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2)Hori M, Shimizu Y, Fukumoto S. Minireview: fibroblast growth factor 23 in phosphate homeostasis and bone metabolism. Endocrinology. 2011; 152: 4-10
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4)ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000; 26: 345-8
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5)Feng JQ, Ward LM, Liu S, et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006; 38: 1310-5
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6)Levy-Litan V, Hershkovitz E, Avizov L, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010; 86: 273-8
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7)Lorenz-Depiereux B, Bastepe M, Benet-Pages A, et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006; 38: 1248-50
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8)Lorenz-Depiereux B, Schnabel D, Tiosano D, et al. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010; 86: 267-72
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9)The HYP Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet. 1995; 11: 130-6
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10)Feng JQ, Clinkenbeard EL, Yuan B, et al. Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia. Bone. 2013; 54: 213-21
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11)Yuan B, Feng JQ, Bowman S, et al. Hexa-D-arginine treatment increases 7B2・PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype. J Bone Miner Res. 2013; 28: 56-72
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12)Riminucci M, Collins MT, Fedarko NS, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003; 112: 683-92
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13)Hoffman WH, Jueppner HW, Deyoung BR, et al. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A. 2005; 134: 233-6
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14)Brown WW, Juppner H, Langman CB, et al. Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansenʼs metaphyseal chondrodysplasia. J Clin Endocrinol Metab. 2009; 94: 17-20
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15)White KE, Cabral JM, Davis SI, et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005; 76: 361-7
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16)Schouten BJ, Hunt PJ, Livesey JH, et al. FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. J Clin Endocrinol Metab. 2009; 94: 2332-7
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17)Shimizu Y, Tada Y, Yamauchi M, et al. Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: another form of FGF23-related hypophosphatemia. Bone. 2009; 45: 814-6
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18)Wang SK, Samann AC, Hu JC, et al. FAM20C functions intracellularly within both ameloblasts and odontoblasts in vivo. J Bone Miner Res. 2013. in press
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19)Tagliabracci VS, Engel JL, Wen J, et al. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012; 336: 1150-3
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20)Simpson MA, Hsu R, Keir LS, et al. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet. 2007; 81: 906-12
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21)Wang X, Wang S, Li C, et al. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet. 2012; 8: e1002708
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22)Goetz R, Nakada Y, Hu MC, et al. Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation. Proc Natl Acad Sci U S A. 2010; 107: 407-12
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23)Wohrle S, Bonny O, Beluch N, et al. FGF receptors control vitamin D and phosphate homeo­stasis by mediating renal FGF-23 signaling and regulating FGF-23 expression in bone. J Bone Miner Res. 2011; 26: 2486-97
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24)Wohrle S, Henninger C, Bonny O, et al. Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets. J Bone Miner Res. 2013; 28: 899-911
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25)Wu AL, Feng B, Chen MZ, et al. Antibody-mediated activation of FGFR1 induces FGF23 production and hypophosphatemia. PLoS One. 2013; 8: e57322
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26)Ranch D, Zhang MY, Portale AA, et al. Fibroblast growth factor 23 regulates renal 1,25-dihydroxyvitamin D and phosphate metabolism via the MAP kinase signaling pathway in Hyp mice. J Bone Miner Res. 2011; 26: 1883-90
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27)Zhang MY, Ranch D, Pereira RC, et al. Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice. Endocrinology. 2012; 153: 1806-16
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28)Yamazaki Y, Tamada T, Kasai N, et al. Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23. J Bone Miner Res. 2008; 23: 1509-18
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29)Aono Y, Hasegawa H, Yamazaki Y, et al. Anti-FGF-23 neutralizing antibodies ameliorate muscle weakness and decreased spontaneous movement of Hyp mice. J Bone Miner Res. 2011; 26: 803-10
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30)Aono Y, Yamazaki Y, Yasutake J, et al. Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. J Bone Miner Res. 2009; 24: 1879-88
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