Recent Literature
2007
Liu S, Rowe PS, Vierthaler L, Zhou J, Quarles LD. 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(1):261-7. 2007 Jan.
PubMed
ID: 17210763
2006
de Menezes Filho H, de Castro LC, Damiani D. Hypophosphatemic rickets and osteomalacia.
Arq Bras Endocrinol Metabol. 50(4):802-13. 2006 Aug.
PubMed
ID: 17117305
Boukpessi T, Septier D, Bagga S, Garabedian M, Goldberg M, Chaussain-Miller C. Dentin alteration of deciduous teeth in human hypophosphatemic rickets.
Calcif Tissue Int. 79(5):294-300. 2006 Nov.
PubMed
ID: 17115324
Uno JK, Kolek OI, Hines ER, Xu H, Timmermann BN, Kiela PR, Ghishan FK. The role of tumor necrosis factor alpha in down-regulation of osteoblast Phex gene expression in experimental murine colitis.
Gastroenterology. 131(2):497-509. 2006 Aug.
PubMed
ID: 16890604
Baum M, Syal A, Quigley R, Seikaly M. Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia.
Pediatr Nephrol. 21(8):1067-74. 2006 Aug.
PubMed
ID: 16721588
Lo FS, Kuo MT, Wang CJ, Chang CH, Lee ZL, Van YH. Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Nephron Physiol. 103(4):p157-63. 2006.
PubMed
ID: 16636593
Liu S, Zhou J, Tang W, Jiang X, Rowe DW, Quarles LD. Pathogenic role of Fgf23 in Hyp mice.
Am J Physiol Endocrinol Metab. 291(1):E38-49. 2006 Jul.
PubMed
ID: 16449303
Baroncelli GI, Bertelloni S, Sodini F, Galli L, Vanacore T, Fiore L, Saggese G. Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.
Pediatr Endocrinol Rev. 1(4):361-79. 2004 Jun.
PubMed
ID: 16437029
Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.
J Clin Endocrinol Metab. 91(2):365-70. 2006 Feb.
PubMed
ID: 16303832
Gu G, Nars M, Hentunen TA, Metsikko K, Vaananen HK. Isolated primary osteocytes express functional gap junctions in vitro.
Cell Tissue Res. 323(2):263-71. 2006 Feb.
PubMed
ID: 16175387
2005
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. 146(12):5358-64. 2005 Dec.
PubMed
ID: 16123154
Alos N, Ecarot B. Downregulation of osteoblast Phex expression by PTH.
Bone. 37(4):589-98. 2005 Oct.
PubMed
ID: 16084134
Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y. A clinical and molecular genetic study of hypophosphatemic rickets in children.
Pediatr Res. 58(2):329-33. 2005 Aug.
PubMed
ID: 16055933
Tenenhouse HS. Regulation of phosphorus homeostasis by the type iia na/phosphate cotransporter.
Annu Rev Nutr. 25:197-214. 2005.
PubMed
ID: 16011465
Ogawa T, Onishi T, Hayashibara T, Sakashita S, Okawa R, Ooshima T. Dentinal defects in Hyp mice not caused by hypophosphatemia alone.
Arch Oral Biol. 2005 Jul 7; [Epub ahead of print]
PubMed
ID: 16005844
Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes.
Proc Natl Acad Sci U S A. 102(27):9637-42. 2005 Jul 5.
PubMed
ID: 15976027
Beraud G, Perimenis P, Velayoudom FL, Wemeau JL, Vantyghem MC. Genetic hypophosphatemia: recent advances in physiopathogenic concept.
Ann Endocrinol (Paris). 66(2 Pt 1):109-16. Review. 2005 Apr.
PubMed
ID: 15959411
Matsumoto N, Jo OD, Shih RN, Brochmann EJ, Murray SS, Hong V, Yanagawa J, Yanagawa N. Increased cathepsin D release by Hyp mouse osteoblast cells.
Am J Physiol Endocrinol Metab. 289(1):E123-32. 2005 Jul.
PubMed
ID: 15958652
Erben RG, Mayer D, Weber K, Jonsson K, Juppner H, Lanske B. Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.
J Bone Miner Res. 20(7):1149-60. 2005 Jul.
PubMed
ID: 15940367
Matsumoto N, Jo OD, Shih RN, Yanagawa N. Altered cathepsin D metabolism in PHEX antisense human osteoblast cells.
Biochem Biophys Res Commun. 332(1):248-53. 2005 Jun 24.
PubMed
ID: 15896324
Liu S, Brown TA, Zhou J, Xiao ZS, Awad H, Guilak F, Quarles LD. Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia.
J Am Soc Nephrol. 16(6):1645-53. 2005 Jun.
PubMed
ID: 15843468
Chou YY, Chao SC, Tsai SC, Lin SJ. Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.
J Formos Med Assoc. 104(3):198-202 2005 Mar.
PubMed
ID: 15818436
David JP, Mehic D, Bakiri L, Schilling AF, Mandic V, Priemel M, Idarraga MH, Reschke MO, Hoffmann O, Amling M, Wagner EF. Essential role of RSK2 in c-Fos-dependent osteosarcoma development.
J Clin Invest. 115(3):664-72 2005 Mar.
PubMed
ID: 15719069
Chou YY, Chao SC, Shiue CN, Tsai WH, Lin SJ. Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus.
J Pediatr Endocrinol Metab. 18(1):93-5 2005 Jan.
PubMed
ID: 15679074
Rowe PS, Garrett IR, Schwarz PM, Carnes DL, Lafer EM, Mundy GR, Gutierrez GE. Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP).
Bone. 36(1):33-46 2005 Jan.
PubMed
ID: 15664000
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Hum Mol Genet. 1;14(3):385-90 2005 Feb
PubMed
ID: 15590700
2004
Takeda E, Taketani Y, Sawada N, Sato T, Yamamoto H. The regulation and function of phosphate in the human body.
Biofactors. 21(1-4):345-55 2004
PubMed
ID: 15630224
Sitara D, Razzaque MS, Hesse M, Yoganathan S, Taguchi T, Erben RG, Juppner H, Lanske B. Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice.
Matrix Biol. 23(7):421-32 2004 Nov.
PubMed
ID: 15579309
Mirams M, Robinson BG, Mason RS, Nelson AE. Bone as a source of FGF23: regulation by phosphate?
Bone. 35(5):1192-9 2004 Nov.
PubMed
ID: 15542045
Rowe PS. The wrickkened pathways of FGF23, MEPE and PHEX.
Crit Rev Oral Biol Med. 01;15(5):264-81 2004 Sep.
PubMed
ID: 15470265
von Stechow D, Zurakowski D, Pettit AR, Muller R, Gronowicz G, Chorev M, Otu H, Libermann T, Alexander JM. Differential transcriptional effects of PTH and estrogen during anabolic bone formation.
J Cell Biochem. 15;93(3):476-90 2004 Oct.
PubMed
ID: 15372627
Hines ER, Kolek OI, Jones MD, Serey SH, Sirjani NB, Kiela PR, Jurutka PW, Haussler MR, Collins JF, Ghishan FK. 1,25-dihydroxyvitamin D3 down-regulation of PHEX gene expression is mediated by apparent repression of a 110 kDa transfactor that binds to a polyadenine element in the promoter.
J Biol Chem. 279(45):46406-14 2004 Nov.
PubMed
ID: 15337762
Negri AL, Bogado CE, Zanchetta JR. Bone densitometry in a patient with hypophosphatemic osteomalacia.
J Bone Miner Metab. 22(5):514-7 2004
PubMed
ID: 15316875
Benet-Pages A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, and Strom TM. FGF23 is processed by proprotein convertases but not by PHEX.
Bone. 35(2):455-62 2004 Aug
PubMed
ID: 15268897
Takeda E, Yamamoto H, Nashiki K, Sato T, Arai H, and Taketani Y. Inorganic phosphate homeostasis and the role of dietary phosphorus.
J Cell Mol Med. 8(2):191-200 2004 Apr-Jun
PubMed
ID: 15256067
Blumsohn A. What have we learnt about the regulation of phosphate metabolism?
Curr Opin Nephrol Hypertens. 13(4):397-401 2004 Jul
PubMed
ID: 15199289
Pronicka E, Popowska E, Rowinska E, Arasimowicz E, Syczewska M, Jurkiewicz D, and Lebiedowski M. Anthropometric characteristics of X-linked hypophosphatemia.
Am J Med Genet.126A(2):141-9. 2004 Apr
PubMed
ID: 15057978
Meyer MH, Dulde E, and Meyer RA Jr. The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia.
Physiol Genomics. 18(1):4-11 2004 Jun
PubMed
ID: 15054142
Miao D, Bai X, Panda DK, Karaplis AC, Goltzman D, and McKee MD. Cartilage abnormalities are associated with abnormal Phex expression and with altered matrix protein and MMP-9 localization in Hyp mice.
Bone. 34(4):638-47 2004 Apr
PubMed
ID: 15050894
Lorenz-Depiereux B, Guido VE, Johnson KR, Zheng QY, Gagnon LH, Bauschatz JD, Davisson MT, Washburn LL, Donahue LR, Strom TM, and Eicher EM.
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.
Mamm Genome. 15(3):151-61 2004 Mar
PubMed
ID: 15029877
Schmitt CP, and Mehls O. The enigma of hyperparathyroidism in hypophosphatemic rickets.
Pediatr Nephrol. 19(5):473-7 2004 May
PubMed
ID: 15015068
Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse HS. Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice.
Bone. 34(1):134-9 2004 Jan
PubMed
ID: 14751570
Brame LA, White KE, and Econs MJ. Renal phosphate wasting disorders: clinical features and pathogenesis.
Semin Nephrol. 24(1):39-47. Review 2004 Jan
PubMed
ID: 14730508
Brewer AJ, Canaff L, Hendy GN and Tenenhouse HS. Differential regulation of PHEX expression in bone and parathyroid gland by chronic renal insufficiency and 1,25-dihydroxyvitamin D3.
Am J Physiol Renal Physiol. 286(4):F739-48 2004 Apr
PubMed
ID: 14693675
Schiavi SC and Kumar R. The phosphatonin pathway: New insights in phosphate homeostasis.
Kidney Int 65(1): 1-14 2004 Jan
PubMed
ID: 14675031
Ito M, Akai E, Izuka M, Segawa H, Kuwahata M, and Miyamoto K. Cloning and characterization of three PHEX homologues in Drosophila.
J Bone Miner Metab 22(1): 3-11 2004
PubMed
ID: 14691680
2003
Ritz E, Haxsen V, and Zeier M. Disorders of phosphate metabolism-pathomechanisms and management of hypophosphataemic disorders.
Best Pract Res Clin Endocrinol Metab 17(4): 547-58 2003 Dec
PubMed
ID: 14687588
Schutt SM, Schumacher M, Holterhus PM, Felgenhauer S, and Hiort O. Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency.
Eur J Endocrinol 149(4):317-21 2003 Oct
PubMed
ID: 14514346
Vargas MA, St-Louis M, Desgroseillers L, Charli JL, and Boileau G. Parathyroid Hormone-Related Protein(1-34) Regulates Phex Expression in
Osteoblasts Through the Protein Kinase A Pathway. Endocrinology 144(11):4876-85 2003 Nov
PubMed
ID: 12960044
Tenenhouse HS, Martel J, Gauthier C, Segawa H, and Miyamoto KI.Differential effects of Npt2a gene ablation and the X-linked Hyp mutation on renal expression of type IIc Na/Pi cotransporter.
Am J Physiol Renal Physiol 285(6):F1271-8 2003 Dec
PubMed
ID: 12952859
Kida Y. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Eng J Med 349(5):505-6 2003 July
PubMed
ID: 12890852
Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, and Quarles LD. Regulation of
FGF23 expression but not degradation by phex. J Biol Chem 278(39): 37419-26 2003 Sept
PubMed
ID: 12874285
Weber TJ, Liu S, Indridason OS, and Quales LD. Serum FGF23 levels in normal and disordered phosphorus homeostasis. J Bone Miner Res. 18(7):1227-34 2003 July
PubMed
ID: 12854832
Quarles LD. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab. 285(1):E1-9 2003 July
PubMed
ID: 12791601
Sabbagh Y, Boileau G, Campos M, Carmona AK, and Tenenhouse HS. Structure and function of disease-causing missense mutations in the PHEX gene.
J Clin Endocriol. 88(5):2213-22 2003 May
PubMed
ID: 12727977
Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, and Juppner H. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.
N Eng J Med. 348(17):1656-63 2003 Apr
PubMed
ID: 12711740
Campos M, Couture C, Hirata IY, Juliano MA, Loisel TP, Crine P, Juliano L, Boileau G, and Carmona AK. Human recombinant PHEX has a strict S1' specificity for acidic residues and cleaves peptides derived from FGF-23 and MEPE.
Biochem J. 373(Pt 1):271-9 2003 Jul 1.
PubMed
ID: 12678920
2002
Sabbagh Y, Gauthier C, and Tenenhouse HS. The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex.
Cytogenet Genome Res 99(1-4):344-9 2002
PubMed
ID: 12900584
Bai X, Miao D, Panda D, Grady S, McKee MD, Goltzman D, and Karaplis AC.
Partial Rescue of the Hyp Phenotype by Osteoblast-Targeted PHEX
(Phosphate-Regulating Gene with Homologies to Endopeptidases on the X
Chromosome) Expression. Mol Endocrinol. 16(12):2913-25 2002 Dec PubMed
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Carpinelli MR, Wicks IP, Sims NA, O'Donnell K, Hanzinikolas K, Burt R, Foote
SJ, Bahlo M, Alexander WS, and Hilton DJ. An ethyl-nitrosourea-induced point
mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.
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Dubois SG, Ruchon AF, Delalandre A, Boileau G, and Lajeunesse D. Role of
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Guo R, Rowe PS, Liu S, Simpson LG, Xiao ZS, and Quarles LD. Inhibition of
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Xie W, Mechin MC, Dubois SG, Lajeunesse D, and van de Werve G. Up-regulation
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Tenenhouse HS, and Sabbagh Y. Novel phosphate-regulating genes in the
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2002 Jun PubMed ID: 12111239
Hines ER, Collins JF, Jones MD, Serey SH, Ghishan FK. Glucocorticoid
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Bianchetti L, Oudet C, Poch O. M13 endopeptidases: New conserved motifs
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Westbroek I, De Rooij KE, Nijweide PJ. Osteocyte-specific monoclonal antibody
MAb OB7.3 is directed against Phex protein. J Bone Miner Res. 17(5):845-53 2002
May PubMed ID: 12009015
Thompson DL, Sabbagh Y, Tenenhouse HS, Roche PC, Drezner MK, Salisbury JL,
Grande JP, Poeschla EM, and Kumar R. Ontogeny of Phex/PHEX protein expression in
mouse embryo and subcellular localization in osteoblasts. J Bone Miner Res.
17(2):311-20 2002 Feb. PubMed ID:
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Shih NR, Jo OD, and Yanagawa N. Effects of PHEX Antisense in Human Osteoblast
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Zoidis E, Gosteli-Peter M, Ghirlanda-Keller C, Meinel L, Zapf J, and Schmid
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Liu S, Guo R, Tu Q, and Quarles LD. Overexpression of Phex in osteoblasts
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2001
Tanaka H. Hypophosphatemia and rickets/osteomalacia. Clin Calcium. 11(10):1282-9 2001 Oct.
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X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.
J Appl Genet 42(1): 73-88 2001
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John MR, Wickert H, Zaar K, Jonsson KB, Grauer A, Ruppersberger P,
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Liu S, Guo R, and Quarles LD. Cloning and characterization of the proximal
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Sabbagh Y, Boileau G, DesGroseillers L, and Tenenhouse HS. Disease-causing
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2000
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1999
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data maintained by: Dr. Y. Sabbagh and Dr. H. S. Tenenhouse
©1999 Debelle Data Group