{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:58:50Z","timestamp":1789786730427,"version":"4.0.1"},"reference-count":20,"publisher":"Japanese Society of Internal Medicine","issue":"24","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2018,12,15]]},"DOI":"10.2169\/internalmedicine.1272-18","type":"journal-article","created":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T18:49:51Z","timestamp":1533840591000},"page":"3603-3610","source":"Crossref","is-referenced-by-count":7,"title":["Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the &lt;i&gt;CLCN5&lt;\/i&gt; gene"],"prefix":"10.2169","volume":"57","author":[{"given":"Ayumi","family":"Matsumoto","sequence":"first","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Matsui","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayasu","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Sakaguchi","sequence":"additional","affiliation":[{"name":"Department of Comprehensive Kidney Disease Research, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Mizui","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiyasu","family":"Ueda","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Doi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Shimada","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiro","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsufumi","family":"Oka","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitsugu","family":"Takabatake","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eisei","family":"Sohara","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Hamano","sequence":"additional","affiliation":[{"name":"Department of Comprehensive Kidney Disease Research, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Uchida","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitaka","family":"Isaka","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Osaka University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. van Berkel Y, Ludwig M, van Wijk JAE, B\u00f6kenkamp A. Proteinuria in Dent disease: a review of the literature. Pediatr Nephrol 32: 1851-1859, 2017.","DOI":"10.1007\/s00467-016-3499-x"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. B\u00f6ckenhauer D, B\u00f6kenkamp A, Nuutinen M, et al. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet 1: 15-23, 2012.","DOI":"10.3233\/PGE-2012-005"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent&apos;s disease. Hum Mol Genet 8: 247-257, 1999.","DOI":"10.1093\/hmg\/8.2.247"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Claverie-Mart\u00edn F, Ramos-Trujillo E, Garc\u00eda-Nieto V. Dent&apos;s disease: clinical features and molecular basis. Pediatr Nephrol 26: 693-704, 2011.","DOI":"10.1007\/s00467-010-1657-0"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Sekine T, Komoda F, Miura K, et al. Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe\/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. Nephrol Dial Transplant 29: 376-384, 2014.","DOI":"10.1093\/ndt\/gft394"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Isakova T, Wahl P, Vargas GS, et al. Fibroblast growth factor 23 is elevated before parathyroid hormone and phosphate in chronic kidney disease. Kidney Int 79: 1370-1378, 2011.","DOI":"10.1038\/ki.2011.47"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Mac-Way F, Azzouz L, Noel C, Lafage-Proust MH. Osteomalacia induced by vitamin D deficiency in hemodialysis patients: the crucial role of vitamin D correction. J Bone Miner Metab 32: 215-219, 2014.","DOI":"10.1007\/s00774-013-0480-7"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Hernandez JD, Wesseling K, Boechat MI, Gales B, Salusky IB. Osteomalacia in a hemodialysis patient receiving an active vitamin D sterol. Nat Clin Pract Nephrol 3: 227-232, 2007.","DOI":"10.1038\/ncpneph0443"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Mori T, Hosomichi K, Chiga M, et al. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel. Clin Exp Nephrol 21: 63-75, 2017.","DOI":"10.1007\/s10157-016-1252-1"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Roy A, Kucukural A, Zhang Y. I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc 5: 725-738, 2010.","DOI":"10.1038\/nprot.2010.5"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y. The I-TASSER suite: protein structure and function prediction. Nat Methods 12: 7-8, 2014.","DOI":"10.1038\/nmeth.3213"},{"key":"12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2105-9-1","volume":"9","author":"Y Zhang","year":"2008","unstructured":"12. Zhang Y. I-TASSER server for protein 3D structure prediction. BMC Bioinformatics 9: 1-8, 2008.","journal-title":"BMC Bioinformatics","ISSN":"https:\/\/id.crossref.org\/issn\/1471-2105","issn-type":"print"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Yamagata M, Ozono K, Hashimoto Y, Miyauchi Y, Kondou H, Michigami T. Intraperitoneal administration of recombinant receptor-associated protein causes phosphaturia via an alteration in subcellular distribution of the renal sodium phosphate co-transporter. J Am Soc Nephrol 16: 2338-2345, 2005.","DOI":"10.1681\/ASN.2004070599"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Tada H, Nemoto E, Kanaya S, Hamaji N, Sato H, Shimauchi H. Elevated extracellular calcium increases expression of bone morphogenetic protein-2 gene via a calcium channel and ERK pathway in human dental pulp cells. Biochem Biophys Res Commun 394: 1093-1097, 2010.","DOI":"10.1016\/j.bbrc.2010.03.135"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Kato Y, Boskey A, Spevak L, Dallas M, Hori M, Bonewald LF. Establishment of an osteoid preosteocyte-like cell MLO-A5 that spontaneously mineralizes in culture. J Bone Miner Res 16: 1622-1633, 2001.","DOI":"10.1359\/jbmr.2001.16.9.1622"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Boyce BF, Xing L. Biology of RANK, RANKL, and osteoprotegerin. Arthritis Res Ther 9(Suppl 1): S1, 2007.","DOI":"10.1186\/ar2165"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Mithal A, Wahl DA, Bonjour JP, et al. Global vitamin D status and determinants of hypovitaminosis D. Osteoporos Int 20: 1807-1820, 2009.","DOI":"10.1007\/s00198-009-0954-6"},{"key":"18","doi-asserted-by":"publisher","unstructured":"18. Nakamura K, Nashimoto M, Matsuyama S, Yamamoto M. Low serum concentrations of 25-hydroxyvitamin D in young adult Japanese women: a cross sectional study. Nutrition 17: 921-925, 2001.","DOI":"10.1016\/S0899-9007(01)00662-1"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Blanchard A, Curis E, Guyon-Roger T, et al. Observations of a large Dent disease cohort. Kidney Int 90: 430-439, 2016.","DOI":"10.1016\/j.kint.2016.04.022"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Ignoul S, Eggermont J. CBS domains: structure, function, and pathology in human proteins. Am J Physiol - Cell Physiol 289: C1369-C1378, 2005.","DOI":"10.1152\/ajpcell.00282.2005"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/57\/24\/57_1272-18\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T23:48:30Z","timestamp":1544831310000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/57\/24\/57_1272-18\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,15]]},"references-count":20,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.1272-18","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,15]]}}}