{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T05:09:16Z","timestamp":1698037756088},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6583,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Using whole genital skin fibroblasts, we have characterized a novel androgen receptor mutation in a family with partial androgen resistance. The proposita was born with bilateral labioscrotal folds and a single perineal urogenital orifice. Her similarly affected maternal aunt was raised as a female with the support of gonadectomy and vaginoplasty. The mutant androgen receptor has a normal maximum binding capacity (B<jats:sub>max<\/jats:sub>), but an increased apparent equilibrium dissociation constant (K<jats:sub>d<\/jats:sub>) with 5\u03b1\u2010dihydrotestosterone (DHT) and 2 synthetic androgens, methyltrienolone (MT) and mibolerone (MB). Preformed mutant DHT\u2010receptor complexes dissociate (K) at a near\u2010normal rate, but their MT and MB counterparts dissociate twice as quickly as normal. The native free mutant receptor is not more thermolabile than normal, but its recently dissociated counterpart is. Prolonged incubation of the cells with each of the 3 androgens causes the mutant receptor to acquire a normal increment of increased androgen\u2010receptor activity. This androgen\u2010sensitive pattern of misbehavior of the present mutant receptor distinguishes it from those responsible for 3 other families with partial androgen resistance studied previously. These differences will help to identify structure\u2010function domains on the androgen receptor protein, particularly in conjunction with the use of DNA probes to analyze mutations at the X\u2010linked androgen receptor locus.<\/jats:p>","DOI":"10.1002\/ajmg.1320270224","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:19Z","timestamp":1118544739000},"page":"459-466","source":"Crossref","is-referenced-by-count":10,"title":["Partial androgen resistance due to a distinctive qualitative defect of the androgen receptor"],"prefix":"10.1002","volume":"27","author":[{"given":"Leonard","family":"Pinsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morris","family":"Kaufman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynne L.","family":"Levitsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(81)91571-0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo-117-5-2203"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0021-9258(18)89698-3","article-title":"Proof that the endogenous, heat\u2010stable glucocorticoid receptor\u2010activating factor is thioredoxin","volume":"260","author":"Grippo JF","year":"1985","journal-title":"J Biol Chem"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111052"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-59-4-679"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180319"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-4731(86)90243-8"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"13236","DOI":"10.1016\/S0021-9258(18)69296-8","article-title":"Progesterone receptor synthesis and degradation in MCF\u20107 human breast cancer cells as studied by dense amino acid incorporation. Evidence for a non\u2010hormone binding receptor precursor","volume":"261","author":"Mullick A","year":"1986","journal-title":"J Biol Chem"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111829"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1139\/o83-097"},{"key":"e_1_2_1_13_1","first-page":"965","article-title":"Human minimal androgen insensitivity with normal dihydrotestosterone\u2010binding capacity in cultured genital skin fibroblasts: Evidence for an androgen\u2010selective qualitative abnormality of the receptor","volume":"36","author":"Pinsky L","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst0120658"},{"key":"e_1_2_1_15_1","first-page":"255","article-title":"Partial androgen insensitivity as a cause of genital maldevelopment","volume":"39","author":"Rodrigues Pereira R","year":"1984","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2080383"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"4772","DOI":"10.1016\/S0021-9258(17)30080-7","article-title":"ATP\u2010dependent activation of L\u2010cell glucocorticoid receptors to the steroid\u2010binding form","volume":"254","author":"Sando JJ","year":"1979","journal-title":"J Biol Chem"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1949.tb27297.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/S0021-9258(18)89753-8","article-title":"Mechanism of androgen\u2010receptor augmentation: Analysis of receptor synthesis and degradation by the density\u2010shift technique","volume":"260","author":"Syms AJ","year":"1985","journal-title":"J Biol Chem"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270224","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270224","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T17:19:20Z","timestamp":1697908760000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,6]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,6]]}},"alternative-id":["10.1002\/ajmg.1320270224"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270224","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,6]]}}}