{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:49:29Z","timestamp":1791139769846,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T00:00:00Z","timestamp":1396483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour and Welfare of Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"To elucidate the genotypic and phenotypic characteristics of autosomal dominant polycystic kidney disease (ADPKD<\/jats:styled-content>) in Japanese populations, we performed a comprehensive search for mutations in PKD1<\/jats:styled-content><\/jats:italic> and PKD2<\/jats:styled-content><\/jats:italic> in 180 Japanese ADPKD<\/jats:styled-content> patients from 161 unrelated families. We identified 112 (89 PKD1<\/jats:styled-content><\/jats:italic> and 23 PKD2<\/jats:styled-content><\/jats:italic>) mutations within 135 families. Patients with PKD2<\/jats:styled-content><\/jats:italic> mutations account for 23.6% of all Japanese ADPKD<\/jats:styled-content> families in this study. Seventy\u2010five out of the 112 mutations have not been reported previously. The estimated glomerular filtration rate (eGFR<\/jats:styled-content>) decline was significantly faster in patients with PKD1<\/jats:styled-content><\/jats:italic> mutations than in those with PKD2<\/jats:styled-content><\/jats:italic> mutations (\u22123.25 and \u22122.08 ml\u2009min\u22121<\/jats:sup>\u2009year\u22121<\/jats:sup> for PKD1<\/jats:styled-content><\/jats:italic> and PKD2<\/jats:styled-content><\/jats:italic>, respectively, p\u2009<\u20090.01). These results indicate that mutations within PKD1<\/jats:styled-content><\/jats:italic> and PKD2<\/jats:styled-content><\/jats:italic> can be linked to most of the cases of Japanese ADPKD<\/jats:styled-content>, and the renal function decline was faster in patients with PKD1<\/jats:styled-content><\/jats:italic> mutations than in those with PKD2<\/jats:styled-content><\/jats:italic> mutations also in the Japanese ADPKD<\/jats:styled-content>. We also found that PKD2<\/jats:styled-content><\/jats:italic> mutations were more frequent in Japanese ADPKD<\/jats:styled-content> than that in European or American ADPKD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12372","type":"journal-article","created":{"date-parts":[[2014,3,10]],"date-time":"2014-03-10T10:31:39Z","timestamp":1394447499000},"page":"266-272","source":"Crossref","is-referenced-by-count":34,"title":["A comprehensive search for mutations in the PKD1<\/scp><\/i> and PKD2<\/scp><\/i> in Japanese subjects with autosomal dominant polycystic kidney disease"],"prefix":"10.1111","volume":"87","author":[{"given":"M.","family":"Kurashige","sequence":"first","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"},{"name":"Laboratory for Endocrinology, Metabolism and Kidney Diseases RIKEN Center for Integrative Medical Sciences Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hanaoka","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Imamura","sequence":"additional","affiliation":[{"name":"Laboratory for Endocrinology, Metabolism and Kidney Diseases RIKEN Center for Integrative Medical Sciences Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Udagawa","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"},{"name":"Department of Medicine Kanagawa Prefectural Shiomidai Hospital Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"},{"name":"Department of Medicine Kanagawa Prefectural Shiomidai Hospital Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Hosoya","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Yokoo","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, School of Medicine The Jikei University Minato Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Maeda","sequence":"additional","affiliation":[{"name":"Laboratory for Endocrinology, Metabolism and Kidney Diseases RIKEN Center for Integrative Medical Sciences Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90137-6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5266.1339"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V8101560"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)03495-3"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012070650"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170047"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2011.05.015"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2008.686"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22103"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006121387"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs551"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.227"}],"container-title":["Clinical 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