{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T14:33:56Z","timestamp":1722263636354},"reference-count":20,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2000,12]]},"DOI":"10.1006\/mgme.2000.3090","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T19:46:30Z","timestamp":1032378390000},"page":"646-650","source":"Crossref","is-referenced-by-count":10,"title":["Mutations of the ACTH Receptor Gene in a New Family with Isolated Glucocorticoid Deficiency"],"prefix":"10.1006","volume":"71","author":[{"given":"C.","family":"Tsigos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Tsiotra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.R.","family":"Garibaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Stavridis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.P.","family":"Chrousos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.A.","family":"Raptis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1006\/mgme.2000.3090_RF1","series-title":"G Proteins, Receptors and Disease","first-page":"261","article-title":"ACTH resistance syndromes","author":"Tsigos","year":"1998"},{"key":"10.1006\/mgme.2000.3090_RF2","first-page":"154","article-title":"Isolated glucocorticoid deficiency and ACTH receptor mutations","volume":"97","author":"Tsigos","year":"1999","journal-title":"Arch Int Med"},{"key":"10.1006\/mgme.2000.3090_RF3","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1001\/archpedi.1959.02070010156002","article-title":"Familial Addison's disease","volume":"97","author":"Sheppard","year":"1959","journal-title":"J Dis Child"},{"key":"10.1006\/mgme.2000.3090_RF4","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1203\/00006450-196811000-00008","article-title":"The syndrome of congenital unresponsiveness to ACTH","volume":"2","author":"Migeon","year":"1968","journal-title":"Pediatr Res"},{"key":"10.1006\/mgme.2000.3090_RF5","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/S0022-3476(72)80093-3","article-title":"Hereditary adrenocortical unresponsiveness to adrenocorticotropin hormone","volume":"81","author":"Kelch","year":"1972","journal-title":"J Pediatr"},{"key":"10.1006\/mgme.2000.3090_RF6","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/adc.50.4.291","article-title":"Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis","volume":"50","author":"Thistletwaite","year":"1975","journal-title":"Arch Dis Child"},{"key":"10.1006\/mgme.2000.3090_RF7","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1056\/NEJM197710272971707","article-title":"Absent aldosterone response to ACTH in familial glucocorticoid deficiency","volume":"297","author":"Spark","year":"1977","journal-title":"N Engl J Med"},{"key":"10.1006\/mgme.2000.3090_RF8","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1126\/science.1325670","article-title":"The cloning of a family of genes that encode the melanocortin receptors","volume":"257","author":"Mountjoy","year":"1992","journal-title":"Science"},{"key":"10.1006\/mgme.2000.3090_RF9","doi-asserted-by":"crossref","first-page":"2458","DOI":"10.1172\/JCI116853","article-title":"Hereditary isoalated glucocorticoid deficiency associated with abnormalities of the adrenocorticotropin receptor gene","volume":"92","author":"Tsigos","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1006\/mgme.2000.3090_RF10","first-page":"875","article-title":"A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome","volume":"80","author":"Tsigos","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1006\/mgme.2000.3090_RF11","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/0140-6736(93)90208-X","article-title":"Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor","volume":"341","author":"Clark","year":"1993","journal-title":"Lancet"},{"key":"10.1006\/mgme.2000.3090_RF12","first-page":"65","article-title":"Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families","volume":"80","author":"Weber","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1006\/mgme.2000.3090_RF13","first-page":"1442","article-title":"Demonstration by tranfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency","volume":"81","author":"Naville","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1006\/mgme.2000.3090_RF14","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1006\/mgme.1998.2724","article-title":"Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: Identification of a novel mutation of the ACTH receptor gene","volume":"64","author":"Wu","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1006\/mgme.2000.3090_RF15","unstructured":"Elias, L, LK, Klann, R, Prarasam, G, Pullinger, G, Canas, T, A, Clark, A, JL, Severe ACTH insensitivity results from a novel compound heterozygote mutation of the ACTH receptor. 79th Annual Meeting of the Endocrine Society, Minneapolis (abstract), P2-506, 1997."},{"key":"10.1006\/mgme.2000.3090_RF16","unstructured":"Penhoat, A, Naville, D, El Mourabit, H, Durand, P, Begeot, M. Novel mutations of the ACTH receptor gene are responsible of the syndrome isolated familial glucocorticoid deficiency (FGD) in three independent families. 81st Annual Meeting of the Endocrine Society, San Diego (abstract), P2-288, 1999."},{"key":"10.1006\/mgme.2000.3090_RF17","unstructured":"Ishii, T, Ogata, T, Sasaki, G, Muroya, K, Sato, S, Matsuo, N. A novel mutation of the ACTH receptor gene in an adult female patient with adrenal unresponsiveness to ACTH. 81st Annual Meeting of the Endocrine Society, San Diego (abstract), P2-153, 1999."},{"key":"10.1006\/mgme.2000.3090_RF18","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1073\/pnas.87.2.658","article-title":"A nonsense mutation causing decreased levels of insulin receptor mRNA: Detection by a simplified technique for direct sequencing of genomic DNA amplified by polymerase chain reaction","volume":"87","author":"Kadowaki","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2000.3090_RF19","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ng1092-103","article-title":"Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus","volume":"2","author":"Pan","year":"1992","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2000.3090_RF20","doi-asserted-by":"crossref","unstructured":"Richardson, J, S, Richardson, D, C. Principles and patterns of protein conformation. In Prediction of Protein Structure and the Principles of Protein Conformation (Fasman, G, Ed.). New York, Plenum, pp 1\u201398, 1989.","DOI":"10.1007\/978-1-4613-1571-1_1"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719200930907?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719200930907?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T09:50:12Z","timestamp":1557309012000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719200930907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,12]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2000,12]]}},"alternative-id":["S1096719200930907"],"URL":"https:\/\/doi.org\/10.1006\/mgme.2000.3090","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2000,12]]}}}