{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:27:11Z","timestamp":1770218831761,"version":"3.49.0"},"reference-count":24,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2006,10,6]],"date-time":"2006-10-06T00:00:00Z","timestamp":1160092800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,10,6]],"date-time":"2006-10-06T00:00:00Z","timestamp":1160092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2007]]},"abstract":"<b>Background\/Aims:<\/b> Although insulin-like factor 3 (INSL3) and its receptor leucine-rich repeat-containing G protein-coupled receptor 8\/G protein-coupled receptor affecting testis descent (LGR8\/GREAT) are essential for the gubernacular development, mutations of <i>INSL3<\/i> and <i>LGR8<\/i>\/<i>GREAT<\/i> are infrequent in patients with cryptorchidism (CO), and there is no report documenting a positive association of CO with a polymorphism in <i>INSL3<\/i> or <i>LGR8\/GREAT<\/i>. Here, we further examined the relevance of <i>INSL3<\/i> and <i>LGR8<\/i>\/<i>GREAT<\/i> mutations and polymorphisms to the development of CO. <b>Methods:<\/b> Sixty-two Japanese CO patients and 60 fertile males were studied. <i>INSL3 <\/i>was analyzed by direct sequencing and restriction enzyme digestion, and <i>LGR8<\/i>\/<i>GREAT <\/i>was examined by denaturing high-performance liquid chromatography followed by direct sequencing for exons with abnormal chromatogram patterns. <b>Results:<\/b> No definitive mutation was identified in both genes. Six polymorphisms were detected in <i>INSL3<\/i> or <i>LGR8<\/i>\/<i>GREAT<\/i> and Thr\/Thr genotype of Ala60Thr polymorphism in <i>INSL3 <\/i>was strongly associated with CO (p = 0.0024, odds ratio = 5.3, 95% confidence interval = 1.7\u201317). <i>Conclusion:<\/i> The results, in conjunction with the previous data, suggest that mutations of <i>INSL3<\/i> and <i>LGR8<\/i>\/<i>GREAT<\/i> remain rare, and that the Thr\/Thr genotype of Ala60Thr polymorphism in <i>INSL3<\/i> may constitute a susceptibility factor for the development of CO.<\/jats:p>","DOI":"10.1159\/000096089","type":"journal-article","created":{"date-parts":[[2006,10,10]],"date-time":"2006-10-10T15:18:07Z","timestamp":1160493487000},"page":"73-76","source":"Crossref","is-referenced-by-count":17,"title":["Mutation and Polymorphism Analyses of <i>INSL3<\/i> and <i>LGR8<\/i>\/<i>GREAT<\/i> in 62 Japanese Patients with Cryptorchidism"],"prefix":"10.1159","volume":"67","author":[{"given":"Kazuki","family":"Yamazawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuka","family":"Wada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isoji","family":"Sasagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuya","family":"Aoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiko","family":"Ueoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,10,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.18.2.259"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2605.2004.00481.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F10364"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.13.5.681"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.11.4013"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F11.19.2309"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2003-030359"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007%2Fs100380300012"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS0015-0282%2802%2903220-X"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2FS0015-0282%2801%2902016-7"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093%2Fmolehr%2F6.11.973"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F9.5.829"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.10.3660"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1998.5411"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1203%2F00006450-200004000-00020"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093%2Fmolehr%2F6.4.298"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1530%2Feje.0.1440129"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-5347%2805%2965029-X"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.10.12.1527"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2898%2908413-X"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093%2Fmolehr%2F7.5.409"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093%2Fmolehr%2F6.3.207"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016%2FS1472-6483%2810%2961883-4"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-5347%2805%2964412-6"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/96089","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/96089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:48:52Z","timestamp":1745462932000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000096089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,6]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2007,2,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000096089","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,6]]}}}