-
2
-
-
31544469808
-
+/phosphate cotransporter NaPi-IIa is internalized via the receptor-mediated endocytic route in response to parathyroid hormone
-
DOI 10.1038/sj.ki.5000148, PII 5000148
-
Bacic D, Lehir M, Biber J, Kaissling B, Murer H, Wagner. The renal Na+/phosphate cotransporter NaPi-IIa is internalized via the receptor-mediated endocytic route in response to parathyroid hormone. Kidney Int. 2006;69(3):495-503. (Pubitemid 43164441)
-
(2006)
Kidney International
, vol.69
, Issue.3
, pp. 495-503
-
-
Bacic, D.1
LeHir, M.2
Biber, J.3
Kaissling, B.4
Murer, H.5
Wagner, C.A.6
-
3
-
-
58249112746
-
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets
-
Farrow EG, Davis SI, Ward LM, Summers LJ, Bubbear JS, Keen R, et al. Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone. 2009;44(2):287-94.
-
(2009)
Bone
, vol.44
, Issue.2
, pp. 287-294
-
-
Farrow, E.G.1
Davis, S.I.2
Ward, L.M.3
Summers, L.J.4
Bubbear, J.S.5
Keen, R.6
-
4
-
-
33646367420
-
Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D
-
DOI 10.1681/ASN.2005111185
-
Liu S, Tang W, Zhou J, Stubbs JR, Luo Q, Pi M, et al. Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D. J Am Soc Nephrol. 2006;17(5):1305-15. (Pubitemid 43673410)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.5
, pp. 1305-1315
-
-
Liu, S.1
Tang, W.2
Zhou, J.3
Stubbs, J.R.4
Luo, Q.5
Pi, M.6
Quarles, L.D.7
-
5
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
DOI 10.1073/pnas.101545198
-
Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A. 2001;98(11):6500-5. (Pubitemid 32488266)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.11
, pp. 6500-6505
-
-
Shimada, T.1
Mizutani, S.2
Muto, T.3
Yoneya, T.4
Hino, R.5
Takeda, S.6
Takeuchi, Y.7
Fujita, T.8
Fukumoto, S.9
Yamashita, T.10
-
6
-
-
35848947037
-
Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells
-
DOI 10.1677/JOE-07-0267
-
Krajisnik T, Bjorklund P, Marsell R, Ljunggren O, Akerstrom G, Jonsson KB, et al. Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells. J Endocrinol. 2007;195(1):125-31. (Pubitemid 350056006)
-
(2007)
Journal of Endocrinology
, vol.195
, Issue.1
, pp. 125-131
-
-
Krajisnik, T.1
Bjorklund, P.2
Marsell, R.3
Ljunggren, O.4
Akerstrom, G.5
Jonsson, K.B.6
Westin, G.7
Larsson, T.E.8
-
7
-
-
36849017126
-
The parathyroid is a target organ for FGF23 in rats
-
DOI 10.1172/JCI32409
-
Ben-Dov IZ, Galitzer H, Lavi-Moshayoff V, Goetz R, Kuro-o M, Mohammadi M, et al. The parathyroid is a target organ for FGF23 in rats. J Clin Invest. 2007;117(12):4003-8. (Pubitemid 350224109)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.12
, pp. 4003-4008
-
-
Ben-Dov, I.Z.1
Galitzer, H.2
Lavi-Moshayoff, V.3
Goetz, R.4
Kuro-o, M.5
Mohammadi, M.6
Sirkis, R.7
Naveh-Many, T.8
Silver, J.9
-
8
-
-
80052303008
-
Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo
-
Rhee Y, Bivi N, Farrow E, Lezcano V, Plotkin LI, White KE, et al. Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo. Bone. 2011;49(4):636-43.
-
(2011)
Bone
, vol.49
, Issue.4
, pp. 636-643
-
-
Rhee, Y.1
Bivi, N.2
Farrow, E.3
Lezcano, V.4
Plotkin, L.I.5
White, K.E.6
-
9
-
-
84892774990
-
Parathyroid-specific deletion of Klotho unravels a novel calcineurin-dependent FGF23 signaling pathway that regulates PTH secretion
-
Olauson H, Lindberg K, Amin R, Sato T, Jia T, Goetz R, et al. Parathyroid-specific deletion of Klotho unravels a novel calcineurin-dependent FGF23 signaling pathway that regulates PTH secretion. PLoS Genet. 2013;9(12):e1003975.
-
(2013)
PLoS Genet
, vol.9
, Issue.12
-
-
Olauson, H.1
Lindberg, K.2
Amin, R.3
Sato, T.4
Jia, T.5
Goetz, R.6
-
10
-
-
0032567647
-
Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein
-
DOI 10.1006/bbrc.1997.8019
-
Matsumura Y, Aizawa H, Shiraki-Iida T, Nagai R, Kuro-o M, Nabeshima Y. Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. Biochem Biophys Res Commun. 1998;242(3):626-30. (Pubitemid 28412578)
-
(1998)
Biochemical and Biophysical Research Communications
, vol.242
, Issue.3
, pp. 626-630
-
-
Matsumura, Y.1
Aizawa, H.2
Shiraki-Iida, T.3
Nagai, R.4
Kuro-O, M.5
Nabeshima, Y.-I.6
-
11
-
-
70349437179
-
Klotho is a substrate for alpha-, beta- and gamma-secretase
-
Bloch L, Sineshchekova O, Reichenbach D, Reiss K, Saftig P, Kuro-o M, et al. Klotho is a substrate for alpha-, beta- and gamma-secretase. FEBS Lett. 2009;583(19):3221-4.
-
(2009)
FEBS Lett
, vol.583
, Issue.19
, pp. 3221-3224
-
-
Bloch, L.1
Sineshchekova, O.2
Reichenbach, D.3
Reiss, K.4
Saftig, P.5
Kuro-o, M.6
-
12
-
-
76249084836
-
Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation
-
Goetz R, Nakada Y, Hu MC, Kurosu H, Wang L, Nakatani T, et al. Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation. Proc Natl Acad Sci U S A. 2009;107(1):407-12.
-
(2009)
Proc Natl Acad Sci U S A
, vol.107
, Issue.1
, pp. 407-412
-
-
Goetz, R.1
Nakada, Y.2
Hu, M.C.3
Kurosu, H.4
Wang, L.5
Nakatani, T.6
-
13
-
-
33845631059
-
Klotho converts canonical FGF receptor into a specific receptor for FGF23
-
DOI 10.1038/nature05315, PII NATURE05315
-
Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature. 2006;444(7120):770-4. (Pubitemid 44949607)
-
(2006)
Nature
, vol.444
, Issue.7120
, pp. 770-774
-
-
Urakawa, I.1
Yamazaki, Y.2
Shimada, T.3
Iijima, K.4
Hasegawa, H.5
Okawa, K.6
Fujita, T.7
Fukumoto, S.8
Yamashita, T.9
-
14
-
-
79952161016
-
Compound deletion of Fgfr3 and Fgfr4 partially rescues the Hyp mouse phenotype
-
Li H, Martin A, David V, Quarles LD. Compound deletion of Fgfr3 and Fgfr4 partially rescues the Hyp mouse phenotype. Am J Physiol Endocrinol Metab. 2011;300(3):E508-17.
-
(2011)
Am J Physiol Endocrinol Metab
, vol.300
, Issue.3
-
-
Li, H.1
Martin, A.2
David, V.3
Quarles, L.D.4
-
15
-
-
33646578195
-
Regulation of fibroblast growth factor-23 signaling by Klotho
-
DOI 10.1074/jbc.C500457200
-
Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt KP, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem. 2006;281(10):6120-3. (Pubitemid 43847540)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.10
, pp. 6120-6123
-
-
Kurosu, H.1
Ogawa, Y.2
Miyoshi, M.3
Yamamoto, M.4
Nandi, A.5
Rosenblatt, K.P.6
Baum, M.G.7
Schiavi, S.8
Hu, M.-C.9
Moe, O.W.10
Kuro-o, M.11
-
16
-
-
65649103814
-
Initial FGF23-mediated signaling occurs in the distal convoluted tubule
-
Farrow EG, Davis SI, Summers LJ, White KE. Initial FGF23-mediated signaling occurs in the distal convoluted tubule. J Am Soc Nephrol. 2009;20(5):955-60.
-
(2009)
J Am Soc Nephrol
, vol.20
, Issue.5
, pp. 955-960
-
-
Farrow, E.G.1
Davis, S.I.2
Summers, L.J.3
White, K.E.4
-
17
-
-
84867029524
-
Targeted deletion of Klotho in kidney distal tubule disrupts mineral metabolism
-
A novel Klotho-derived renal-bone feedback loop was described after generating a mouse model with partial deletion of Klotho in the distal tubular segments. While the Ksp-Cre KL(-/-) mice had a normal phenotype, lacking the vascular and tubular calcifications found in Klotho(-/-) mice, they did exhibit hyperphosphatemia with elevated FGF23, increased expression of Npt2a, and increased vitamin D signaling highlighting the importance of the renal-bone Klotho feedback loop
-
• Olauson H, Lindberg K, Amin R, Jia T, Wernerson A, Andersson G, et al. Targeted deletion of Klotho in kidney distal tubule disrupts mineral metabolism. J Am Soc Nephrol. 2012;23(10):1641-51. A novel Klotho-derived renal-bone feedback loop was described after generating a mouse model with partial deletion of Klotho in the distal tubular segments. While the Ksp-Cre KL(-/-) mice had a normal phenotype, lacking the vascular and tubular calcifications found in Klotho(-/-) mice, they did exhibit hyperphosphatemia with elevated FGF23, increased expression of Npt2a, and increased vitamin D signaling highlighting the importance of the renal-bone Klotho feedback loop.
-
(2012)
J Am Soc Nephrol
, vol.23
, Issue.10
, pp. 1641-1651
-
-
Olauson, H.1
Lindberg, K.2
Amin, R.3
Jia, T.4
Wernerson, A.5
Andersson, G.6
-
18
-
-
84897838979
-
FGF23 promotes renal calcium reabsorption through the TRPV5 channel
-
Andrukhova O, Smorodchenko A, Egerbacher M, Streicher C, Zeitz U, Goetz R, et al. FGF23 promotes renal calcium reabsorption through the TRPV5 channel. EMBO J. 2013;33(3):229-46.
-
(2013)
EMBO J
, vol.33
, Issue.3
, pp. 229-246
-
-
Andrukhova, O.1
Smorodchenko, A.2
Egerbacher, M.3
Streicher, C.4
Zeitz, U.5
Goetz, R.6
-
19
-
-
33747719260
-
Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men
-
DOI 10.1210/jc.2006-0021
-
Antoniucci DM, Yamashita T, Portale AA. Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab. 2006;91(8):3144-9. (Pubitemid 44271770)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.8
, pp. 3144-3149
-
-
Antoniucci, D.M.1
Yamashita, T.2
Portale, A.A.3
-
20
-
-
33746406756
-
Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women
-
DOI 10.1359/jbmr.060507
-
Burnett SM, Gunawardene SC, Bringhurst FR, Juppner H, Lee H, Finkelstein JS. Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women. J Bone Miner Res. 2006;21(8):1187-96. (Pubitemid 44128331)
-
(2006)
Journal of Bone and Mineral Research
, vol.21
, Issue.8
, pp. 1187-1196
-
-
Burnett, S.-A.M.1
Gunawardene, S.C.2
Bringhurst, F.R.3
Juppner, H.4
Lee, H.5
Finkelstein, J.S.6
-
21
-
-
84888219981
-
Calcium regulates FGF-23 expression in bone
-
David V, Dai B, Martin A, Huang J, Han X, Quarles LD. Calcium regulates FGF-23 expression in bone. Endocrinology. 2013;154(12):4469-82.
-
(2013)
Endocrinology
, vol.154
, Issue.12
, pp. 4469-4482
-
-
David, V.1
Dai, B.2
Martin, A.3
Huang, J.4
Han, X.5
Quarles, L.D.6
-
22
-
-
20244368616
-
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
-
DOI 10.1056/NEJMoa020881
-
Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med. 2003;348(17):1656-63. (Pubitemid 36459471)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.17
, pp. 1656-1663
-
-
Jonsson, K.B.1
Zahradnik, R.2
Larsson, T.3
White, K.E.4
Sugimoto, T.5
Imanishi, Y.6
Yamamoto, T.7
Hampson, G.8
Koshiyama, H.9
Ljunggren, O.10
Oba, K.11
Yang, I.M.12
Miyauchi, A.13
Econs, M.J.14
Lavigne, J.15
Juppner, H.16
-
23
-
-
18744371012
-
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia
-
DOI 10.1210/jc.2002-021105
-
Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab. 2002;87(11):4957-60. (Pubitemid 35316332)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.11
, pp. 4957-4960
-
-
Yamazaki, Y.1
Okazaki, R.2
Shibata, M.3
Hasegawa, Y.4
Satoh, K.5
Tajima, T.6
Takeuchi, Y.7
Fujita, T.8
Nakahara, K.9
Yamashita, T.10
Fukumoto, S.11
-
24
-
-
0033763097
-
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
-
ADHR-Consortium
-
ADHR-Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000;26(3):345-8.
-
(2000)
Nat Genet
, vol.26
, Issue.3
, pp. 345-348
-
-
-
25
-
-
0035186837
-
Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23
-
DOI 10.1046/j.1523-1755.2001.00064.x
-
White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int. 2001;60(6):2079-86. (Pubitemid 33070451)
-
(2001)
Kidney International
, vol.60
, Issue.6
, pp. 2079-2086
-
-
White, K.E.1
Carn, G.2
Lorenz-Depiereux, B.3
Benet-Pages, A.4
Strom, T.M.5
Econs, M.J.6
-
26
-
-
18444375871
-
Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo
-
DOI 10.1210/en.143.8.3179
-
Shimada T, Muto T, Urakawa I, Yoneya T, Yamazaki Y, Okawa K, et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology. 2002;143(8):3179-82. (Pubitemid 34809892)
-
(2002)
Endocrinology
, vol.143
, Issue.8
, pp. 3179-3182
-
-
Shimada, T.1
Muto, T.2
Urakawa, I.3
Yoneya, T.4
Yamazaki, Y.5
Okawa, K.6
Takeuchi, Y.7
Fujita, T.8
Fukumoto, S.9
Yamashita, T.10
-
27
-
-
33745828096
-
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis: Secretion of fibroblast growth factor 23 requires O-glycosylation
-
DOI 10.1074/jbc.M602469200
-
Kato K, Jeanneau C, Tarp MA, Benet-Pages A, Lorenz-Depiereux B, Bennett EP, et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem. 2006;281(27):18370-7. (Pubitemid 44035494)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.27
, pp. 18370-18377
-
-
Kato, K.1
Jeanneau, C.2
Tarp, M.A.3
Benet-Pages, A.4
Lorenz-Depiereux, B.5
Bennett, E.P.6
Mandel, U.7
Strom, T.M.8
Clausen, H.9
-
28
-
-
2642546399
-
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
-
DOI 10.1038/ng1358
-
Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet. 2004;36(6):579-81. (Pubitemid 38715983)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 579-581
-
-
Topaz, O.1
Shurman, D.L.2
Bergman, R.3
Indelman, M.4
Ratajczak, P.5
Mizrachi, M.6
Khamaysi, Z.7
Behar, D.8
Petronius, D.9
Friedman, V.10
Zelikovic, I.11
Raimer, S.12
Metzker, A.13
Richard, G.14
Sprecher, E.15
-
29
-
-
66649090939
-
Ablation of the Galnt3 gene leads to lowcirculating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression
-
Ichikawa S, Sorenson AH, Austin AM, Mackenzie DS, Fritz TA, Moh A, et al. Ablation of the Galnt3 gene leads to lowcirculating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology. 2009;150(6):2543-50.
-
(2009)
Endocrinology
, vol.150
, Issue.6
, pp. 2543-2550
-
-
Ichikawa, S.1
Sorenson, A.H.2
Austin, A.M.3
Mackenzie, D.S.4
Fritz, T.A.5
Moh, A.6
-
30
-
-
13544270218
-
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
-
DOI 10.1093/hmg/ddi034
-
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet. 2005;14(3):385-90. (Pubitemid 40220655)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.3
, pp. 385-390
-
-
Benet-Pages, A.1
Orlik, P.2
Strom, T.M.3
Lorenz-Depiereux, B.4
-
31
-
-
17844402245
-
Rapid communication: A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis
-
DOI 10.1210/jc.2004-2238
-
Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, et al. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. J Clin Endocrinol Metab. 2005;90(4):2424-7. (Pubitemid 40586293)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.4
, pp. 2424-2427
-
-
Larsson, T.1
Yu, X.2
Davis, S.I.3
Draman, M.S.4
Mooney, S.D.5
Cullen, M.J.6
White, K.E.7
-
32
-
-
70449124261
-
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis
-
Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, et al. 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. 2009;94(11):4267-74.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, Issue.11
, pp. 4267-4274
-
-
Bergwitz, C.1
Banerjee, S.2
Abu-Zahra, H.3
Kaji, H.4
Miyauchi, A.5
Sugimoto, T.6
-
33
-
-
33749576547
-
The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis
-
DOI 10.1210/jc.2006-0305
-
Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, et al. The role of mutant UDP-N-acetyl-alpha-D-galactos-amine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis. J Clin Endocrinol Metab. 2006;91(10):4037-42. (Pubitemid 44536883)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.10
, pp. 4037-4042
-
-
Garringer, H.J.1
Fisher, C.2
Larsson, T.E.3
Davis, S.I.4
Koller, D.L.5
Cullen, M.J.6
Draman, M.S.7
Conlon, N.8
Jain, A.9
Fedarko, N.S.10
Dasgupta, B.11
White, K.E.12
-
34
-
-
0031035615
-
Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate-wasting disorder
-
DOI 10.1210/jc.82.2.674
-
Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997;82(2):674-81. (Pubitemid 27068650)
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, Issue.2
, pp. 674-681
-
-
Econs, M.J.1
McEnery, P.T.2
-
35
-
-
84880941446
-
Effect of ferric carboxymaltose on serum phosphate and C-terminal FGF23 levels in non-dialysis chronic kidney disease patients: Post-hoc analysis of a prospective study
-
A post-hoc analysis of a prospective study of nondialysis CKD patients with iron-deficiency anemia were administered a single injection of ferric carboxymaltose. The treatment reduced serum phosphate in patients for three months. Serum FGF23 levels were significantly reduced, and serum calcium, PTH and 1,25-dihyroxyvitamin D remained unchanged
-
• Prats M, Font R, Garcia C, Cabre C, Jariod M, Vea AM. Effect of ferric carboxymaltose on serum phosphate and C-terminal FGF23 levels in non-dialysis chronic kidney disease patients: post-hoc analysis of a prospective study. BMC Nephrol. 2013;14(1):167. A post-hoc analysis of a prospective study of nondialysis CKD patients with iron-deficiency anemia were administered a single injection of ferric carboxymaltose. The treatment reduced serum phosphate in patients for three months. Serum FGF23 levels were significantly reduced, and serum calcium, PTH and 1,25-dihyroxyvitamin D remained unchanged.
-
(2013)
BMC Nephrol
, vol.14
, Issue.1
, pp. 167
-
-
Prats, M.1
Font, R.2
Garcia, C.3
Cabre, C.4
Jariod, M.5
Vea, A.M.6
-
36
-
-
67650215157
-
FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: A prospective study
-
Schouten BJ, Hunt PJ, Livesey JH, Frampton CM, Soule SG. FGF23 elevation and hypophosphatemia after intravenous iron polymaltose: a prospective study. J Clin Endocrinol Metab. 2009;94(7):2332-7.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, Issue.7
, pp. 2332-2337
-
-
Schouten, B.J.1
Hunt, P.J.2
Livesey, J.H.3
Frampton, C.M.4
Soule, S.G.5
-
37
-
-
38449123062
-
The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays
-
DOI 10.1258/000456307781646102
-
Durham BH, Joseph F, Bailey LM, Fraser WD. The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays. Ann Clin Biochem. 2007;44(Pt 5):463-6. (Pubitemid 351724655)
-
(2007)
Annals of Clinical Biochemistry
, vol.44
, Issue.5
, pp. 463-466
-
-
Durham, B.H.1
Joseph, F.2
Bailey, L.M.3
Fraser, W.D.4
-
38
-
-
80655147297
-
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans
-
A link between iron deficiency and ADHR disease activity was made in this study that showed patients with ADHR had elevated iFGF23 and cFGF23 levels, which correlated inversely with serum iron concentrations. Only cFGF23 correlated inversely with serum iron in control patients, whereas reduced serum phosphate and 1,25D correlated with lower serum iron in ADHR
-
•• Imel EA, Peacock M, Gray AK, Padgett LR, Hui SL, Econs MJ. Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab. 2011;96:3541-9. A link between iron deficiency and ADHR disease activity was made in this study that showed patients with ADHR had elevated iFGF23 and cFGF23 levels, which correlated inversely with serum iron concentrations. Only cFGF23 correlated inversely with serum iron in control patients, whereas reduced serum phosphate and 1,25D correlated with lower serum iron in ADHR.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 3541-3549
-
-
Imel, E.A.1
Peacock, M.2
Gray, A.K.3
Padgett, L.R.4
Hui, S.L.5
Econs, M.J.6
-
39
-
-
81755163635
-
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
-
This paper identified the molecular mechanisms linking iron deficiency and FGF23, as well as uncovered FGF23 production and cleavage as two distinct levels of FGF23 regulation within bone. A low iron diet markedly increased bone transcription of FGF23 in normal mice, whereas knock-in mice carrying the R176Q-FGF23 ADHR mutation were resistant to proteolysis, resulting in elevated iFGF23 and a hypophosphatemic osteomalacia phenotype
-
•• Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, et al. 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. 2011;108(46):E1146-55. This paper identified the molecular mechanisms linking iron deficiency and FGF23, as well as uncovered FGF23 production and cleavage as two distinct levels of FGF23 regulation within bone. A low iron diet markedly increased bone transcription of FGF23 in normal mice, whereas knock-in mice carrying the R176Q-FGF23 ADHR mutation were resistant to proteolysis, resulting in elevated iFGF23 and a hypophosphatemic osteomalacia phenotype.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, Issue.46
-
-
Farrow, E.G.1
Yu, X.2
Summers, L.J.3
Davis, S.I.4
Fleet, J.C.5
Allen, M.R.6
-
40
-
-
34447120059
-
Regulation of iron homeostasis by the hypoxia-inducible transcription factors (HIFs)
-
DOI 10.1172/JCI31370
-
Peyssonnaux C, Zinkernagel AS, Schuepbach RA, Rankin E, Vaulont S, Haase VH, et al. Regulation of iron homeostasis by the hypoxia-inducible transcription factors (HIFs). J Clin Invest. 2007;117(7):1926-32. (Pubitemid 47036326)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.7
, pp. 1926-1932
-
-
Peyssonnaux, C.1
Zinkernagel, A.S.2
Schuepbach, R.A.3
Rankin, E.4
Vaulont, S.5
Haase, V.H.6
Nizet, V.7
Johnson, R.S.8
-
41
-
-
84881241741
-
Effects of iron deficiency anemia and its treatment on fibroblast growth factor 23 and phosphate homeostasis in women
-
In this randomized controlled trial of iron-deficient women it was demonstrated that iron deficiency reversibly stimulates FGF23 production as observed by different intravenous iron formulations. Iron dextran lowered cFGF23 levels with less of an effect on iFGF23, but ferric carboxymaltose raised iFGF23 and caused hypophosphatemia
-
• Wolf M, Koch TA, Bregman DB. Effects of iron deficiency anemia and its treatment on fibroblast growth factor 23 and phosphate homeostasis in women. J Bone Miner Res. 2013;28(8):1793-803. In this randomized controlled trial of iron-deficient women it was demonstrated that iron deficiency reversibly stimulates FGF23 production as observed by different intravenous iron formulations. Iron dextran lowered cFGF23 levels with less of an effect on iFGF23, but ferric carboxymaltose raised iFGF23 and caused hypophosphatemia.
-
(2013)
J Bone Miner Res
, vol.28
, Issue.8
, pp. 1793-1803
-
-
Wolf, M.1
Koch, T.A.2
Bregman, D.B.3
-
42
-
-
85047691059
-
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
-
DOI 10.1172/JCI200318399
-
Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003;112(5):683-92. (Pubitemid 38057709)
-
(2003)
Journal of Clinical Investigation
, vol.112
, Issue.5
, pp. 683-692
-
-
Riminucci, M.1
Collins, M.T.2
Fedarko, N.S.3
Cherman, N.4
Corsi, A.5
White, K.E.6
Waguespack, S.7
Gupta, A.8
Hannon, T.9
Econs, M.J.10
Bianco, P.11
Robey, P.G.12
-
43
-
-
84859886970
-
Mechanism of FGF23 processing in fibrous dysplasia
-
Bhattacharyya N, Wiench M, Dumitrescu C, Connolly BM, Bugge TH, Patel HV, et al. Mechanism of FGF23 processing in fibrous dysplasia. J Bone Miner Res. 2012;27(5):1132-41.
-
(2012)
J Bone Miner Res
, vol.27
, Issue.5
, pp. 1132-1141
-
-
Bhattacharyya, N.1
Wiench, M.2
Dumitrescu, C.3
Connolly, B.M.4
Bugge, T.H.5
Patel, H.V.6
-
44
-
-
84892698159
-
Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice
-
Clinkenbeard EL, Farrow EG, Summers LJ, Cass TA, Roberts JL, Bayt CA, et al. Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice. J Bone Miner Res. 2014;29(2):361-9.
-
(2014)
J Bone Miner Res
, vol.29
, Issue.2
, pp. 361-369
-
-
Clinkenbeard, E.L.1
Farrow, E.G.2
Summers, L.J.3
Cass, T.A.4
Roberts, J.L.5
Bayt, C.A.6
-
45
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium
-
HYP-Consortium
-
HYP-Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995;11(2):130-6.
-
(1995)
Nat Genet
, vol.11
, Issue.2
, pp. 130-136
-
-
-
46
-
-
0030938927
-
Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice
-
Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, et al. Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest. 1997;99(6):1200-9. (Pubitemid 27142755)
-
(1997)
Journal of Clinical Investigation
, vol.99
, Issue.6
, pp. 1200-1209
-
-
Beck, L.1
Soumounou, Y.2
Martel, J.3
Krishnamurthy, G.4
Gauthier, C.5
Goodyer, C.G.6
Tenenhouse, H.S.7
-
47
-
-
0035107364
-
Osteomalacia in Hyp mice is associated with abnormal Phex expression and with altered bone matrix protein expression and deposition
-
DOI 10.1210/en.142.2.926
-
Miao D, Bai X, Panda D, McKee M, Karaplis A, Goltzman D. Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. Endocrinology. 2001;142(2):926-39. (Pubitemid 32222443)
-
(2001)
Endocrinology
, vol.142
, Issue.2
, pp. 926-939
-
-
Miao, D.1
Bai, X.2
Panda, D.3
McKee, M.D.4
Karaplis, A.C.5
Goltzman, D.6
-
48
-
-
33745850756
-
Pathogenic role of Fgf23 in Hyp mice
-
DOI 10.1152/ajpendo.00008.2006
-
Liu S, Zhou J, Tang W, Jiang X, Rowe DW, Quarles LD. Pathogenic role of Fgf23 in Hyp mice. Am J Physiol Endocrinol Metab. 2006;291(1):E38-49. (Pubitemid 44035308)
-
(2006)
American Journal of Physiology - Endocrinology and Metabolism
, vol.291
, Issue.1
-
-
Liu, S.1
Zhou, J.2
Tang, W.3
Jiang, X.4
Rowe, D.W.5
Quarles, L.D.6
-
49
-
-
27844501565
-
Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice
-
DOI 10.1210/en.2005-0777
-
Perwad F, Azam N, Zhang MY, Yamashita T, Tenenhouse HS, Portale AA. Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology. 2005;146(12):5358- 64. (Pubitemid 41653049)
-
(2005)
Endocrinology
, vol.146
, Issue.12
, pp. 5358-5364
-
-
Perwad, F.1
Azam, N.2
Zhang, M.Y.H.3
Yamashita, T.4
Tenenhouse, H.S.5
Portale, A.A.6
-
50
-
-
84872857027
-
Hexa-D-Arginine treatment increases 7B2*PC2 activity in hypmouse osteoblasts and rescues the HYP phenotype
-
Yuan B, Feng JQ, Bowman S, Liu Y, Blank RD, Lindberg I, et al. Hexa-D-Arginine treatment increases 7B2*PC2 activity in hypmouse osteoblasts and rescues the HYP phenotype. J Bone Miner Res. 2012;28(1):56-72.
-
(2012)
J Bone Miner Res
, vol.28
, Issue.1
, pp. 56-72
-
-
Yuan, B.1
Feng, J.Q.2
Bowman, S.3
Liu, Y.4
Blank, R.D.5
Lindberg, I.6
-
51
-
-
84880919079
-
Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia
-
Ichikawa S, Gray AK, Bikorimana E, Econs MJ. Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia. Calcif Tissue Int. 2013;93(2):155-62.
-
(2013)
Calcif Tissue Int
, vol.93
, Issue.2
, pp. 155-162
-
-
Ichikawa, S.1
Gray, A.K.2
Bikorimana, E.3
Econs, M.J.4
-
52
-
-
3242656464
-
FGF23 is processed by proprotein convertases but not by PHEX
-
DOI 10.1016/j.bone.2004.04.002, PII S8756328204001619
-
Benet-Pages A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM. FGF23 is processed by proprotein convertases but not by PHEX. Bone. 2004;35(2):455-62. (Pubitemid 38953193)
-
(2004)
Bone
, vol.35
, Issue.2
, pp. 455-462
-
-
Benet-Pages, A.1
Lorenz-Depiereux, B.2
Zischka, H.3
White, K.E.4
Econs, M.J.5
Strom, T.M.6
-
53
-
-
84873962431
-
Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia
-
Barros NM, Hoac B, Neves RL, Addison WN, Assis DM, Murshed 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 Miner Res. 2013;28(3):688-99.
-
(2013)
J Bone Miner Res
, vol.28
, Issue.3
, pp. 688-699
-
-
Barros, N.M.1
Hoac, B.2
Neves, R.L.3
Addison, W.N.4
Assis, D.M.5
Murshed, M.6
-
54
-
-
77951626687
-
Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations
-
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab. 2010;95(4):1846-50.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, Issue.4
, pp. 1846-1850
-
-
Imel, E.A.1
DiMeglio, L.A.2
Hui, S.L.3
Carpenter, T.O.4
Econs, M.J.5
-
55
-
-
84856196884
-
A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells
-
The responsiveness of bone cells to extracellular phosphate was compared across three murine models: XLH (Phex-null (K496X)), hyperphosphatemic tumoral calcinosis (Galnt3-/-) and a Galnt3/Phex double-mutant model. Whereas Phex mutant mice displayed increased FGF23 expression, reduced cleavage of FGF23 and elevated intact FGF23, Galnt3 knockout mice had increased cleavage of FGF23, which accompanied low intact FGF23 concentrations and hyperphosphatemia. The double-mutant model displayed an intermediate phenotype, suggesting that Phex mutations alter bone cells responsiveness to extracellular phosphate and produce a lower set point for 'normal' phosphate levels
-
• Ichikawa S, Austin AM, Gray AK, Econs MJ. A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. J Bone Miner Res. 2012;27(2):453-60. The responsiveness of bone cells to extracellular phosphate was compared across three murine models: XLH (Phex-null (K496X)), hyperphosphatemic tumoral calcinosis (Galnt3-/-) and a Galnt3/Phex double-mutant model. Whereas Phex mutant mice displayed increased FGF23 expression, reduced cleavage of FGF23 and elevated intact FGF23, Galnt3 knockout mice had increased cleavage of FGF23, which accompanied low intact FGF23 concentrations and hyperphosphatemia. The double-mutant model displayed an intermediate phenotype, suggesting that Phex mutations alter bone cells responsiveness to extracellular phosphate and produce a lower set point for 'normal' phosphate levels.
-
(2012)
J Bone Miner Res
, vol.27
, Issue.2
, pp. 453-460
-
-
Ichikawa, S.1
Austin, A.M.2
Gray, A.K.3
Econs, M.J.4
-
56
-
-
33750454816
-
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
-
DOI 10.1038/ng1905, PII NG1905
-
Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006;38(11):1310-5. (Pubitemid 44646294)
-
(2006)
Nature Genetics
, vol.38
, Issue.11
, pp. 1310-1315
-
-
Feng, J.Q.1
Ward, L.M.2
Liu, S.3
Lu, Y.4
Xie, Y.5
Yuan, B.6
Yu, X.7
Rauch, F.8
Davis, S.I.9
Zhang, S.10
Rios, H.11
Drezner, M.K.12
Quarles, L.D.13
Bonewald, L.F.14
White, K.E.15
-
57
-
-
33750427897
-
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
-
DOI 10.1038/ng1868, PII NG1868
-
Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006;38(11):1248-50. (Pubitemid 44646286)
-
(2006)
Nature Genetics
, vol.38
, Issue.11
, pp. 1248-1250
-
-
Lorenz-Depiereux, B.1
Bastepe, M.2
Benet-Pages, A.3
Amyere, M.4
Wagenstaller, J.5
Muller-Barth, U.6
Badenhoop, K.7
Kaiser, S.M.8
Rittmaster, R.S.9
Shlossberg, A.H.10
Olivares, J.L.11
Loris, C.12
Ramos, F.J.13
Glorieux, F.14
Vikkula, M.15
Juppner, H.16
Strom, T.M.17
-
58
-
-
84875856363
-
A key pathological role for the Wnt/b-catenin signaling pathway in hypophosphatemic rickets/osteomalacia
-
Abstract. Available at
-
Lin S, Jiang Y, Zong Z, Liu M, Liu Y, Yuan B, et al. A key pathological role for the Wnt/b-catenin signaling pathway in hypophosphatemic rickets/osteomalacia. J Bone Miner Res. 2012;27(Suppl 1). Abstract. Available at http://www.asbmr.org/Meetings/AnnualMeeting/AbstractDetail.aspx?aid=51d4e88b- f79d-47e2-a15b-134f0c57b52e.
-
(2012)
J Bone Miner Res
, vol.27
, Issue.SUPPL. 1
-
-
Lin, S.1
Jiang, Y.2
Zong, Z.3
Liu, M.4
Liu, Y.5
Yuan, B.6
-
59
-
-
79251530211
-
The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment
-
Lu Y, Yuan B, Qin C, Cao Z, Xie Y, Dallas SL, et al. The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment. J Bone Miner Res. 2011;26(2):331-40.
-
(2011)
J Bone Miner Res
, vol.26
, Issue.2
, pp. 331-340
-
-
Lu, Y.1
Yuan, B.2
Qin, C.3
Cao, Z.4
Xie, Y.5
Dallas, S.L.6
-
60
-
-
84864553183
-
Protective roles of DMP1 in high phosphate homeostasis
-
Rangiani A, Cao Z, Sun Y, Lu Y, Gao T, Yuan B, et al. Protective roles of DMP1 in high phosphate homeostasis. PLoS One. 2012;7(8):e42329.
-
(2012)
PLoS One
, vol.7
, Issue.8
-
-
Rangiani, A.1
Cao, Z.2
Sun, Y.3
Lu, Y.4
Gao, T.5
Yuan, B.6
-
61
-
-
76049105171
-
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
-
Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010;86(2):267-72.
-
(2010)
Am J Hum Genet
, vol.86
, Issue.2
, pp. 267-272
-
-
Lorenz-Depiereux, B.1
Schnabel, D.2
Tiosano, D.3
Hausler, G.4
Strom, T.M.5
-
62
-
-
76049121613
-
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
-
Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010;86(2):273-8.
-
(2010)
Am J Hum Genet
, vol.86
, Issue.2
, pp. 273-278
-
-
Levy-Litan, V.1
Hershkovitz, E.2
Avizov, L.3
Leventhal, N.4
Bercovich, D.5
Chalifa-Caspi, V.6
-
63
-
-
80655149476
-
Ectonucleotide pyrophosphatase/phosphodiesterase-1 (Enpp1) regulates osteoblast differentiation
-
Nam HK, Liu J, Li Y, Kragor A, Hatch NE. Ectonucleotide pyrophosphatase/phosphodiesterase-1 (Enpp1) regulates osteoblast differentiation. J Biol Chem. 2011;286:39059-71.
-
(2011)
J Biol Chem
, vol.286
, pp. 39059-39071
-
-
Nam, H.K.1
Liu, J.2
Li, Y.3
Kragor, A.4
Hatch, N.E.5
-
64
-
-
84898917805
-
Effects of extracellular phosphate on gene expression in murine osteoblasts
-
Rendenbach C, Yorgan TA, Heckt T, Otto B, Baldauf C, Jeschke A, et al. Effects of extracellular phosphate on gene expression in murine osteoblasts. Calcif Tissue Int. 2014; 94(5):474-83.
-
(2014)
Calcif Tissue Int
, vol.94
, Issue.5
, pp. 474-483
-
-
Rendenbach, C.1
Yorgan, T.A.2
Heckt, T.3
Otto, B.4
Baldauf, C.5
Jeschke, A.6
-
65
-
-
84857130445
-
Altered bone development and an increase in FGF-23 expression in Enpp1(-/-) mice
-
Mackenzie NC, Zhu D, Milne EM, van't Hof R, Martin A, Darryl Quarles L, et al. Altered bone development and an increase in FGF-23 expression in Enpp1(-/-) mice. PLoS One. 2012;7(2):e32177.
-
(2012)
PLoS One
, vol.7
, Issue.2
-
-
Mackenzie, N.C.1
Zhu, D.2
Milne, E.M.3
Van't Hof, R.4
Martin, A.5
Darryl Quarles, L.6
-
66
-
-
84888020288
-
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome
-
An exome sequencing study of siblings with hypophosphatemia and dental mineralization abnormalities found compound heterozygous mutations in FAM20C, linking FGF23 and FAM20c in humans. Examination of the respective Norwegian background population found no other undiagnosed FAM20C mutations
-
• Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Am J Med Genet A. 2013;161A(12):3155-60. An exome sequencing study of siblings with hypophosphatemia and dental mineralization abnormalities found compound heterozygous mutations in FAM20C, linking FGF23 and FAM20c in humans. Examination of the respective Norwegian background population found no other undiagnosed FAM20C mutations.
-
(2013)
Am J Med Genet A
, vol.161 A
, Issue.12
, pp. 3155-3160
-
-
Ababneh, F.K.1
AlSwaid, A.2
Youssef, T.3
Al Azzawi, M.4
Crosby, A.5
AlBalwi, M.A.6
-
67
-
-
84878219688
-
Exome sequencing reveals FAM20cmutations associatedwith fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
-
Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, et al. Exome sequencing reveals FAM20cmutations associatedwith fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res. 2013;28(6):1378-85.
-
(2013)
J Bone Miner Res
, vol.28
, Issue.6
, pp. 1378-1385
-
-
Rafaelsen, S.H.1
Raeder, H.2
Fagerheim, A.K.3
Knappskog, P.4
Carpenter, T.O.5
Johansson, S.6
-
68
-
-
84863698813
-
Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice
-
This paper examined the FAM20C global KO and mineralized tissue conditional KO, and showed these mice develop hypophosphatemic rickets caused by elevations in FGF23 in serum and bone. In vitro experiments support FAM20C's role as a promoter of osteogenesis and regulator of DMP1 expression or function. This study implicated FAM20C as a key regulator of FGF23
-
• Wang X, Wang S, Li C, Gao T, Liu Y, Rangiani A, et al. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet. 2012;8(5):e1002708. This paper examined the FAM20C global KO and mineralized tissue conditional KO, and showed these mice develop hypophosphatemic rickets caused by elevations in FGF23 in serum and bone. In vitro experiments support FAM20C's role as a promoter of osteogenesis and regulator of DMP1 expression or function. This study implicated FAM20C as a key regulator of FGF23.
-
(2012)
PLoS Genet
, vol.8
, Issue.5
-
-
Wang, X.1
Wang, S.2
Li, C.3
Gao, T.4
Liu, Y.5
Rangiani, A.6
-
69
-
-
84861658918
-
Secreted kinase phosphorylates extracellular proteins that regulate biomineralization
-
This significant paper demonstrated that Fam20C belongs to a family of novel atypical protein kinases that localize within the Golgi apparatus and phosphorylate secreted proteins important for biomineralization carrying S-x-E motifs
-
•• Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, et al. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012;336(6085):1150-3. This significant paper demonstrated that Fam20C belongs to a family of novel atypical protein kinases that localize within the Golgi apparatus and phosphorylate secreted proteins important for biomineralization carrying S-x-E motifs.
-
(2012)
Science
, vol.336
, Issue.6085
, pp. 1150-1153
-
-
Tagliabracci, V.S.1
Engel, J.L.2
Wen, J.3
Wiley, S.E.4
Worby, C.A.5
Kinch, L.N.6
-
70
-
-
84865021971
-
The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins
-
Ishikawa HO, Xu A, Ogura E, Manning G, Irvine KD. The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. PLoS One. 2012;7(8):e42988.
-
(2012)
PLoS One
, vol.7
, Issue.8
-
-
Ishikawa, H.O.1
Xu, A.2
Ogura, E.3
Manning, G.4
Irvine, K.D.5
-
71
-
-
84898775593
-
Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis
-
This paper highlighted Fam20C as a novel regulator of FGF23, providing a new mechanism of FGF23 processing. FGF23 was found to be a direct substrate for phosphorylation by Fam20C, reducing O-glycosylation by GALNT3, which promotes FGF23 proteolysis by furin
-
•• Tagliabracci VS, Engel JL, Wiley SE, Xiao J, Gonzales DJ, Appaiah HN, et al. Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis. Proc Natl Acad Sci U S A. 2014;111(15):5520-5. This paper highlighted Fam20C as a novel regulator of FGF23, providing a new mechanism of FGF23 processing. FGF23 was found to be a direct substrate for phosphorylation by Fam20C, reducing O-glycosylation by GALNT3, which promotes FGF23 proteolysis by furin.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, Issue.15
, pp. 5520-5525
-
-
Tagliabracci, V.S.1
Engel, J.L.2
Wiley, S.E.3
Xiao, J.4
Gonzales, D.J.5
Appaiah, H.N.6
-
72
-
-
34548497123
-
Fibroblast growth factor 23 (FGF23) predicts progression of chronic kidney disease: The Mild to Moderate Kidney Disease (MMKD) Study
-
Fliser D, Kollerits B, Neyer U, Ankerst DP, Lhotta K, Lingenhel A, et al. Fibroblast growth factor 23 (FGF23) predicts progression of chronic kidney disease: the Mild to Moderate Kidney Disease (MMKD) Study. J Am Soc Nephrol. 2007;18(9):2600-8.
-
(2007)
J Am Soc Nephrol
, vol.18
, Issue.9
, pp. 2600-2608
-
-
Fliser, D.1
Kollerits, B.2
Neyer, U.3
Ankerst, D.P.4
Lhotta, K.5
Lingenhel, A.6
-
73
-
-
70450230670
-
Serum intact FGF23 associate with left ventricular mass, hypertrophy and geometry in an elderly population
-
Mirza MA, Larsson A, Melhus H, Lind L, Larsson TE. Serum intact FGF23 associate with left ventricular mass, hypertrophy and geometry in an elderly population. Atherosclerosis. 2009;207(2):546-51.
-
(2009)
Atherosclerosis
, vol.207
, Issue.2
, pp. 546-551
-
-
Mirza, M.A.1
Larsson, A.2
Melhus, H.3
Lind, L.4
Larsson, T.E.5
-
74
-
-
49249104701
-
Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis
-
Gutierrez OM, Mannstadt M, Isakova T, Rauh-Hain JA, Tamez H, Shah A, et al. Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis. N Engl J Med. 2008;359(6):584-92.
-
(2008)
N Engl J Med
, vol.359
, Issue.6
, pp. 584-592
-
-
Gutierrez, O.M.1
Mannstadt, M.2
Isakova, T.3
Rauh-Hain, J.A.4
Tamez, H.5
Shah, A.6
-
75
-
-
80555148939
-
FGF23 induces left ventricular hypertrophy
-
Faul C, Amaral AP, Oskouei B, Hu MC, Sloan A, Isakova T, et al. FGF23 induces left ventricular hypertrophy. J Clin Invest. 2011;121(11):4393-408.
-
(2011)
J Clin Invest
, vol.121
, Issue.11
, pp. 4393-4408
-
-
Faul, C.1
Amaral, A.P.2
Oskouei, B.3
Hu, M.C.4
Sloan, A.5
Isakova, T.6
-
76
-
-
84878487994
-
FGF23 is a novel regulator of intracellular calcium and cardiac contractility in addition to cardiac hypertrophy
-
Touchberry CD, Green TM, Tchikrizov V, Mannix JE, Mao TF, Carney BW, et al. FGF23 is a novel regulator of intracellular calcium and cardiac contractility in addition to cardiac hypertrophy. Am J Physiol Endocrinol Metab. 2013;304(8):E863-73.
-
(2013)
Am J Physiol Endocrinol Metab
, vol.304
, Issue.8
-
-
Touchberry, C.D.1
Green, T.M.2
Tchikrizov, V.3
Mannix, J.E.4
Mao, T.F.5
Carney, B.W.6
-
77
-
-
84906328514
-
Cinacalcet decreases FGF23 levels in prevalent dialysis patients compared with placebo
-
Investigators E
-
Moe SM, Investigators E. Cinacalcet decreases FGF23 levels in prevalent dialysis patients compared with placebo. J Am Soc Nephrol. 2014;TH-ORO23.
-
(2014)
J Am Soc Nephrol
-
-
Moe, S.M.1
-
78
-
-
76149101238
-
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active
-
Shimada T, Urakawa I, Isakova T, Yamazaki Y, Epstein M, Wesseling-Perry K, et al. 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. 2010;95(2):578-85.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, Issue.2
, pp. 578-585
-
-
Shimada, T.1
Urakawa, I.2
Isakova, T.3
Yamazaki, Y.4
Epstein, M.5
Wesseling-Perry, K.6
-
79
-
-
84885300497
-
Plasma FGF23 levels increase rapidly after acute kidney injury
-
In response to acute kidney injury, both human and rodents showed increased circulating levels of FGF23 independent of other known stimuli of FGF23 production. The findings suggest that the rapid increases in iFGF23 and cFGF23 may be due to an additional level of FGF23 regulation, including decreased iFGF23 cleavage
-
• Christov M, Waikar SS, Pereira RC, Havasi A, Leaf DE, Goltzman D, et al. Plasma FGF23 levels increase rapidly after acute kidney injury. Kidney Int. 2013;84(4):776-85. In response to acute kidney injury, both human and rodents showed increased circulating levels of FGF23 independent of other known stimuli of FGF23 production. The findings suggest that the rapid increases in iFGF23 and cFGF23 may be due to an additional level of FGF23 regulation, including decreased iFGF23 cleavage.
-
(2013)
Kidney Int
, vol.84
, Issue.4
, pp. 776-785
-
-
Christov, M.1
Waikar, S.S.2
Pereira, R.C.3
Havasi, A.4
Leaf, D.E.5
Goltzman, D.6
-
80
-
-
34848871595
-
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
-
DOI 10.1172/JCI31330
-
Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest. 2007;117(9):2684-91. (Pubitemid 47494368)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.9
, pp. 2684-2691
-
-
Ichikawa, S.1
Imel, E.A.2
Kreiter, M.L.3
Yu, X.4
Mackenzie, D.S.5
Sorenson, A.H.6
Goetz, R.7
Mohammadi, M.8
White, K.E.9
Econs, M.J.10
-
81
-
-
42149130855
-
A translocation causing increased alpha-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
-
DOI 10.1073/pnas.0712361105
-
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, et al. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A. 2008;105(9):3455-60. (Pubitemid 351723574)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.9
, pp. 3455-3460
-
-
Brownstein, C.A.1
Adler, F.2
Nelson-Williams, C.3
Iijima, J.4
Li, P.5
Imura, A.6
Nabeshima, Y.-I.7
Reyes-Mugica, M.8
Carpenter, T.O.9
Lifton, R.P.10
-
82
-
-
84870488179
-
Circulating alphaKlotho influences phosphate handling by controlling FGF23 production
-
This paper highlighted that cKL, a cleavage product of the FGF23 co-receptor αKlotho, stimulates bone FGF23 production resulting in hypophosphatemia, hypocalcemia, and osteomalacia. This phenotype mirrors a patient with a KL translocation characterized by a metabolic bone syndrome due to increased FGF23
-
• Smith RC, O'Bryan LM, Farrow EG, Summers LJ, Clinkenbeard EL, Roberts JL, et al. Circulating alphaKlotho influences phosphate handling by controlling FGF23 production. J Clin Invest. 2012;122(12):4710-5. This paper highlighted that cKL, a cleavage product of the FGF23 co-receptor αKlotho, stimulates bone FGF23 production resulting in hypophosphatemia, hypocalcemia, and osteomalacia. This phenotype mirrors a patient with a KL translocation characterized by a metabolic bone syndrome due to increased FGF23.
-
(2012)
J Clin Invest
, vol.122
, Issue.12
, pp. 4710-4715
-
-
Smith, R.C.1
O'Bryan, L.M.2
Farrow, E.G.3
Summers, L.J.4
Clinkenbeard, E.L.5
Roberts, J.L.6
-
83
-
-
33644869881
-
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia [4]
-
DOI 10.1002/ajmg.a.31106
-
Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, et al. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Am JMed Genet A. 2006;140(5):537-9. (Pubitemid 43376329)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.5
, pp. 537-539
-
-
Farrow, E.G.1
Davis, S.I.2
Atooney, S.D.3
Beighton, P.4
Mascarenhas, L.5
Gutierrez, Y.R.6
Pitukcheewanont, P.7
White, K.E.8
-
84
-
-
19944430581
-
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
-
DOI 10.1086/427956
-
White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, et al.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005;76(2):361-7. (Pubitemid 40129563)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.2
, pp. 361-367
-
-
White, K.E.1
Cabral, J.M.2
Davis, S.I.3
Fishburn, T.4
Evans, W.E.5
Ichikawa, S.6
Fields, J.7
Yu, X.8
Shaw, N.J.9
McLellan, N.J.10
McKeown, C.11
FitzPatrick, D.12
Yu, K.13
Ornitz, D.M.14
Econs, M.J.15
-
85
-
-
84872874858
-
Nuclear fibroblast growth factor 2 (FGF2) isoforms inhibit bone marrow stromal cell mineralization through FGF23/FGFR/MAPK in vitro
-
Xiao L, Esliger A, Hurley MM. Nuclear fibroblast growth factor 2 (FGF2) isoforms inhibit bone marrow stromal cell mineralization through FGF23/FGFR/MAPK in vitro. J Bone Miner Res. 2013;28(1):35-45.
-
(2013)
J Bone Miner Res
, vol.28
, Issue.1
, pp. 35-45
-
-
Xiao, L.1
Esliger, A.2
Hurley, M.M.3
-
86
-
-
84897560527
-
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
-
This randomized Phase1-2 trial tested an anti-FGF23 monoclonal neutralizing antibody for treatment of XLH and patients showed increased TMP/GFR, serum phosphate, and calcitriol
-
• Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, et al. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest. 2014;124(4):1587-97. This randomized Phase1-2 trial tested an anti-FGF23 monoclonal neutralizing antibody for treatment of XLH and patients showed increased TMP/GFR, serum phosphate, and calcitriol.
-
(2014)
J Clin Invest
, vol.124
, Issue.4
, pp. 1587-1597
-
-
Carpenter, T.O.1
Imel, E.A.2
Ruppe, M.D.3
Weber, T.J.4
Klausner, M.A.5
Wooddell, M.M.6
|