{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:11:38Z","timestamp":1745554298790,"version":"3.40.4"},"reference-count":5,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"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":[[2001]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; X-linked ichthyosis (XLI) is an inherited skin disorder caused by a deficiency of steroid sulfatase (STS). The gene and protein of STS were examined in 19 Japanese patients with XLI. &lt;i&gt;Results:&lt;\/i&gt; In Western blotting analysis, no cross-reacting peptide was detected in the patients\u2019 placenta, although a single band (63 kD) corresponding to STS in a normal subject was observed. Southern blotting was performed using &lt;i&gt;Eco&lt;\/i&gt;RI digests of cellular DNA from 13 XLI patients and full-length human STS cDNA as a probe. Normal males had bands of 20, 15, 10, 9.0, 6.1, 4.2, 2.6, and 1.5 kb. Twelve of the 19 patients had only 20- and 1.5-kb bands. Only one patient had the same band pattern as that of normal males. The STS gene was analyzed by PCR in 6 of the 19 patients. PCR amplification products were sequenced to analyze the STS gene. Two cases with one-base change in the STS gene and variation in amino acids H444R and E560P were found. Mutant STS cDNA was transfected into COS-1 cells and the STS enzyme activity was assayed. The enzyme activities were less than the minimum detection value of the detection system. &lt;i&gt;Conclusions:&lt;\/i&gt; These results suggest that XLI is mainly caused by an extensive deletion of the STS gene and that the PCR method is useful for detection of STS point mutations.<\/jats:p>","DOI":"10.1159\/000048116","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T13:07:10Z","timestamp":1050412030000},"page":"182-187","source":"Crossref","is-referenced-by-count":1,"title":["Molecular Analysis of X-Linked Ichthyosis in Japan"],"prefix":"10.1159","volume":"56","author":[{"given":"Teruo","family":"Sugawara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiichiro","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,3,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(82)90151-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-199603000-00024"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90447-8"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.33.20756"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90098-1"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/48116","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/48116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:00:09Z","timestamp":1745467209000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000048116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":5,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2001,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000048116","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2001]]}}}