{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:14Z","timestamp":1789447394618,"version":"build-2803163510"},"reference-count":34,"publisher":"S. Karger AG","issue":"Suppl. 3","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"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":[[2003]]},"abstract":"<jats:p>Pseudohypoparathyroidism (PHP) is associated with biochemical hypoparathyroidism (i.e. hypocalcemia and hyperphosphatemia) due to parathyroid hormone (PTH) resistance rather than to PTH deficiency. Patients with PHP type 1a have a generalized form of hormone resistance plus a constellation of developmental defects termed Albright hereditary osteodystrophy (AHO). Within PHP type 1a families some individuals will show AHO but have normal hormone responsiveness, a variant phenotype termed pseudo-PHP. By contrast, patients with PHP type 1b manifest only PTH resistance and lack features of AHO. These various forms of PHP are due to defects in the &lt;i&gt;GNAS1&lt;\/i&gt; gene that lead to decreased expression or activity of the \u03b1-subunit of the stimulatory G protein (G&lt;sub&gt;s&lt;\/sub&gt;\u03b1). Tissue-specific genomic imprinting of &lt;i&gt;GNAS1&lt;\/i&gt; accounts for the variable phenotypes of patients with &lt;i&gt;GNAS1&lt;\/i&gt; defects.<\/jats:p>","DOI":"10.1159\/000074508","type":"journal-article","created":{"date-parts":[[2003,12,19]],"date-time":"2003-12-19T09:25:47Z","timestamp":1071825947000},"page":"87-95","source":"Crossref","is-referenced-by-count":19,"title":["Genetic Basis for Resistance to Parathyroid Hormone"],"prefix":"10.1159","volume":"60","author":[{"given":"Michael A.","family":"Levine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Germain-Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Jan de Beur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2004,11,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/en.132.5.2157"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020183"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.7.3091"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1999.0721110.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.17.11657"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.14.3849"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.17.10038"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M001335200"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006594200"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/me.2002-0054"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170062"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000059752.07086.A2"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1086\/374566"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.1.189"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.79.3.750"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/340692a0"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/me.11.11.1718"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.37.23976"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006032200"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1998.00572.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051048"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<261::AID-AJMG2>3.3.CO;2-I"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/369164a0"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.6.1560"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.119.5.1297"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.10.4622"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.26.15475"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.16.5808-5817.2000"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.15.8715"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200113445"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.6.2074"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.20.11798"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1086\/320117"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1210\/jc.77.6.1535"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/74508","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/74508","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:53:27Z","timestamp":1745466807000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000074508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":34,"journal-issue":{"issue":"Suppl. 3","published-online":{"date-parts":[[2003,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000074508","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003]]}}}