{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T05:40:25Z","timestamp":1694929225467},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1982,11,25]],"date-time":"1982-11-25T00:00:00Z","timestamp":407030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1983,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hair roots have been analysed in a large kindred with X\u2010linked ichthyosis associated with steroid sulphatase deficiency. Enzyme activity in individual hair roots was assayed for the steroid sulphatase: neutral \u03b1\u2010glucosidase ratio, the latter serving as an indicator of the general metabolic activity of the hair root. The distribution of the enzyme ratios in the individual hair roots in the heterozygotes described a normal curve suggesting origin from a single population of cells. The results differed strikingly from the irregular distribution of enzyme activities in hair roots of Lesch\u2010Nyhan disease, where mosaicism occurs. It is suggested that the maternal and paternal genes for steroid sulphatase remain active<jats:italic>in vivo<\/jats:italic> in each cell in the hair root in apparent contradiction to the Lyon hypothesis. The observation is consistent with that previously reported for skin fibroblasts<jats:italic>in vitro<\/jats:italic>. Sulphatase activity in female controls was minimally greater than in males but the difference was not statistically significant.<\/jats:p>","DOI":"10.1007\/bf02310876","type":"journal-article","created":{"date-parts":[[2006,2,15]],"date-time":"2006-02-15T15:54:22Z","timestamp":1140018862000},"page":"173-177","source":"Crossref","is-referenced-by-count":5,"title":["Hair root analysis in X\u2010linked ichthyosis"],"prefix":"10.1002","volume":"6","author":[{"given":"J.","family":"Dancis","sequence":"first","affiliation":[{"name":"Department of Pediatrics New York University School of Medicine  550 First Avenue NY 10016 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics New York University School of Medicine  550 First Avenue NY 10016 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Hutzler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics New York University School of Medicine  550 First Avenue NY 10016 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1982,11,25]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(68)90079-9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282826"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.50.3.481"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1542\/peds.42.6.990","article-title":"The ichthyosiform dermatoses","volume":"42","author":"Easterly N. B.","year":"1968","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1974.00490320041005"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1969.tb01642.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.172.3983.572"},{"key":"e_1_2_1_9_1","first-page":"50","article-title":"Steroid\u2010sulfatase deficiency in sex\u2010linked ichthyosis","volume":"31","author":"Kubilus J.","year":"1979","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"e_1_2_1_11_1","first-page":"497","article-title":"Human neutral \u03b1\u2010glucosidase C: Genetic polymorphism including a \u2018null\u2019 allele","volume":"32","author":"Martiniuk F.","year":"1980","journal-title":"Am. J. Hum. 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