Endocrine Regulation of Phosphate Homeostasis

Textbook of Nephro-Endocrinology

Volumn , Issue , 2009, Pages 105-126

  Jüppner, Harald ^a   Portale, Anthony A ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882538616     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-373870-7.00009-0     Document Type: Chapter

References (221)

1. Alcalde A.I., Sarasa M., Raldua D., et al. Role of thyroid hormone in regulation of renal phosphate transport in young and aged rats. Endocrinology 1999, 140:1544-1551.
2. Aono, Y., Shimada, T., Yamazaki, Y. et al. (2003). The neutralization of FGF-23 ameliorates hypophosphatemia and rickets in Hyp mice. Meeting of the American Society for Bone and Mineral Research, Minneapolis, Minnesota, p. 1056.
3. Arar M., Zajicek H.K., Elshihabi I., Levi M. Epidermal growth factor inhibits Na-Pi cotransport in weaned and suckling rats. Am J Physiol 1999, 276:F72-F78.
4. Araya K., Fukumoto S., et al. A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. J Clin Endocrinol Metab 2005, 90:5523-5527.
5. Arnaud S.B., Goldsmith R.S., Stickler G.B., McCall J.T., Arnaud C.D. Serum parathyroid hormone and blood minerals: interrelationships in normal children. Pediatr Res 1973, 7:485-493.
6. Azam N., Zhang M.Y., Wang X., Tenenhouse H.S., Portale A.A. Disordered regulation of renal 25-hydroxyvitamin D-1alpha-hydroxylase gene expression by phosphorus in X-linked hypophosphatemic (hyp) mice. Endocrinology 2003, 144:3463-3468.
7. Bacic D., Schulz N., Biber J., Kaissling B., Murer H., Wagner C.A. Involvement of the MAPK-kinase pathway in the PTH-mediated regulation of the proximal tubule type IIa Na+/Pi cotransporter in mouse kidney. Pflugers Arch 2003, 446:52-60.
8. Bacic D., Capuano P., Gisler S.M., et al. Impaired PTH-induced endocytotic down-regulation of the renal type IIa Na+/Pi-cotransporter in RAP-deficient mice with reduced megalin expression. Pflugers Arch 2003, 446:475-484.
9. Bai X.Y., Miao D., Goltzman D., Karaplis A.C. The autosomal dominant hypophosphatemic rickets R176Q mutation in FGF23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem 2003, 278:9843-9849.
10. Bai X., Miao D., Li J., Goltzman D., Karaplis A. Transgenic mice overexpressing human fibroblast growth factor 23(R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology 2004, 145:5269-5279.
11. Barac-Nieto M., Alfred M., Spitzer A. Basolateral phosphate transport in renal proximal-tubule-like OK cells. Exp Biol Med (Maywood) 2002, 227:626-631.
12. Bastepe M., Jüppner H. The GNAS locus and pseudohypoparathyroidism. Hormone Res 2005, 63:65-74.
13. Bastepe M., Shlossberg H., Murdock H., Jüppner H., Rittmaster R. A Lebanese family with osteosclerosis and hypophosphatemia. J Bone Miner Res 1999, 14:S558.
14. Bastepe M., Lane A.H., Jüppner H. Paternal uniparental isodisomy of chromosome 20q (patUPD20q) - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 2001, 68:1283-1289.
15. Bastepe M., Pincus J.E., Sugimoto T., et al. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet 2001, 10:1231-1241.
16. Bastepe M., Fröhlich L.F., Hendy G.N., et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 2003, 112:1255-1263.
17. Bastepe M., Fröhlich L.F., Linglart A., et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 2005, 37:25-27.
18. Baxter L.A., DeLuca H.F. Stimulation of 25-hydroxyvitamin D3-1alpha-hydroxylase by phosphate depletion. J Biol Chem 1976, 251:3158-3161.
19. Beck L., Karaplis A.C., Amizuka N., Hewson A.S., Ozawa H., Tenenhouse H.S. Targeted inactivation of Ntp2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci USA 1998, 95:5372-5377.
20. Beighton P. Osteoglophonic dysplasia. J Med Genet 1989, 26:572-576.
21. Benet-Pages A., Lorenz-Depiereux B., Zischka H., White K., Econs M., Strom T. FGF23 is processed by proprotein convertases but not by PHEX. Bone 2004, 35:455-462.
22. Bergwitz, C., Roslin, N., Tieder, M. et al. (2006). SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) predict a key role for the sodium-phosphate co-transporter NaPi-IIc in maintaining phosphate homeostasis and skeletal function. Am J Human Genet78: 179-192.
23. Berndt, T., Bielesz, B., Craig, T. et al. (2005). Secreted frizzled-related protein-4 reduces sodium-phosphate co-transporter abundance and activity in proximal tubule cells. Pflugers Arch. Epub ahead of print.
24. Bianchine J.W., Stambler A.A., Harrison H.E. Familial hypophosphatemic rickets showing autosomal dominant inheritance. Birth Defects Orig Artic Ser 1971, 7:287-295.
25. Bijvoet O. The importance of the kidney in phosphate homeostasis. Phosphate metabolism, kidney and bone 1976, Armour-Montagu, Paris. L. Avioli, P. Bordier, H. Fleisch, S. Massry, E. Slatopolsky (Eds.).
26. Blaine, J., Breusegem, S., Giral, H., Barry, N., and Levi, M. (2007). Differential regulation of renal NaPiIIa and NaPi-IIc trafficking by PTH. Renal Week, ASN, San Francisco, pp. SA-FC103.
27. Bowe A., Finnegan R., Jan de Beur S., et al. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 2001, 284:977-981.
28. Carpenter, T., Ellis, B., Insogna, K., Philbrick, W., Sterpka, J., and Shimkets, R. (2004) FGF7 - an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors. J Clin Endocrinol Metab90: 1012-1020.
29. Chefetz I., Amitai D.B., Browning S., et al. Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol 2008, 128:1423-1429.
30. Collins J.F., Bai L., Ghishan F.K. The SLC20 family of proteins: dual functions as sodium-phosphate cotransporters and viral receptors. Pflugers Arch 2004, 447:647-652.
31. Consortium A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet 1995, 11:130-136.
32. Custer M., Meier F., Schlatter E., et al. Localization of NaPi-1, a Na-Pi cotransporter, in rabbit kidney proximal tubules. I. mRNA localization by reverse transcription/polymerase chain reaction. Pflugers Arch 1993, 424:203-209.
33. Davies A.J., Hughes H.E. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993, 30:101-103.
34. Delvin E.E., Glorieux F.H. Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets. Calcif Tissue Int 1981, 33:173-175.
35. Demay M.B., Sabbagh Y., Carpenter T.O. Calcium and vitamin D: what is known about the effects on growing bone. Pediatrics 2007, 119(Suppl 2):S141-S144.
36. Drezner M.K. Phosphorus homeostasis and related disorders. Principles in bone biology 2002, 321-338. Academic Press, New York. 2nd edn. J.P. Bilezikian, L.G. Raisz, G.A. Rodan (Eds.).
37. Econs M., Drezner M. Tumor-induced osteomalacia - unveiling a new hormone. N Engl J Med 1994, 330:1679-1681.
38. Econs M., McEnery P. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 1997, 82:674-681.
39. Econs M., McEnery P., Lennon F., Speer M. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J Clin Invest 1997, 100:2653-2657.
40. Farrow E., Davis S., Mooney S., et al. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Am J Med Genet 2006, 140:537-539.
41. Feng J.Q., Ward L.M., Liu S., et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 2006, 38:1310-1315.
42. Feng J.Q., Scott G., Guo D., et al. Generation of a conditional null allele for Dmp1 in mouse. Genesis 2008, 46:87-91.
43. Forster I.C., Loo D.D., Eskandari S. Stoichiometry and Na+ binding cooperativity of rat and flounder renal type II Na+-Pi cotransporters. Am J Physiol 1999, 276:F644-F649.
44. Forster I.C., Hernando N., Biber J., Murer H. Proximal tubular handling of phosphate: a molecular perspective. Kidney Int 2006, 70:1548-1559.
45. Frishberg Y., Araya K., Rinat C., et al. Hyperostosis-hyperphosphatemia syndrome caused by mutations in GALNT3 and associated with augmented processing of FGF-23 2004, American Society of Nephrology, Philadelphia, pp. F-P0937.
46. Gardella T.J., Jüppner H., Bringhurst F.R., Potts J.T. Receptors for parathyroid hormone (PTH) and PTH-related peptide. Principles of bone biology 2002, 389-405. Academic Press, San Diego. J. Bilezikian, L. Raisz, G. Rodan (Eds.).
47. George A., Sabsay B., Simonian P.A., Veis A. Characterization of a novel dentin matrix acidic phosphoprotein. Implications for induction of biomineralization. J Biol Chem 1993, 268:12624-12630.
48. George A., Ramachandran A., Albazzaz M., Ravindran S. DMP1 - a key regulator in mineralized matrix formation. J Musculoskelet Neuronal Interact 2007, 7:308.
49. Giles M.M., Fenton M.H., Shaw B., et al. Sequential calcium and phosphorus balance studies in preterm infants. J Pediatr 1987, 110:591-598.
50. Gray R.W. Control of plasma 1, 25-(OH)2-vitamin D concentrations by calcium and phosphorus in the rat: effects of hypophysectomy. Calcif Tissue Int 1981, 33:485-488.
51. Gray R.W., Garthwaite T.L. Activation of renal 1,25-dihydroxyvitamin D3 synthesis by phosphate deprivation: evidence for a role for growth hormone. Endocrinology 1985, 116:189-193.
52. Gray R.W., Napoli J.L. Dietary phosphate deprivation increases 1,25-dihyroxyvitamin D3 synthesis in rat kidney in vitro. J Biol Chem 1983, 258:1152-1155.
53. Gray R.W., Wilz D.R., Caldas A.E., Lemann J. The importance of phosphate in regulating plasma 1, 25-(OH)2-vitamin D levels in humans: studies in healthy subjects in calcium-stone formers and in patients with primary hyperparathyroidism. J Clin Endocrinol Metab 1977, 45:299-306.
54. Gray R.W., Garthwaite T.L., Phillips L.S. Growth hormone and triiodothyronine permit an increase in plasma 1,25(OH)2D concentrations in response to dietary phosphate deprivation in hypophysectomized rats. Calcif Tissue Int 1983, 35:100-106.
55. Greenberg B.G., Winters R.W., Graham J.B. The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia. J Clin Endocrinol Metab 1960, 20:364-379.
56. Grieff M., Zhong M., Finch J., Ritter C.S., Slatopolsky E., Brown A.J. Renal calcitriol synthesis and serum phosphorus in response to dietary phosphorus restriction and anabolic agents. Am J Kidney Dis 1996, 28:589-595.
57. Gupta A., Tenenhouse H.S., Hoag H.M., et al. Identification of the type II Na(+)-Pi cotransporter (Npt2) in the osteoclast and the skeletal phenotype of Npt2-/- mice. Bone 2001, 29:467-476.
58. Gutierrez O., Isakova T., Rhee E., et al. Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease: New insight into secondary hyperparathyroidism. J Am Soc Nephrol 2005, 16:2205-2215.
59. Hafdi Z., Couette S., Comoy E., Prie D., Amiel C., Friedlander G. Locally formed 5-hydroxytryptamine stimulates phosphate transport in cultured opossum kidney cells and in rat kidney. Biochem J 1996, 320:615-621.
60. Halloran B.P., Spencer E.M. Dietary phosphorus and 1,25-dihydroxyvitamin D metabolism: influence of insulin-like growth factor I. Endocrinology 1988, 123:1225-1229.
61. Hartmann C.M., Hewson A.S., Kos C.H., et al. Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2). Proc Natl Acad Sci USA 1996, 93:7409-7414.
62. Heike C., Cunningham M., Steiner R., et al. Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?. Am J Med Genet A 2005, 139:67-77.
63. Hesse E., Moessinger E., Rosenthal H., et al. Oncogenic osteomalacia: exact tumor localization by co-registration of positron emission and computed tomography. J Bone Miner Res 2007, 22:158-162.
64. Hesse E., Rosenthal H., Bastian L. Radiofrequency ablation of a tumor causing oncogenic osteomalacia. N Engl J Med 2007, 357:422-424.
65. Hoag H.M., Martel J., Gauthier C., Tenenhouse H.S. Effects of Npt2 gene ablation and low-phosphate diet on renal Na(+)/phosphate cotransport and cotransporter gene expression. J Clin Invest 1999, 104:679-686.
66. Hoffman W., Jüppner H., Deyoung B., O'dorisio M., Given K. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A 2005, 134:233-236.
67. Holick M.F. Vitamin D deficiency. N Engl J Med 2007, 357:266-281.
68. Holm I.A., Huang X., Kunkel L.M. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 1997, 60:790-797.
69. Holm I.A., Econs M.J., Carpenter T.O. Familial hypophosphatemia and related disorders. Pediatric Bone: Biology and Diseases 2003, 603-631. Academic Press, San Diego. F.H. Glorieux, J.M. Pettifor, H. Jüppner (Eds.).
70. Hughes M.R., Brumbaugh P.F., Hussler M.R., Wergedal J.E., Baylink D.J. Regulation of serum 1alpha,25-dihydroxyvitamin D3 by calcium and phosphate in the rat. Science 1975, 190:578-580.
71. Ichikawa S., Lyles K., Econs M. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 2005, 90:2420-2423.
72. Ichikawa S., Sorenson A.H., Imel E.A., Friedman N.E., Gertner J.M., Econs M.J. Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 2006, 91:4022-4027.
73. Ichikawa S., Imel E.A., Kreiter M.L., et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007, 117:2684-2691.
74. Imanishi Y., Inaba M., Nakatsuka K., et al. FGF-23 in patients with end-stage renal disease on hemodialysis. Kidney Int 2004, 65:1943-1946.
75. Imel E., Peacock M., Pitukcheewanont P., et al. Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J Clin Endocrinol Metab 2006, 91:2055-2061.
76. Imel, E. A., Hui, S. L., and Econs, M. J. (2007). FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Mineral Res22: 520-526.
77. Insogna K.L., Broadus A.E., Gertner J.M. Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. J Clin Invest 1983, 71:1562-1569.
78. Jan de Beur S.M., Levine M.A. Pseudohypoparathyroidism: clinical, biochemical, and molecular features. The parathyroids: basic and clinical concepts 2001, 807-825. Academic Press, New York. J.P. Bilezikian, R. Markus, M.A. Levine (Eds.).
79. Jan de Beur S., Finnegan R., Vassiliadis J., et al. Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism. J Bone Min Res 2002, 17:1102-1110.
80. Jankowski M., Hilfiker H., Biber J., Murer H. The opossum kidney cell type IIa Na/P(i) cotransporter is a phosphoprotein. Kidney Blood Press Res 2001, 24:1-4.
81. John M., Wickert H., Zaar K., et al. A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusidal malignant schwannoma. Bone 2001, 29:393-402.
82. Jones A., Tzenova J., Frappier D., et al. Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. J Am Soc Nephrol 2001, 12:507-514.
83. Jonsson K., Zahradnik R., Larsson T., et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003, 348:1656-1662.
84. Jüppner H., Thakker R. Genetic disorders of calcium and phosphate homeostasis. The kidney 2008, W.B. Saunders Company, Philadelphia. M. Pollak (Ed.).
85. Jüppner H., Gardella T., Brown E., Kronenberg H., Potts J. Parathyroid hormone and parathyroid hormone-related peptide in the regulation of calcium homeostasis and bone development. Endocrinology 2005, 1377-1417. W.B. Saunders Company, Philadelphia. 5th edn. L. DeGroot, J. Jameson (Eds.).
86. Kato Y., Arakawa E., Kinoshita S., et al. Establishment of the anti-Klotho monoclonal antibodies and detection of Klotho protein in kidneys. Biochem Biophys Res Commun 2000, 267:597-602.
87. Kato K., Jeanneau C., Tarp M., et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006, 281:18370-18377.
88. Kavanaugh M.P., Miller D.G., Zhang W., et al. Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci USA 1994, 91:7071-7075.
89. Keating F.R., Jones J.D., Elveback L.R., Randall R.V. The relation of age and sex to distribution of values in healthy adults of serum calcium, inorganic phosphorus, magnesium, alkaline phosphatase, total proteins, albumin, and blood urea. J Lab Clin Med 1969, 73:825-834.
90. Kempson S.A., Lotscher M., Kaissling B., Biber J., Murer H., Levi M. Parathyroid hormone action on phosphate transporter mRNA and protein in rat renal proximal tubules. Am J Physiol 1995, 268:F784-F791.
91. Khundmiri S.J., Rane M.J., Lederer E.D. Parathyroid hormone regulation of type II sodium-phosphate cotransporters is dependent on an A kinase anchoring protein. J Biol Chem 2003, 278:10134-10141.
92. Kido S., Miyamoto K., Mizobuchi H., et al. Identification of regulatory sequences and binding proteins in the type II sodium/phosphate cotransporter NPT2 gene responsive to dietary phosphate. J Biol Chem 1999, 274:28256-28263.
93. Kobayashi K., Imanishi Y., Koshiyama H., et al. Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia. Life Sci 2006, 78:2295-2301.
94. Kolek O.I., Hines E.R., Jones M.D., et al. 1alpha,25-Dihydroxyvitamin D3 upregulates FGF23 gene expression in bone: the final link in a renal-gastrointestinal-skeletal axis that controls phosphate transport. Am J Physiol Gastrointest Liver Physiol 2005, 289:G1036-G1042.
95. Kruse K., Woelfel D., Strom T. Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation. Horm Res 2001, 55:305-308.
96. Kuro-o M. Klotho as a regulator of fibroblast growth factor signaling and phosphate/calcium metabolism. Curr Opin Nephrol Hypertens 2006, 15:437-441.
97. Kuro-o M., Matsumura Y., Aizawa H., et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 1997, 390:45-51.
98. Kurosu H., Ogawa Y., Miyoshi M., et al. Regulation of fibroblast growth factor-23 signaling by Klotho. J Biol Chem 2006, 281:6120-6123.
99. Lapointe J.Y., Tessier J., Paquette Y., et al. NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak. Kidney Int 2006, 69:2261-2267.
100. Larsson T., Nisbeth U., Ljunggren O., Jüppner H., Jonsson K. Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers. Kidney Int 2003, 64:2272-2279.
101. Larsson T., Marsell R., Schipani E., et al. Transgenic mice expressing fibroblast growth factor 23 under the control of the a1(I) collagen promoter exhibit growth retardation, osteomalacia and disturbed phosphate homeostasis. Endocrinology 2004, 145:3097-3104.
102. Larsson T., Davis S., Garringer H., et al. Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. J Clin Endocrinol Metab 2005, 146:3883-3891.
103. Lederer E.D., Sohi S.S., McLeish K.R. Parathyroid hormone stimulates extracellular signal-regulated kinase (ERK) activity through two independent signal transduction pathways: role of ERK in sodium-phosphate cotransport. J Am Soc Nephrol 2000, 11:222-231.
104. Lederer E.D., Khundmiri S.J., Weinman E.J. Role of NHERF-1 in regulation of the activity of Na-K ATPase and sodium-phosphate co-transport in epithelial cells. J Am Soc Nephrol 2003, 14:1711-1719.
105. Levi M., Shayman J.A., Abe A., et al. Dexamethasone modulates rat renal brush border membrane phosphate transporter mRNA and protein abundance and glycosphingolipid composition. J Clin Invest 1995, 96:207-216.
106. Levine M.A. Pseudohypoparathyroidism. Principles of bone biology 1996, 853-876. Academic Press, New York. J.P. Bilezikian, L.G. Raisz, G.A. Rodan (Eds.).
107. Li S.A., Watanabe M., Yamada H., Nagai A., Kinuta M., Takei K. Immunohistochemical localization of Klotho protein in brain, kidney, and reproductive organs of mice. Cell Struct Funct 2004, 29:91-99.
108. Linglart A., Bastepe M., Jüppner H. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. Clin Endocrinol (Oxf.) 2007, 67:822-831.
109. Lipman M., Panda D., Bennett H., et al. Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity. J Biol Chem 1998, 273:13729-13737.
110. Liu J., Litman D., Rosenberg M., Yu S., Biesecker L., Weinstein L. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 2000, 106:1167-1174.
111. Liu S., Brown T., Zhou J., et al. Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia. J Am Soc Nephrol 2005, 16:1645-1653.
112. Liu S., Zhou J., Tang W., Jiang X., Rowe D.W., Quarles L.D. Pathogenic role of Fgf23 in Hyp mice. Am J Physiol Endocrinol Metab 2006, 291:E38-E49.
113. Liu S., Gupta A., Quarles L.D. Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization. Curr Opin Nephrol Hypertens 2007, 16:329-335.
114. Lobaugh B., Drezner M.K. Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse. J Clin Invest 1983, 71:400-403.
115. Lorenz-Depiereux, B., Benet-Pages, A., Eckstein, G. et al. (2006a). Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium/phosphate cotransporter gene SLC34A3. Am J Human Genet78: 193-201.
116. 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, 38:1248-1250.
117. Lotscher M., Kaissling B., Biber J., Murer H., Levi M. Role of microtubules in the rapid regulation of renal phosphate transport in response to acute alterations in dietary phosphate content. J Clin Invest 1997, 99:1302-1312.
118. Lu, Y., Liu, S., Yu, S. et al. (2007a). The 57 kDa C-terminal fragment of Dentin Matrix Protein 1 (DMP1) retains all biological activity: osteocytic regulation of Pi homeostasis through FGF23. 29. Annual Meeting of American Society Bone and Mineral Research, Honolulu, Hawai.
119. Lu Y., Xie Y., Zhang S., et al. DMP1-targeted Cre expression in odontoblasts and osteocytes. J Dent Res 2007, 86:320-325.
120. Lyles K., Burkes E., Ellis G., Lucas K., Dolan E., Drezner M. Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. J Clin Endocrinol Metab 1985, 60:1093-1096.
121. Magagnin S., Werner A., Markovich D., et al. Expression cloning of human and rat renal cortex Na/Pi cotransport. Proc Natl Acad Sci USA 1993, 90:5979-5983.
122. Marcinkowski W., Smogorzewski M., Zhang G., Ni Z., Kedes L., Massry S.G. Renal mRNA of PTH-PTHrP receptor, [Ca2+]i and phosphaturic response to PTH in phosphate depletion. Miner Electrolyte Metab 1997, 23:48-57.
123. Markowitz M., Rotkin L., Rosen J.F. Circadian rhythms of blood minerals in humans. Science 1981, 213:672-674.
124. Plasma fractions 1976, Churchill Livingstone, New York. R.W. Marshall (Ed.).
125. Martin A., David V., Laurence J.S., et al. Degradation of MEPE, DMP1 & release of SIBLING ASARM-peptides (minhibins): ASARM-peptide(s) are directly responsible for defective mineralization in HYP. Endocrinology 2007.
126. Melhem R., Najjar S., Khachadurian A. Cortical hyperostosis with hyperphosphatemia: a new syndrome?. J Pediatr 1970, 77:986-990.
127. Mensenkamp A.R., Hoenderop J.G., Bindels R.J. TRPV5, the gateway to Ca2+ homeostasis. Handb Exp Pharmacol 2007, 207-220.
128. Meyer R.A., Gray R.W., Meyer M.H. Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse. Endocrinology 1980, 107:1577-1581.
129. Miyamoto K., Ito M., Tatsumi S., Kuwahata M., Segawa H. New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter. Am J Nephrol 2007, 27:503-515.
130. Muenke M., Schell U., Hehr A., et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994, 8:269-274.
131. Murer H., Forster I., Hernando N., Lambert G., Traebert M., Biber J. Posttranscriptional regulation of the proximal tubule NaPi-II transporter in response to PTH and dietary P(i). Am J Physiol 1999, 277:F676-F684.
132. Murer H., Hernando N., Forster I., Biber J. Regulation of Na/Pi transporter in the proximal tubule. Annu Rev Physiol 2003, 65:531-542.
133. Nagano N., Miyata S., Abe M., et al. Effect of manipulating serum phosphorus with phosphate binder on circulating PTH and FGF23 in renal failure rats. Kidney Int 2006, 69:531-537.
134. Narayanan K., Ramachandran A., Hao J., et al. Dual functional roles of dentin matrix protein 1. Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store. J Biol Chem 2003, 278:17500-17508.
135. Narchi H. Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. Pediatrics 1997, 99:745-748.
136. Negri A.L., Negrotti T., Alonso G., Pasqualini T. [Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family]. Medicina (B Aires) 2004, 64:103-106.
137. Nutritional considerations 1976, Churchill Livingstone, New York. B.E.C. Nordin (Ed.).
138. Ohkido I., Segawa H., Yanagida R., Nakamura M., Miyamoto K. Cloning, gene structure and dietary regulation of the type-IIc Na/Pi cotransporter in the mouse kidney. Pflugers Arch 2003, 446:106-115.
139. Perry W., Stamp T. Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases. J Bone Joint Surg 1978, 60B:430-434.
140. Pfister M.F., Hilfiker H., Forgo J., Lederer E., Biber J., Murer H. Cellular mechanisms involved in the acute adaptation of OK cell Na/Pi-cotransport to high- or low-Pi medium. Pflugers Arch 1998, 435:713-719.
141. i cotransporter. Proc Natl Acad Sci USA 1998, 95:1909-1914.
142. Portale A.A. Calcium and phosphorus. Pediatric nephrology 1999, 191-213. Lippincott Williams and Wilkins, Baltimore. T.M. Barratt, E.D. Avner, W.E. Harmon (Eds.).
143. Portale, A. A., and Miller, W. L. (2003). Rickets due to hereditary abnormalities of vitamin D synthesis and action. In Pediatric bone: biology and diseases. Academic Press, San Diego, pp. 583-602.
144. Portale A.A., Halloran B.P., Murphy M.M., Morris R.C. Oral intake of phosphorus can determine the serum concentration of 1,25-dihydroxyvitamin D by determining its production rate in humans. J Clin Invest 1986, 77:7-12.
145. Portale A.A., Halloran B.P., Morris R.C. Dietary intake of phosphorus modulates the circadian rhythm in serum concentration of phosphorus. Implications for the renal production of 1,25-dihydroxyvitamin D. J Clin Invest 1987, 80:1147-1154.
146. Portale A.A., Halloran B.P., Morris R.C. Physiologic regulation of the serum concentration of 1,25-dihydroxyvitamin D by phosphorus in normal men. J Clin Invest 1989, 83:1494-1499.
147. Potts J.T., Gardella T.J. Progress, paradox, and potential: parathyroid hormone research over five decades. Ann NY Acad Sci 2007, 1117:196-208.
148. Pribanic S., Gisler S.M., Bacic D., et al. Interactions of MAP17 with the NaPi-IIa/PDZK1 protein complex in renal proximal tubular cells. Am J Physiol Renal Physiol 2003, 285:F784-F791.
149. Prié D., Huart V., Bakouh N., et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 2002, 347:983-991.
150. Razzaque M.S., Lanske B. The emerging role of the fibroblast growth factor-23-klotho axis in renal regulation of phosphate homeostasis. J Endocrinol 2007, 194:1-10.
151. Riminucci M., Collins M., Fedarko N., et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J. Clin. Invest 2003, 112:683-692.
152. Roscioli T., Flanagan S., Kumar P., et al. Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. Am J Med Genet 2000, 93:22-28.
153. Rowe J., Rowe D., Horak E., et al. Hypophosphatemia and hypercalciuria in small premature infants fed human milk: evidence for inadequate dietary phosphorus. J Pediatr 1984, 104:112-117.
154. Rowe P., de Zoysa P., Dong R., et al. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000, 67:54-68.
155. Rowe P., Kumagai Y., Gutierrez G., et al. MEPE has the properties of an osteoblastic phosphatonin and minhibin. Bone 2004, 34:303-319.
156. Roy S., Tenenhouse H.S. Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3. Endocrinology 1996, 137:2938-2946.
157. Roy S., Martel J., Ma S., Tenenhouse H.S. Increased renal 25-hydroxyvitamin D3-24-hydroxylase messenger ribonucleic acid and immunoreactive protein in phosphate-deprived Hyp mice: a mechanism for accelerated 1,25-dihydroxyvitamin D3 catabolism in X-linked hypophosphatemic rickets. Endocrinology 1994, 134:1761-1767.
158. Saito H., Kusano K., Kinosaki M., et al. Human fibroblast growth factor-23 mutants suppress Na+-dependent phosphate co-transport activity and 1alpha,25-dihydroxyvitamin D3 production. J Biol Chem 2003, 278:2206-2211.
159. Saito, H., Maeda, A., Ohtomo, S. et al. (2005). Circulating FGF-23 is regulated by 1a,25-dihydroxyvitamin D3 and phosphorus in vivo. J Biol Chem280: 2543-2549.
160. Schoeber J.P., Hoenderop J.G., Bindels R.J. Concerted action of associated proteins in the regulation of TRPV5 and TRPV6. Biochem Soc Trans 2007, 35:115-119.
161. Schwindinger W., Francomano C., Levine M. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 1992, 89:5152-5156.
162. Scriver C.R., Reade T.M., DeLuca H.F., Hamstra A.J. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med 1978, 299:976-979.
163. Scriver C., Reade T., Halal F., Costa T., Cole D. Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. Arch Dis Child 1981, 56:203-207.
164. Segawa H., Kaneko I., Takahashi A., et al. Growth-related renal type II Na/Pi cotransporter. J Biol Chem 2002, 277:19665-19672.
165. Segawa H., Kawakami E., Kaneko I., et al. Effect of hydrolysis-resistant FGF23-R179Q on dietary phosphate regulation of the renal type-II Na/Pi transporter. Pflugers Arch 2003, 446:585-592.
166. Segawa H., Kaneko I., Yamanaka S., et al. Intestinal Na-P(i) cotransporter adaptation to dietary P(i) content in vitamin D receptor null mice. Am J Physiol Renal Physiol 2004, 287:F39-47.
167. Segawa H., Yamanaka S., Ito M., et al. Internalization of renal type IIc Na-Pi cotransporter in response to a high-phosphate diet. Am J Physiol Renal Physiol 2005, 288:F587-F596.
168. Segawa H., Yamanaka S., Onitsuka A., et al. Parathyroid hormone-dependent endocytosis of renal type IIc Na-Pi cotransporter. Am J Physiol Renal Physiol 2007, 292:F395-F403.
169. Segawa H., Onitsuka A., Kuwahata M., et al. The role of type IIc sodium-dependent phosphate transporter (Npt2c), which is involved in hereditary hypophosphatemic rickets with hypercalciuria (HHRH) 2007, ASBMR, Honululu, p. 1115.
170. Shimada T., Mizutani S., Muto T., et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 2001, 98:6500-6505.
171. Shimada T., Muto T., Urakawa I., et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 2002, 143:3179-3182.
172. Shimada T., Urakawa I., Yamazaki Y., et al. FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. Biochem Biophys Res Commun 2004, 314:409-414.
173. Shimada T., Kakitani M., Yamazaki Y., et al. Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J. Clin. Invest 2004, 113:561-568.
174. Sitara D., Razzaque M.S., Hesse M., et al. Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 2004, 23:421-432.
175. St-Arnaud, R. and Demay, M. B. (2003). Vitamin D biology. In Pediatric bone: biology and diseases. Academic Press, San Diego, pp. 193-216.
176. Renal transport of calcium, magnesium, and phosphate 1996, W.B. Saunders, Philadelphia. W.N. Suki, D. Rouse (Eds.).
177. Renal transport of calcium, magnesium, and phosphate 2000, W.B. Saunders, Philadelphia. W.N. Suki, E.D. Lederer, D. Rouse (Eds.).
178. Taketani Y., Segawa H., Chikamori M., et al. Regulation of type II renal Na+-dependent inorganic phosphate transporters by 1,25-dihydroxyvitamin D3. Identification of a vitamin D-responsive element in the human NAPi-3 gene. J Biol Chem 1998, 273:14575-14581.
179. Takeuchi Y., Suzuki H., Ogura S., et al. Venous sampling for fibroblast growth factor-23 confirms preoperative diagnosis of tumor-induced osteomalacia. J Clin Endocrinol Metab 2004, 89:3979-3982.
180. Tanaka Y., DeLuca H.F. The control of 25-hydroxyvitamin D metabolism by inorganic phosphorus. Arch Biochem Biophys 1973, 154:566-574.
181. Tenenhouse H.S. Phosphate transport: molecular basis, regulation and pathophysiology. J Steroid Biochem Mol Biol 2007, 103:572-577.
182. Tenenhouse H.S., Jones G. Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets. J Clin Invest 1990, 85:1450-1455.
183. Tenenhouse H.S., Martel J., Gauthier C., Zhang M.Y., Portale A.A. Renal expression of the sodium/phosphate cotransporter gene, Npt2, is not required for regulation of renal 1 alpha-hydroxylase by phosphate. Endocrinology 2001, 142:1124-1129.
184. Tenenhouse H., Martel J., Gauthier C., Segawa H., Miyamoto K. Differential effects of Npt2a gene ablation and X-linked Hyp mutation on renal expression of Npt2c. Am J Physiol Renal Physiol 2003, 285:F1271-F1278.
185. Tieder M., Modai D., Samuel R., et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 1985, 312:611-617.
186. Tieder M., Modai D., Shaked U., et al. 'Idiopathic' hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. N Engl J Med 1987, 316:125-129.
187. Topaz O., Shurman D., Bergman R., et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004, 36:579-581.
188. Traebert M., Volkl H., Biber J., Murer H., Kaissling B. Luminal and contraluminal action of 1-34 and 3-34 PTH peptides on renal type IIa Na-P(i) cotransporter. Am J Physiol Renal Physiol 2000, 278:F792-F798.
189. Urakawa I., Yamazaki Y., Shimada T., et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 2006, 444:770-774.
190. van Boekel G., Ruinemans-Koerts J., Joosten F., Dijkhuizen P., van Sorge A., de Boer H. Tumor producing fibroblast growth factor 23 localized by two-staged venous sampling. Eur J Endocrinol 2008, 158:431-437.
191. Villa-Bellosta R., Barac-Nieto M., Breusegem S.Y., Barry N.P., Levi M., Sorribas V. Interactions of the growth-related, type IIc renal sodium/phosphate cotransporter with PDZ proteins. Kidney Int 2007, 73:456-466.
192. Virkki L., Forster I., Hernando N., Biber J., Murer H. Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. J Bone Miner Res 2003, 18:2135-2141.
193. Virkki L.V., Biber J., Murer H., Forster I.C. Phosphate transporters: a tale of two solute carrier families. Am J Physiol Renal Physiol 2007, 293:F643-F654.
194. Wagner G.F., Vozzolo B.L., Jaworski E., et al. Human stanniocalcin inhibits renal phosphate excretion in the rat. J Bone Miner Res 1997, 12:165-171.
195. Weber T., Liu S., Indridason O., Quarles L. Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res 2003, 18:1227-1234.
196. Weinstein L.S. G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res 2006, 21(Suppl. 2):P120-P124.
197. Weinstein L.S., Shenker A., Gejman P.V., et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991, 325:1688-1695.
198. Weinstein L., Yu S., Warner D., Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001, 22:675-705.
199. Weinstein L.S., Liu J., Sakamoto A., Xie T., Chen M. Minireview: GNAS: normal and abnormal functions. Endocrinology 2004, 145:5459-5464.
200. Werner A., Moore M.L., Mantei N., Biber J., Semenza G., Murer H. Cloning and expression of cDNA for a Na/Pi cotransport system of kidney cortex. Proc Natl Acad Sci USA 1991, 88:9608-9612.
201. White, K. E., Evans, W. E., O'Riordan, J. L. H. et al. ADHR Consortium (2000). Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet26: 345-348.
202. White K., Jonsson K., Carn G., et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001, 86:497-500.
203. White K., Cabral J., et al. Mutations that cause osteoglophonic dysplasia define roles for FGFR1 in bone elongation. Am J Hum Genet 2005, 76:361-367.
204. White K., Larsson T., Econs M. The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: Frp-4, MEPE, and FGF23. Endocr Rev 2006, 27:221-241.
205. Absorption of calcium, phosphorus and magnesium 1976, Churchill Livingstone, New York. R. Wilkinson (Ed.).
206. Wilson L.C., Oude-Luttikhuis M.E.M., Clayton P.T., Fraser W.D., Trembath R.C. Parental origin of Gsa gene mutations in Albright's hereditary osteodystrophy. J Med Genet 1994, 31:835-839.
207. Wu S., Finch J., Zhong M., Slatopolsky E., Grieff M., Brown A.J. Expression of the renal 25-hydroxyvitamin D-24-hydroxylase gene: regulation by dietary phosphate. Am J Physiol 1996, 271:F203-F208.
208. Wu S., Grieff M., Brown A.J. Regulation of renal vitamin D-24-hydroxylase by phosphate: effects of hypophysectomy, growth hormone and insulin-like growth factor I. Biochem Biophys Res Commun 1997, 233:813-817.
209. Yamamoto T., Imanishi Y., Kinoshita E., et al. The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome. J Bone Miner Metab 2005, 23:231-237.
210. Yamaoka K., Seino Y., Satomura K., Tanaka Y., Yabuuchi H., Haussler M.R. Abnormal relationship between serum phosphate concentration and renal 25-hydroxycholecalciferol-1-alpha-hydroxylase activity in X-linked hypophosphatemic mice. Miner Electrolyte Metab 1986, 12:194-198.
211. Yamashita T., Yoshioka M., Itoh N. Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain. Biochem Biophys Res Commun 2000, 277:494-498.
212. Yamazaki Y., Okazaki R., Shibata M., et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 2002, 87:4957-4960.
213. Ye L., Mishina Y., Chen D., et al. Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype. J Biol Chem 2005, 280:6197-6203.
214. Yoshida T., Yoshida N., Monkawa T., Hayashi M., Saruta T. Dietary phosphorus deprivation induces 25-hydroxyvitamin D(3) 1alpha-hydroxylase gene expression. Endocrinology 2001, 142:1720-1726.
215. Yu X., Ibrahimi O.A., Goetz R., et al. Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23. Endocrinology 2005, 146:4647-4656.
216. Zhang M.Y., Wang X., Wang J.T., et al. Dietary phosphorus transcriptionally regulates 25-hydroxyvitamin D-1alpha-hydroxylase gene expression in the proximal renal tubule. Endocrinology 2002, 143:587-595.
217. Zhao N., Tenenhouse H.S. Npt2 gene disruption confers resistance to the inhibitory action of parathyroid hormone on renal sodium-phosphate cotransport. Endocrinology 2000, 141:2159-2165.
218. Brodehl J., Gellissen K., Weber H.P. Postnatal development of tubular phosphate reabsorption. Clin Nephrol 1982, 17:163-171.
219. Hilfiker H., Hattenhauer O., Traebert M., Forster I., Murer H., Biber J. Characterization of a murine type II sodium-phosphate cotransporter expressed in mammalian small intestine. Proc Natl Acad Sci USA 1998, 95:14564-14569.
220. Hilfiker H., Hartmann C.M., Stange G., Murer H. Characterization of the 5'-flanking region of OK cell type II Na-Pi cotransporter gene. Am J Physiol 1998, 274:F197-F204.
221. Maierhofer W.J., Gray R.W., Lemann J. Phosphate deprivation increases serum 1,25-(OH)2-vitamin D concentrations in healthy men. Kidney Int 1984, 25:571-575.