{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T10:28:19Z","timestamp":1770978499962,"version":"3.50.1"},"reference-count":14,"publisher":"S. Karger AG","issue":"Suppl. 3","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"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":[[2000]]},"abstract":"<jats:p>G proteins couple receptors for many hormones to effectors that regulate second messenger metabolism. Several endocrine disorders have been shown to be caused by either loss- or gain-of-function mutations in G proteins or G protein-coupled receptors. In pseudohypoparathyroidism type Ia (PHP Ia), there are generalized hormone resistance (parathyroid hormone [PTH], thyroid-stimulating hormone, gonadotropins) and associated abnormal physical features, Albright hereditary osteodystrophy. Subjects with PHP Ib are normal in appearance and show renal resistance to PTH. In McCune-Albright syndrome (MAS), subjects show autonomous endocrine hyperfunction associated with fibrous dysplasia of bone and skin hyperpigmentation. Germline loss-of-function mutations have been identified in the G&lt;sub&gt;s&lt;\/sub&gt;-\u03b1 gene in PHP Ia, and recent evidence suggests that the G&lt;sub&gt;s&lt;\/sub&gt;-\u03b1 gene is paternally imprinted in a tissue-specific manner. Abnormal imprinting of the G&lt;sub&gt;s&lt;\/sub&gt;-\u03b1 gene may be the cause of PHP Ib. MAS, in contrast, is caused by gain-of-function missense mutations of the G&lt;sub&gt;s&lt;\/sub&gt;-\u03b1 gene.<\/jats:p>","DOI":"10.1159\/000023526","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:26:45Z","timestamp":1050427605000},"page":"17-22","source":"Crossref","is-referenced-by-count":24,"title":["G Protein Defects in Signal Transduction"],"prefix":"10.1159","volume":"53","author":[{"given":"Allen M.","family":"Spiegel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2004,11,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80117-8"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2299(199601)37:1<1::AID-DDR1>3.0.CO;2-S"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199507273330407"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.6.1560"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199607000-00001"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1297"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<261::AID-AJMG2>3.3.CO;2-I"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/me.11.11.1718"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/369164a0"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.33.19653"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.11.5656"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.37.23976"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.15.8715"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.20.11798"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/23526","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/23526","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:51:45Z","timestamp":1745470305000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000023526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000]]},"references-count":14,"journal-issue":{"issue":"Suppl. 3","published-online":{"date-parts":[[2000,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000023526","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000]]}}}