{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T01:26:12Z","timestamp":1759541172007},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9649,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have studied labium majus skin fibroblast strains from six unrelated, previously unreported, patients with complete androgen insensitivity (CAI). Four have markedly reduced specific 5\u03b1\u2010dihydrotestosterone\u2010binding (DHT\u2010binding) activity (receptor\u2010negative). The other two (receptor\u2010positive) have normal activities in whole\u2010cell homogenates, the 100,000g supernatant of cell sonicates prepared in 0.4 M KCl, purified whole nuclei, and the nuclear fraction that resists extraction with 0.4 M KCl. In one of the two, the DHT\u2010binding macromolecules in the cytosol and 0.4 M KCl\u2010extractable nuclear fraction have normal molecular sieving profiles and binding activities. One of the receptor\u2010positive patients has maternally related affected relatives in three successive generations. Appreciable unexplained interexperimental variation of the DHT\u2010binding activities in genital skin fibroblast strains demands that multiple assays be performed on a strain before its receptor status is classified quantitatively. In our experience to date with genital skin fibroblasts, four of 13 propositi with CAI have been receptor\u2010positive.<\/jats:p>","DOI":"10.1002\/ajmg.1320040410","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:32:53Z","timestamp":1118511173000},"page":"401-411","source":"Crossref","is-referenced-by-count":23,"title":["Complete androgen insensitivity with a normal amount of 5\u03b1\u2010dihydrotestosterone\u2010binding activity in labium majus skin fibroblasts"],"prefix":"10.1002","volume":"4","author":[{"given":"Morris","family":"Kaufman","sequence":"first","affiliation":[]},{"given":"Leonard","family":"Pinsky","sequence":"additional","affiliation":[]},{"given":"Patricia A.","family":"Baird","sequence":"additional","affiliation":[]},{"given":"Barbara C.","family":"McGillivray","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-38-6-1143"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108478"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108402"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295427"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.4.1469"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.3.891"},{"key":"e_1_2_1_8_2","first-page":"563","article-title":"GM1\u2010gangliosidosis in skin fibroblast culture","volume":"26","author":"Pinsky L","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(74)90411-X"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(77)90137-4"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1949.tb27297.x"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(69)90361-1"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj0620315"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/endo-103-4-1499"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-526302-3.50011-3"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/260635a0"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(78)90196-4"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(74)90014-2"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1210\/endo-100-2-406"},{"key":"e_1_2_1_21_2","first-page":"1274","article-title":"Male pseudohermaphroditism: Diagnosis in cell culture","volume":"116","author":"Pinsky L","year":"1977","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01550984"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0039-128X(75)90030-6"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108913"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-45-4-732"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320040410","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320040410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:50:25Z","timestamp":1699836625000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320040410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320040410"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320040410","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}