{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:34:15Z","timestamp":1792762455867,"version":"4.5.0"},"reference-count":31,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1603,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1002\/humu.21489","type":"journal-article","created":{"date-parts":[[2011,2,26]],"date-time":"2011-02-26T15:14:07Z","timestamp":1298733247000},"page":"653-660","source":"Crossref","is-referenced-by-count":73,"title":["Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gs\u03b1-receptor interaction"],"prefix":"10.1155","volume":"32","author":[{"given":"Susanne","family":"Thiele","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"de Sanctis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Werner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Gr\u00f6tzinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cumhur","family":"Aydin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2011,4,12]]},"reference":[{"key":"10.1002\/humu.21489-BIB1|cit1","doi-asserted-by":"crossref","first-page":"4630","DOI":"10.1210\/jc.86.10.4630","article-title":"Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy","volume":"86","author":"Ahrens","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.21489-BIB2|cit2","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1515\/JPEM.2006.19.S2.635","article-title":"Genetics of pseudohypoparathyroidism types Ia and Ic","volume":"19","author":"Aldred","year":"2006","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.1002\/humu.21489-BIB3|cit3","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-0-387-77576-0_3","article-title":"The GNAS locus and pseudohypoparathyroidism","volume":"626","author":"Bastepe","year":"2008","journal-title":"Adv Exp Med Biol"},{"key":"10.1002\/humu.21489-BIB4|cit4","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1210\/me.2002-0054","article-title":"Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit","volume":"16","author":"Bastepe","year":"2002","journal-title":"Mol Endocrinol"},{"key":"10.1002\/humu.21489-BIB5|cit5","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000083895","article-title":"GNAS locus and pseudohypoparathyroidism","volume":"63","author":"Bastepe","year":"2005","journal-title":"Horm Res"},{"key":"10.1002\/humu.21489-BIB6|cit6","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1093\/hmg\/10.12.1231","article-title":"Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A\/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus","volume":"10","author":"Bastepe","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21489-BIB7|cit7","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1210\/jc.2006-2287","article-title":"Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's herediatary osteodystrophy","volume":"92","author":"de Nanclares","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.21489-BIB8|cit8","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1203\/01.PDR.0000059752.07086.A2","article-title":"Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism","volume":"53","author":"De Sanctis","year":"2003","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.21489-BIB9|cit9","doi-asserted-by":"crossref","first-page":"3098","DOI":"10.1073\/pnas.78.5.3098","article-title":"Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity","volume":"78","author":"Farfel","year":"1981","journal-title":"Pro Natl Acad Sci USA"},{"key":"10.1002\/humu.21489-BIB10|cit10","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1126\/science.3136547","article-title":"Site of G protein binding to rhodopsin mapped with synthetic peptides from the alpha subunit","volume":"241","author":"Hamm","year":"1998","journal-title":"Science"},{"key":"10.1002\/humu.21489-BIB11|cit11","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1196\/annals.1346.029","article-title":"Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus","volume":"1068","author":"J\u00fcppner","year":"2006","journal-title":"Ann N Y Acad Sci"},{"key":"10.1002\/humu.21489-BIB12|cit12","doi-asserted-by":"crossref","first-page":"11798","DOI":"10.1073\/pnas.95.20.11798","article-title":"The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3","volume":"95","author":"J\u00fcppner","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21489-BIB13|cit13","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1073\/pnas.85.7.2081","article-title":"Isolation and characterization of the human Gs alpha gene","volume":"85","author":"Kozasa","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21489-BIB14|cit14","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1107\/S0021889891004399","article-title":"MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures","volume":"24","author":"Kraulis","year":"1991","journal-title":"J Appl Crystallogr"},{"key":"10.1002\/humu.21489-BIB15|cit15","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1530\/eje.0.1450543","article-title":"G protein mutations in endocrine diseases","volume":"145","author":"Lania","year":"2001","journal-title":"Eur J Endocrinol"},{"key":"10.1002\/humu.21489-BIB16|cit16","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1073\/pnas.85.2.617","article-title":"Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy","volume":"85","author":"Levine","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21489-BIB17|cit17","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/0006-291X(80)90563-X","article-title":"Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism","volume":"94","author":"Levine","year":"1980","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.21489-BIB18|cit18","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1210\/jc.87.1.189","article-title":"GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance","volume":"87","author":"Linglart","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.21489-BIB19|cit19","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1210\/en.2005-1487","article-title":"Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced cAMP formation mediated by human XL{alpha}s","volume":"147","author":"Linglart","year":"2006","journal-title":"Endocrinology"},{"key":"10.1002\/humu.21489-BIB20|cit20","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1210\/jc.2009-0176","article-title":"Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients","volume":"95","author":"Mantovani","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.21489-BIB21|cit21","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.beem.2006.09.001","article-title":"Mutations in the Gs alpha gene causing hormone resistance","volume":"20","author":"Mantovani","year":"2006","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1002\/humu.21489-BIB22|cit22","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1126\/science.2899356","article-title":"Carboxyl terminal domain of Gs alpha specifies coupling of receptors to stimulation of adenylyl cyclase","volume":"241","author":"Masters","year":"1988","journal-title":"Science"},{"key":"10.1002\/humu.21489-BIB23|cit23","doi-asserted-by":"crossref","first-page":"591","DOI":"10.3109\/10799899309073681","article-title":"Functional domains of the Gs alpha subunit: role of the C-terminus in the receptor-dependent and receptor-independent activation","volume":"13","author":"Pantaloni","year":"1993","journal-title":"J Recept Res"},{"key":"10.1002\/humu.21489-BIB24|cit24","doi-asserted-by":"crossref","first-page":"21519","DOI":"10.1016\/S0021-9258(17)31835-5","article-title":"Synthetic peptides as probes for G protein function. Carboxyl-terminal G alpha s peptides mimic Gs and evoke high affinity agonist binding to beta-adrenergic receptors","volume":"269","author":"Rasenick","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21489-BIB25|cit25","doi-asserted-by":"crossref","first-page":"25387","DOI":"10.1016\/S0021-9258(18)47261-4","article-title":"A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase","volume":"269","author":"Schwindinger","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21489-BIB26|cit26","first-page":"185","article-title":"Antibodies against synthetic peptides as probes of G protein structure and function","volume":"45","author":"Spiegel","year":"1990","journal-title":"Soc Gen Physiol Ser"},{"key":"10.1002\/humu.21489-BIB27|cit27","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1038\/330758a0","article-title":"Identification of receptor contact site involved in receptor-G protein coupling","volume":"330","author":"Sullivan","year":"1987","journal-title":"Nature"},{"key":"10.1002\/humu.21489-BIB28|cit28","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1126\/science.278.5345.1943","article-title":"Crystal structure of the adenylyl cyclase activator Gs\u03b1","volume":"278","author":"Sunahara","year":"1997","journal-title":"Science"},{"key":"10.1002\/humu.21489-BIB29|cit29","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/978-1-4612-1802-9_2","volume-title":"G proteins, receptors, and desease","author":"Weinstein","year":"1998"},{"key":"10.1002\/humu.21489-BIB30|cit30","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1749-6632.2002.tb04335.x","article-title":"Gs(alpha) mutations and imprinting defects in human disease","volume":"968","author":"Weinstein","year":"2002","journal-title":"Ann N Y Acad Sci"},{"key":"10.1002\/humu.21489-BIB31|cit31","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.abb.2006.06.023","article-title":"Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the G\u03b1s protein in human coronary artery smooth muscle cells","volume":"454","author":"Zhang","year":"2006","journal-title":"Arch Biochem Biophys"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21489","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21489\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:25Z","timestamp":1672332745000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,12]]},"references-count":31,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21489","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,4,12]]}}}