{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:29:11Z","timestamp":1783477751984,"version":"3.55.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T00:00:00Z","timestamp":1369267200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1007\/s00223-013-9736-4","type":"journal-article","created":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T01:53:55Z","timestamp":1369187635000},"page":"155-162","source":"Crossref","is-referenced-by-count":19,"title":["Dosage Effect of a Phex Mutation in a Murine Model of X-Linked Hypophosphatemia"],"prefix":"10.1007","volume":"93","author":[{"given":"Shoji","family":"Ichikawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amie K.","family":"Gray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Bikorimana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Econs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,5,23]]},"reference":[{"key":"9736_CR1","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.bone.2008.02.014","volume":"42","author":"I Endo","year":"2008","unstructured":"Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D, Minagawa M, Sugimoto T, Yamauchi M, Michigami T, Matsumoto T (2008) Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone 42:1235\u20131239","journal-title":"Bone"},{"key":"9736_CR2","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1056\/NEJMoa020881","volume":"348","author":"KB Jonsson","year":"2003","unstructured":"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, Juppner H (2003) Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 348:1656\u20131663","journal-title":"N Engl J Med"},{"key":"9736_CR3","doi-asserted-by":"crossref","first-page":"4957","DOI":"10.1210\/jc.2002-021105","volume":"87","author":"Y Yamazaki","year":"2002","unstructured":"Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S (2002) Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets\/osteomalacia. J Clin Endocrinol Metab 87:4957\u20134960","journal-title":"J Clin Endocrinol Metab"},{"key":"9736_CR4","doi-asserted-by":"crossref","first-page":"6120","DOI":"10.1074\/jbc.C500457200","volume":"281","author":"H Kurosu","year":"2006","unstructured":"Kurosu H, Ogawa Y, Miyoshi M, Yamamoto M, Nandi A, Rosenblatt KP, Baum MG, Schiavi S, Hu MC, Moe OW, Kuro-o M (2006) Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 281:6120\u20136123","journal-title":"J Biol Chem"},{"key":"9736_CR5","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/nature05315","volume":"444","author":"I Urakawa","year":"2006","unstructured":"Urakawa I, Yamazaki Y, Shimada T, Iijima K, Hasegawa H, Okawa K, Fujita T, Fukumoto S, Yamashita T (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 444:770\u2013774","journal-title":"Nature"},{"key":"9736_CR6","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1359\/JBMR.0301264","volume":"19","author":"T Shimada","year":"2004","unstructured":"Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T (2004) FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 19:429\u2013435","journal-title":"J Bone Miner Res"},{"key":"9736_CR7","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1210\/en.2003-1768","volume":"145","author":"T Larsson","year":"2004","unstructured":"Larsson T, Marsell R, Schipani E, Ohlsson C, Ljunggren O, Tenenhouse HS, Juppner H, Jonsson KB (2004) Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology 145:3087\u20133094","journal-title":"Endocrinology"},{"key":"9736_CR8","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng1095-130","volume":"11","author":"HYP Consortium","year":"1995","unstructured":"HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130\u2013136","journal-title":"Nat Genet"},{"key":"9736_CR9","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.bone.2008.06.002","volume":"43","author":"S Ichikawa","year":"2008","unstructured":"Ichikawa S, Traxler EA, Estwick SA, Curry LR, Johnson ML, Sorenson AH, Imel EA, Econs MJ (2008) Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets. Bone 43:663\u2013666","journal-title":"Bone"},{"key":"9736_CR10","doi-asserted-by":"crossref","first-page":"4075","DOI":"10.1210\/jc.81.11.4075","volume":"81","author":"MP Whyte","year":"1996","unstructured":"Whyte MP, Schranck FW, Armamento-Villareal R (1996) X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 81:4075\u20134080","journal-title":"J Clin Endocrinol Metab"},{"key":"9736_CR11","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1148\/radiology.171.2.2539609","volume":"171","author":"DC Hardy","year":"1989","unstructured":"Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP (1989) X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 171:403\u2013414","journal-title":"Radiology"},{"key":"9736_CR12","doi-asserted-by":"crossref","first-page":"3889","DOI":"10.1210\/jc.86.8.3889","volume":"86","author":"IA Holm","year":"2001","unstructured":"Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO (2001) Mutational analysis and genotype\u2013phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86:3889\u20133899","journal-title":"J Clin Endocrinol Metab"},{"key":"9736_CR13","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1097\/00005792-198911000-00002","volume":"68","author":"IR Reid","year":"1989","unstructured":"Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP (1989) X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine (Baltimore) 68:336\u2013352","journal-title":"Medicine (Baltimore)"},{"key":"9736_CR14","first-page":"434","volume":"46","author":"ED Shields","year":"1990","unstructured":"Shields ED, Scriver CR, Reade T, Fujiwara TM, Morgan K, Ciampi A, Schwartz S (1990) X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney. Am J Hum Genet 46:434\u2013442","journal-title":"Am J Hum Genet"},{"key":"9736_CR15","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1016\/S0002-9440(10)64468-9","volume":"161","author":"MR Carpinelli","year":"2002","unstructured":"Carpinelli MR, Wicks IP, Sims NA, O\u2019Donnell K, Hanzinikolas K, Burt R, Foote SJ, Bahlo M, Alexander WS, Hilton DJ (2002) An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, X-linked hypophosphatemia, and rickets. Am J Pathol 161:1925\u20131933","journal-title":"Am J Pathol"},{"key":"9736_CR16","doi-asserted-by":"crossref","first-page":"4667","DOI":"10.1073\/pnas.73.12.4667","volume":"73","author":"EM Eicher","year":"1976","unstructured":"Eicher EM, Southard JL, Scriver CR, Glorieux FH (1976) Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D\u2013resistant) rickets. Proc Natl Acad Sci USA 73:4667\u20134671","journal-title":"Proc Natl Acad Sci USA"},{"key":"9736_CR17","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s00335-003-2310-z","volume":"15","author":"B Lorenz-Depiereux","year":"2004","unstructured":"Lorenz-Depiereux B, Guido VE, Johnson KR, Zheng QY, Gagnon LH, Bauschatz JD, Davisson MT, Washburn LL, Donahue LR, Strom TM, Eicher EM (2004) New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. Mamm Genome 15:151\u2013161","journal-title":"Mamm Genome"},{"key":"9736_CR18","doi-asserted-by":"crossref","first-page":"4899","DOI":"10.1073\/pnas.83.13.4899","volume":"83","author":"MF Lyon","year":"1986","unstructured":"Lyon MF, Scriver CR, Baker LR, Tenenhouse HS, Kronick J, Mandla S (1986) The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci USA 83:4899\u20134903","journal-title":"Proc Natl Acad Sci USA"},{"key":"9736_CR19","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1093\/hmg\/6.2.165","volume":"6","author":"TM Strom","year":"1997","unstructured":"Strom TM, Francis F, Lorenz B, Boddrich A, Econs MJ, Lehrach H, Meitinger T (1997) Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6:165\u2013171","journal-title":"Hum Mol Genet"},{"key":"9736_CR20","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1159\/000071613","volume":"99","author":"Y Sabbagh","year":"2002","unstructured":"Sabbagh Y, Gauthier C, Tenenhouse HS (2002) 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 99:344\u2013349","journal-title":"Cytogenet Genome Res"},{"key":"9736_CR21","doi-asserted-by":"crossref","first-page":"2432","DOI":"10.1002\/jcb.24115","volume":"113","author":"C Owen","year":"2012","unstructured":"Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE (2012) A novel Phex mutation in a new mouse model of hypophosphatemic rickets. J Cell Biochem 113:2432\u20132441","journal-title":"J Cell Biochem"},{"key":"9736_CR22","doi-asserted-by":"crossref","first-page":"5245","DOI":"10.1158\/0008-5472.CAN-04-0496","volume":"64","author":"CL Andersen","year":"2004","unstructured":"Andersen CL, Jensen JL, Orntoft TF (2004) Normalization of real-time quantitative reverse transcription-PCR data: a model-based variance estimation approach to identify genes suited for normalization, applied to bladder and colon cancer data sets. Cancer Res 64:5245\u20135250","journal-title":"Cancer Res"},{"key":"9736_CR23","doi-asserted-by":"crossref","first-page":"R235","DOI":"10.1016\/S0960-9822(99)80151-1","volume":"9","author":"MF Lyon","year":"1999","unstructured":"Lyon MF (1999) X-chromosome inactivation. Curr Biol 9:R235\u2013R237","journal-title":"Curr Biol"},{"key":"9736_CR24","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s003359901007","volume":"10","author":"L Wang","year":"1999","unstructured":"Wang L, Du L, Ecarot B (1999) Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia. Mamm Genome 10:385\u2013389","journal-title":"Mamm Genome"},{"key":"9736_CR25","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.bone.2003.09.004","volume":"34","author":"ZQ Qiu","year":"2004","unstructured":"Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse HS (2004) Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice. Bone 34:134\u2013139","journal-title":"Bone"},{"key":"9736_CR26","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1017\/S0016672300031542","volume":"62","author":"ZQ Qiu","year":"1993","unstructured":"Qiu ZQ, Tenenhouse HS, Scriver CR (1993) Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. Genet Res 62:39\u201343","journal-title":"Genet Res"},{"key":"9736_CR27","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.bone.2012.10.012","volume":"52","author":"E Durmaz","year":"2012","unstructured":"Durmaz E, Zou M, Al-Rijjal RA, Baitei EY, Hammami S, Bircan I, Akcurin S, Meyer B, Shi Y (2012) Novel and de novo PHEX mutations in patients with hypophosphatemic rickets. Bone 52:286\u2013291","journal-title":"Bone"},{"key":"9736_CR28","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.bone.2004.04.002","volume":"35","author":"A Benet-Pages","year":"2004","unstructured":"Benet-Pages A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM (2004) FGF23 is processed by proprotein convertases but not by PHEX. Bone 35:455\u2013462","journal-title":"Bone"},{"key":"9736_CR29","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1359\/jbmr.061105","volume":"22","author":"Y Frishberg","year":"2007","unstructured":"Frishberg Y, Ito N, Rinat C, Yamazaki Y, Feinstein S, Urakawa I, Navon-Elkan P, Becker-Cohen R, Yamashita T, Araya K, Igarashi T, Fujita T, Fukumoto S (2007) Hyperostosis\u2013hyperphosphatemia syndrome: a congenital disorder of o-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Min Res 22:235\u2013242","journal-title":"J Bone Min Res"},{"key":"9736_CR30","doi-asserted-by":"crossref","first-page":"18370","DOI":"10.1074\/jbc.M602469200","volume":"281","author":"K Kato","year":"2006","unstructured":"Kato K, Jeanneau C, Tarp MA, Benet-Pages A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H (2006) Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 281:18370\u201318377","journal-title":"J Biol Chem"},{"key":"9736_CR31","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/jbmr.544","volume":"27","author":"S Ichikawa","year":"2012","unstructured":"Ichikawa S, Austin AM, Gray AK, Econs MJ (2012) A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. J Bone Miner Res 27:453\u2013460","journal-title":"J Bone Miner Res"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-013-9736-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00223-013-9736-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-013-9736-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T07:41:06Z","timestamp":1558683666000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00223-013-9736-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,23]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["9736"],"URL":"https:\/\/doi.org\/10.1007\/s00223-013-9736-4","relation":{},"ISSN":["0171-967X","1432-0827"],"issn-type":[{"value":"0171-967X","type":"print"},{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,23]]}}}