Insights From Genetic Disorders of Phosphate Homeostasis
Tóm tắt
Từ khóa
Tài liệu tham khảo
Ruppe, 2011, Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets, Clin Endocrinol (Oxf), 74, 312, 10.1111/j.1365-2265.2010.03919.x
White, 2000, Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23, Nat Genet, 26, 345, 10.1038/81664
Shimada, 2001, Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia, Proc Natl Acad Sci U S A, 98, 6500, 10.1073/pnas.101545198
White, 2001, The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting, J Clin Endocrinol Metab, 86, 497, 10.1210/jc.86.2.497
Riminucci, 2003, FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting, J Clin Invest, 112, 683, 10.1172/JCI18399
Sitara, 2004, Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice, Matrix Biol, 23, 421, 10.1016/j.matbio.2004.09.007
Liu, 2006, Pathogenic role of Fgf23 in Hyp mice, Am J Physiol Endocrinol Metab, 291, E38, 10.1152/ajpendo.00008.2006
Fon Tacer, 2010, Research resource: comprehensive expression atlas of the fibroblast growth factor system in adult mouse, Mol Endocrinol, 24, 2050, 10.1210/me.2010-0142
Shimada, 2002, Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo, Endocrinology, 143, 3179, 10.1210/en.143.8.3179
Benet-Pages, 2004, FGF23 is processed by proprotein convertases but not by PHEX, Bone, 35, 455, 10.1016/j.bone.2004.04.002
Yuan, 2013, Hexa-D-arginine treatment increases 7B2-PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype, J Bone Miner Res, 28, 56, 10.1002/jbmr.1738
Goetz, 2010, Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation, Proc Natl Acad Sci U S A, 107, 407, 10.1073/pnas.0902006107
Burnett, 2006, Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women, J Bone Miner Res, 21, 1187, 10.1359/jbmr.060507
Burnett-Bowie, 2009, Effects of hPTH(1-34) infusion on circulating serum phosphate, 1,25-dihydroxyvitamin D, and FGF23 levels in healthy men, J Bone Miner Res, 24, 1681, 10.1359/jbmr.090406
Antoniucci, 2006, Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men, J Clin Endocrinol Metab, 91, 3144, 10.1210/jc.2006-0021
Cancela, 2011, Fibroblast growth factor 23 in hemodialysis patients: effects of phosphate binder, calcitriol and calcium concentration in the dialysate, Nephron Clin Pract, 117, c74, 10.1159/000319650
Barthel, 2007, 1,25-Dihydroxyvitamin D3/VDR-mediated induction of FGF23 as well as transcriptional control of other bone anabolic and catabolic genes that orchestrate the regulation of phosphate and calcium mineral metabolism, J Steroid Biochem Mol Biol, 103, 381, 10.1016/j.jsbmb.2006.12.054
Rhee, 2011, Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo, Bone, 49, 636, 10.1016/j.bone.2011.06.025
Lavi-Moshayoff, 2010, PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: a bone parathyroid feedback loop, Am J Physiol Renal Physiol, 299, F882, 10.1152/ajprenal.00360.2010
Gutierrez, 2012, (1-34) Parathyroid hormone infusion acutely lowers fibroblast growth factor 23 concentrations in adult volunteers, Clin J Am Soc Nephrol, 7, 139, 10.2215/CJN.06240611
Lorenz-Depiereux, 2006, DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis, Nat Genet, 38, 1248, 10.1038/ng1868
Feng, 2006, Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism, Nat Genet, 38, 1310, 10.1038/ng1905
Liu, 2008, Pathogenic role of Fgf23 in Dmp1-null mice, Am J Physiol Endocrinol Metab, 295, E254, 10.1152/ajpendo.90201.2008
Lu, 2011, The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment, J Bone Miner Res, 26, 331, 10.1002/jbmr.226
Yamazaki, 2002, Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia, J Clin Endocrinol Metab, 87, 4957, 10.1210/jc.2002-021105
Martin, 2011, 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, 10.1096/fj.10-177816
Wohrle, 2011, 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, 26, 2486, 10.1002/jbmr.478
Imel, 2011, Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans, J Clin Endocrinol Metab, 96, 3541, 10.1210/jc.2011-1239
Farrow, 2011, Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice, Proc Natl Acad Sci U S A, 108, E1146, 10.1073/pnas.1110905108
Bhattacharyya, 2012, Mechanism of FGF23 processing in fibrous dysplasia, J Bone Miner Res, 27, 1132, 10.1002/jbmr.1546
Yu, 2005, Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23, Endocrinology, 146, 4647, 10.1210/en.2005-0670
Urakawa, 2006, Klotho converts canonical FGF receptor into a specific receptor for FGF23, Nature, 444, 770, 10.1038/nature05315
Kuro-o, 1997, Mutation of the mouse klotho gene leads to a syndrome resembling ageing, Nature, 390, 45, 10.1038/36285
Shimada, 2004, Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism, J Clin Invest, 113, 561, 10.1172/JCI200419081
Farrow, 2010, Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation, J Endocrinol, 207, 67, 10.1677/JOE-10-0181
Segawa, 2003, Effect of hydrolysis-resistant FGF23-R179Q on dietary phosphate regulation of the renal type-II Na/Pi transporter, Pflugers Arch, 446, 585, 10.1007/s00424-003-1084-1
Bai, 2004, Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders, Endocrinology, 145, 5269, 10.1210/en.2004-0233
Shimada, 2004, FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis, J Bone Miner Res, 19, 429, 10.1359/JBMR.0301264
Naveh-Many, 1995, Parathyroid cell proliferation in normal and chronic renal failure rats, J Clin Invest, 96, 1786, 10.1172/JCI118224
Demay, 1992, Sequences in the human parathyroid hormone gene that bind the 1,25-dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3, Proc Natl Acad Sci U S A, 89, 8097, 10.1073/pnas.89.17.8097
Almaden, 1998, High phosphate level directly stimulates parathyroid hormone secretion and synthesis by human parathyroid tissue in vitro, J Am Soc Nephrol, 9, 1845, 10.1681/ASN.V9101845
Thakker, 2010, Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism, 1136
Jüppner, 1991, A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide, Science, 254, 1024, 10.1126/science.1658941
Forster, 2006, Proximal tubular handling of phosphate: a molecular perspective, Kidney Int, 70, 1548, 10.1038/sj.ki.5001813
Linglart, 2011, Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance, N Engl J Med, 364, 2218, 10.1056/NEJMoa1012717
Brown, 2009, Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia, J Clin Endocrinol Metab, 94, 17, 10.1210/jc.2008-0220
Collins, 2001, Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia, J Bone Miner Res, 16, 806, 10.1359/jbmr.2001.16.5.806
Bai, 2007, Early lethality in Hyp mice with targeted deletion of Pth gene, Endocrinology, 148, 4974, 10.1210/en.2007-0243
Bergwitz, 2010, Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23, Annu Rev Med, 61, 91, 10.1146/annurev.med.051308.111339
Gupta, 2004, FGF-23 is elevated by chronic hyperphosphatemia, J Clin Endocrinol Metab, 89, 4489, 10.1210/jc.2004-0724
Yamashita, 2007, Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation, Endocr J, 54, 465, 10.1507/endocrj.K06-156
Yuan, 2011, FGF-23/Klotho signaling is not essential for the phosphaturic and anabolic functions of PTH, J Bone Miner Res, 26, 2026, 10.1002/jbmr.433
Haussler, 1997, The vitamin D hormone and its nuclear receptor: molecular actions and disease states, J Endocrinol, 154, S57
Hughes, 1988, Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets, Science, 242, 1702, 10.1126/science.2849209
Marks, 2006, Intestinal phosphate absorption and the effect of vitamin D: a comparison of rats with mice, Exp Physiol, 91, 531, 10.1113/expphysiol.2005.032516
Sabbagh, 2009, Intestinal npt2b plays a major role in phosphate absorption and homeostasis, J Am Soc Nephrol, 20, 2348, 10.1681/ASN.2009050559
Inoue, 2005, Role of the vitamin D receptor in FGF23 action on phosphate metabolism, Biochem J, 390, 325, 10.1042/BJ20041799
Rowe, 2000, MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia, Genomics, 67, 54, 10.1006/geno.2000.6235
DeBeur, 2002, Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism, J Bone Miner Res, 17, 1102, 10.1359/jbmr.2002.17.6.1102
Carpenter, 2005, Fibroblast growth factor 7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors, J Clin Endocrinol Metab, 90, 1012, 10.1210/jc.2004-0357
Gowen, 2003, Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass, J Biol Chem, 278, 1998, 10.1074/jbc.M203250200
Christov, 2011, Genetic ablation of sfrp4 in mice does not affect serum phosphate homeostasis, Endocrinology, 152, 2031, 10.1210/en.2010-1351
Pande, 2006, FGF-23 and sFRP-4 in chronic kidney disease and post-renal transplantation, Nephron Physiol, 104, 23, 10.1159/000093277
Pereira, 2009, Patterns of FGF-23, DMP1, and MEPE expression in patients with chronic kidney disease, Bone, 45, 1161, 10.1016/j.bone.2009.08.008
Lyles, 1985, Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity, J Clin Endocrinol Metab, 60, 1093, 10.1210/jcem-60-6-1093
Topaz, 2004, Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis, Nat Genet, 36, 579, 10.1038/ng1358
Ichikawa, 2006, Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene, J Clin Endocrinol Metab, 91, 4472, 10.1210/jc.2006-1247
Larsson, 2005, A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis, J Clin Endocrinol Metab, 90, 2424, 10.1210/jc.2004-2238
Benet-Pages, 2005, An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia, Hum Mol Genet, 14, 385, 10.1093/hmg/ddi034
Bergwitz, 2009, Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis, J Clin Endocrinol Metab, 94, 4267, 10.1210/jc.2009-0961
Melhem, 1970, Cortical hyperostosis with hyperphosphatemia: a new syndrome?, J Pediatr, 77, 986, 10.1016/S0022-3476(70)80081-6
Frishberg, 2005, Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders, J Mol Med (Berl), 83, 33, 10.1007/s00109-004-0610-8
Ichikawa, 2007, A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis, J Clin Invest, 117, 2684, 10.1172/JCI31330
Thakker, 2010, Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism, Vol 1, 1136
Bastepe, 2008, The GNAS locus and pseudohypoparathyroidism, Adv Exp Med Biol, 626, 27, 10.1007/978-0-387-77576-0_3
Yu, 1998, Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene, Proc Natl Acad Sci U S A, 95, 8715, 10.1073/pnas.95.15.8715
Jüppner, 1998, The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3, Proc Natl Acad Sci U S A, 95, 11798, 10.1073/pnas.95.20.11798
Dauber, 2012, Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia, J Clin Endocrinol Metab, 97, E268, 10.1210/jc.2011-1972
Schlingmann, 2011, Mutations in CYP24A1 and idiopathic infantile hypercalcemia, N Engl J Med, 365, 410, 10.1056/NEJMoa1103864
Francis, 1995, A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP consortium, Nat Genet, 11, 130, 10.1038/ng1095-130
Holm, 1997, Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets, Am J Hum Genet, 60, 790
Liu, 2003, Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX, J Biol Chem, 278, 37419, 10.1074/jbc.M304544200
Jonsson, 2003, Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia, N Engl J Med, 348, 1656, 10.1056/NEJMoa020881
Yamazaki, 2008, Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23, J Bone Miner Res, 23, 1509, 10.1359/jbmr.080417
Addison, 2008, MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM, J Bone Miner Res, 23, 1638, 10.1359/jbmr.080601
Addison, 2010, Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage, J Bone Miner Res, 25, 695, 10.1359/jbmr.090832
Liu, 2007, Phosphorylated acidic serine-aspartate-rich MEPE-associated motif peptide from matrix extracellular phosphoglycoprotein inhibits phosphate regulating gene with homologies to endopeptidases on the X-chromosome enzyme activity, J Endocrinol, 192, 261, 10.1677/joe.1.07059
Perry, 1978, Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis, J Bone Joint Surg Br, 60B, 430, 10.1302/0301-620X.60B3.681423
Lu, 2009, Studies of the DMP1 57-kDa functional domain both in vivo and in vitro, Cells Tissues Organs, 189, 175, 10.1159/000151727
Ye, 2005, Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype, J Biol Chem, 280, 6197, 10.1074/jbc.M412911200
Lorenz-Depiereux, 2010, Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets, Am J Hum Genet, 86, 267, 10.1016/j.ajhg.2010.01.006
Levy-Litan, 2010, Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene, Am J Hum Genet, 86, 273, 10.1016/j.ajhg.2010.01.010
Mackenzie, 2012, Altered bone development and an increase in FGF-23 expression in Enpp1(−/−) mice, PLoS One, 7, e32177, 10.1371/journal.pone.0032177
Nitschke, 2012, Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6, Am J Hum Genet, 90, 25, 10.1016/j.ajhg.2011.11.020
Kobayashi, 2006, Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia, Life Sci, 78, 2295, 10.1016/j.lfs.2005.09.052
John, 2001, A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusidal malignant schwannoma, Bone, 29, 393, 10.1016/S8756-3282(01)00586-5
Imel, 2006, Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia, J Clin Endocrinol Metab, 91, 2055, 10.1210/jc.2005-2105
Prie, 2002, Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter, N Engl J Med, 347, 983, 10.1056/NEJMoa020028
Virkki, 2003, Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa, J Bone Miner Res, 18, 2135, 10.1359/jbmr.2003.18.12.2135
Magen, 2010, A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome, N Engl J Med, 362, 1102, 10.1056/NEJMoa0905647
Tieder, 1985, Hereditary hypophosphatemic rickets with hypercalciuria, N Engl J Med, 312, 611, 10.1056/NEJM198503073121003
Bergwitz, 2006, SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis, Am J Hum Genet, 78, 179, 10.1086/499409
Ichikawa, 2006, Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria, J Clin Endocrinol Metab, 91, 4022, 10.1210/jc.2005-2840
Lorenz-Depiereux, 2006, Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3, Am J Hum Genet, 78, 193, 10.1086/499410
Miyamoto, 2011, Sodium-dependent phosphate cotransporters: lessons from gene knockout and mutation studies, J Pharm Sci, 100, 3719, 10.1002/jps.22614
Feild, 1999, Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine, Biochem Biophys Res Commun, 258, 578, 10.1006/bbrc.1999.0666
Shibasaki, 2009, Targeted deletion of the tybe IIb Na(+)-dependent Pi-co-transporter, NaPi-IIb, results in early embryonic lethality, Biochem Biophys Res Commun, 381, 482, 10.1016/j.bbrc.2009.02.067
Corut, 2006, Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis, Am J Hum Genet, 79, 650, 10.1086/508263
Prader, 1961, [An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets], Helv Paediatr Acta, 16, 452
Fraser, 1973, Pathogenesis of hereditary vitamin-D-dependent rickets, N Engl J Med, 289, 817, 10.1056/NEJM197310182891601
St-Arnaud, 1997, The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus, J Bone Miner Res, 12, 1552, 10.1359/jbmr.1997.12.10.1552
Fu, 1997, Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1, Mol Endocrinol, 11, 1961, 10.1210/me.11.13.1961
Kitanaka, 1998, Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets, N Engl J Med, 338, 653, 10.1056/NEJM199803053381004
Wang, 2002, Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro, J Clin Endocrinol Metab, 87, 2424, 10.1210/jc.87.6.2424
Brooks, 1978, Vitamin-D-dependent rickets type II, N Engl J Med, 298, 996, 10.1056/NEJM197805042981804
Fujita, 1980, Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone, J Clin Endocrinol Metab, 50, 927, 10.1210/jcem-50-5-927
Lloyd, 1996, A common molecular basis for three inherited kidney stone diseases, Nature, 379, 445, 10.1038/379445a0
Scheinman, 1998, X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations, Kidney Int, 53, 3, 10.1046/j.1523-1755.1998.00718.x
Leahey, 1993, Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe, Hum Mol Genet, 2, 461, 10.1093/hmg/2.4.461
Santer, 1997, Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome, Nat Genet, 17, 324, 10.1038/ng1197-324
White, 2005, Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation, Am J Hum Genet, 76, 361, 10.1086/427956
Hoffman, 2005, Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome, Am J Med Genet A, 134, 233, 10.1002/ajmg.a.30599
Heike, 2005, Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?, Am J Med Genet A, 139A, 67, 10.1002/ajmg.a.30915
Aono, 2009, Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia, J Bone Miner Res, 24, 1879, 10.1359/jbmr.090509
Hasegawa, 2010, Direct evidence for a causative role of FGF23 in the abnormal renal phosphate handling and vitamin D metabolism in rats with early-stage chronic kidney disease, Kidney Int, 78, 975, 10.1038/ki.2010.313
Shalhoub, 2012, FGF23 neutralization improves chronic kidney disease-associated hyperparathyroidism yet increases mortality, J Clin Invest, 122, 2543, 10.1172/JCI61405
Durham, 2007, The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays, Ann Clin Biochem, 44, 463, 10.1258/000456307781646102
Shimada, 2010, Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active, J Clin Endocrinol Metab, 95, 578, 10.1210/jc.2009-1603
Gutierrez, 2008, Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis, N Engl J Med, 359, 584, 10.1056/NEJMoa0706130
Hu, 2010, Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule, FASEB J, 24, 3438, 10.1096/fj.10-154765
Brownstein, 2008, A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism, Proc Natl Acad Sci U S A, 105, 3455, 10.1073/pnas.0712361105
Gutierrez, 2005, Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease, J Am Soc Nephrol, 16, 2205, 10.1681/ASN.2005010052
Sebastian, 2008, Differential effects of intermittent PTH(1-34) and PTH(7-34) on bone microarchitecture and aortic calcification in experimental renal failure, Bone, 43, 1022, 10.1016/j.bone.2008.07.250
Jamal, 2011, Reducing the risk of re-fracture in the dialysis population: is it time to consider therapy with PTH analogues?, Semin Dial, 24, 12, 10.1111/j.1525-139X.2010.00817.x