 (2012).
Article PubMed PubMed Central Google Scholar
Kim, T. H. et al. Constitutive stabilization of ß-catenin in the dental mesenchyme leads to excessive dentin and cementum formation. Biochem Biophys. Res Commun. 412, 549–555 (2011).
Ren, Y. et al. Sclerostin antibody (Scl-Ab) improves osteomalacia phenotype in dentin matrix protein 1(Dmp1) knockout mice with little impact on serum levels of phosphorus and FGF23. Matrix Biol. 52-54, 151–161 (2016).
Ryan, Z. C. et al. Sclerostin alters serum vitamin D metabolite and fibroblast growth factor 23 concentrations and the urinary excretion of calcium. Proc. Natl Acad. Sci. USA 110, 6199–6204 (2013).
Article PubMed PubMed Central Google Scholar
Hawley, S. et al. Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis. J. Clin. Endocrinol. Metab. 105, e871–e878 (2020).
Laurent, M. R. et al. Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium. Front. Endocrinol. 12, 641543 (2021).
Rafaelsen, S., Johansson, S., Ræder, H. & Bjerknes, R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur. J. Endocrinol. 174, 125–136 (2016).
Larsson, A. et al. Dental health of patients with X-linked hypophosphatemia: A controlled study. Front Oral. Health
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