{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T02:51:24Z","timestamp":1773283884816,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T00:00:00Z","timestamp":1447804800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001700","name":"The Ministry of Education, Culture, Sports, Science and Technology of Japan","doi-asserted-by":"crossref","award":["15K09691"],"award-info":[{"award-number":["15K09691"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"crossref"}]},{"name":"a Health Labour Sciences Research Grant for Research on Measures for Intractable Diseases","award":["H26-nanchitou-ippan-036"],"award-info":[{"award-number":["H26-nanchitou-ippan-036"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Exp Nephrol"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1007\/s10157-015-1197-9","type":"journal-article","created":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T09:21:54Z","timestamp":1447838514000},"page":"699-702","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene"],"prefix":"10.1007","volume":"20","author":[{"given":"Xue Jun","family":"Fu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Eguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimi","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoya","family":"Morisada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akemi","family":"Shono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Taniguchi-Ikeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Shima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Nakanishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Igor","family":"Vorechovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,11,18]]},"reference":[{"issue":"9","key":"1197_CR1","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1681\/ASN.V991736","volume":"9","author":"CE Kashtan","year":"1998","unstructured":"Kashtan CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol. 1998;9(9):1736\u201350.","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"1197_CR2","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1681\/ASN.2012020148","volume":"24","author":"J Savige","year":"2013","unstructured":"Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364\u201375.","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"1197_CR3","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","volume":"11","author":"JP Jais","year":"2000","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11(4):649\u201357.","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"1197_CR4","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/mgg3.89","volume":"2","author":"K Nozu","year":"2014","unstructured":"Nozu K, Iijima K, Ohtsuka Y, Fu XJ, Kaito H, Nakanishi K, Vorechovsky I. Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY. Mol Genet Genom Med. 2014;2(5):451\u20133.","journal-title":"Mol Genet Genom Med"},{"issue":"11","key":"1197_CR5","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.2215\/CJN.04140414","volume":"9","author":"K Nozu","year":"2014","unstructured":"Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, et al. X-linked Alport syndrome caused by splicing mutations in COL4A5. Clin J Am Soc Nephrol. 2014;9(11):1958\u201364.","journal-title":"Clin J Am Soc Nephrol"},{"issue":"5","key":"1197_CR6","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/ki.2013.479","volume":"85","author":"Y Hashimura","year":"2014","unstructured":"Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, et al. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV alpha5 chain. Kidney Int. 2014;85(5):1208\u201313.","journal-title":"Kidney Int"},{"issue":"4","key":"1197_CR7","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1203\/01.pdr.0000265051.26718.b5","volume":"61","author":"H Kaito","year":"2007","unstructured":"Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, et al. Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman\u2019s syndrome. Pediatr Res. 2007;61(4):502\u20135.","journal-title":"Pediatr Res"},{"issue":"1","key":"1197_CR8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1038\/ki.1996.316","volume":"50","author":"I Naito","year":"1996","unstructured":"Naito I, Kawai S, Nomura S, Sado Y, Osawa G. Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network. Kidney Int. 1996;50(1):304\u201311.","journal-title":"Kidney Int"},{"issue":"8","key":"1197_CR9","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1681\/ASN.V981433","volume":"9","author":"K Nakanishi","year":"1998","unstructured":"Nakanishi K, Iijima K, Kuroda N, Inoue Y, Sado Y, Nakamura H, Yoshikawa N. Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome. J Am Soc Nephrol. 1998;9(8):1433\u201340.","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"1197_CR10","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF01464322","volume":"104","author":"Y Sado","year":"1995","unstructured":"Sado Y, Kagawa M, Kishiro Y, Sugihara K, Naito I, Seyer JM, Sugimoto M, Oohashi T, Ninomiya Y. Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen. Histochem Cell Biol. 1995;104(4):267\u201375.","journal-title":"Histochem Cell Biol"},{"issue":"4","key":"1197_CR11","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","volume":"3","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3(4):285\u201398.","journal-title":"Nat Rev Genet"},{"issue":"5","key":"1197_CR12","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1681\/ASN.2009070784","volume":"21","author":"MR Bekheirnia","year":"2010","unstructured":"Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010;21(5):876\u201383.","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"1197_CR13","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","volume":"17","author":"O Gross","year":"2002","unstructured":"Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transpl. 2002;17(7):1218\u201327.","journal-title":"Nephrol Dial Transpl"}],"container-title":["Clinical and Experimental Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10157-015-1197-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10157-015-1197-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10157-015-1197-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10157-015-1197-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T12:47:02Z","timestamp":1653569222000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10157-015-1197-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,18]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["1197"],"URL":"https:\/\/doi.org\/10.1007\/s10157-015-1197-9","relation":{},"ISSN":["1342-1751","1437-7799"],"issn-type":[{"value":"1342-1751","type":"print"},{"value":"1437-7799","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,18]]}}}