{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T07:53:50Z","timestamp":1779350030499,"version":"3.51.4"},"reference-count":34,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2003,4,1]],"date-time":"2003-04-01T00:00:00Z","timestamp":1049155200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3762,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2003,4]]},"DOI":"10.1086\/374566","type":"journal-article","created":{"date-parts":[[2003,4,23]],"date-time":"2003-04-23T12:54:27Z","timestamp":1051102467000},"page":"961-974","source":"Crossref","is-referenced-by-count":33,"title":["Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe the Effects of Splicing Mutations on Translated and Untranslated Messenger RNA"],"prefix":"10.1016","volume":"72","author":[{"given":"Sarah J.","family":"Rickard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise C.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/374566_bib4","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1046\/j.1365-2265.1997.1100922.x-i1","article-title":"GNAS1 mutational analysis in pseudohypoparathyroidism","volume":"49","author":"Ahmed","year":"1998","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1086\/374566_bib5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L","article-title":"Activating and inactivating mutations in the human GNAS1 gene","volume":"16","author":"Aldred","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1086\/374566_bib6","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0092-8674(90)90015-7","article-title":"High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines","volume":"62","author":"Antequera","year":"1990","journal-title":"Cell"},{"key":"10.1086\/374566_bib7","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1210\/jcem-53-3-636","article-title":"Fibroblast defect in pseudohypoparathyroidism, type I: reduced activity of receptor-cyclase coupling protein","volume":"53","author":"Bourne","year":"1981","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/374566_bib8","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/358541a0","article-title":"G proteins: the target sets the tempo","volume":"358","author":"Bourne","year":"1992","journal-title":"Nature"},{"key":"10.1086\/374566_bib9","doi-asserted-by":"crossref","first-page":"9879","DOI":"10.1016\/S0021-9258(18)98427-9","article-title":"Neural expression of a novel alternatively spliced and polyadenylated Gs \u03b1 transcript","volume":"268","author":"Crawford","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1086\/374566_bib10","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.30.2.101","article-title":"Imprinting in Albright\u2019s hereditary osteodystrophy","volume":"30","author":"Davies","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/374566_bib11","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1210\/jcem-55-1-113","article-title":"Deficient activity of receptor-cyclase coupling protein in transformed lymphoblasts of patients with pseudohypoparathyroidism, type I","volume":"55","author":"Farfel","year":"1982","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/374566_bib12","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1210\/jcem-51-5-1202","article-title":"Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism","volume":"51","author":"Farfel","year":"1980","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/374566_bib13","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0006-291X(02)00833-1","article-title":"Paternal imprinting of G\u03b1s in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a","volume":"296","author":"Germain-Lee","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/374566_bib14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.2001.6502","article-title":"Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA","volume":"73","author":"Hannula","year":"2001","journal-title":"Genomics"},{"key":"10.1086\/374566_bib15","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1172\/JCI11887","article-title":"Imprinting of the Gs\u03b1 gene GNAS1 in the pathogenesis of acromegaly","volume":"107","author":"Hayward","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1086\/374566_bib16","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/hmg\/9.5.835","article-title":"An imprinted antisense transcript at the human GNAS1 locus","volume":"9","author":"Hayward","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/374566_bib17","doi-asserted-by":"crossref","first-page":"15475","DOI":"10.1073\/pnas.95.26.15475","article-title":"Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins","volume":"95","author":"Hayward","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/374566_bib18","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1073\/pnas.85.7.2081","article-title":"Isolation and characterization of the human Gs \u03b1 gene","volume":"85","author":"Kozasa","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/374566_bib19","series-title":"RNA splicing","author":"Krainer","year":"1988"},{"key":"10.1086\/374566_bib20","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1136\/jmg.33.12.1011","article-title":"Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis","volume":"33","author":"Kubota","year":"1996","journal-title":"J Med Genet"},{"key":"10.1086\/374566_bib21","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/0002-9343(83)91008-2","article-title":"Resistance to multiple hormones in patients with pseudohypoparathyroidism: association with deficient activity of guanine nucleotide regulatory protein","volume":"74","author":"Levine","year":"1983","journal-title":"Am J Med"},{"key":"10.1086\/374566_bib22","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":"10.1086\/374566_bib23","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1172\/JCI10431","article-title":"A GNAS1 imprinting defect in pseudohypoparathyroidism type IB","volume":"106","author":"Liu","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1086\/374566_bib24","doi-asserted-by":"crossref","first-page":"4736","DOI":"10.1210\/jc.2002-020183","article-title":"The Gs\u03b1 gene: predominant maternal origin of transcription in human thyroid gland and gonads","volume":"87","author":"Mantovani","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/374566_bib25","doi-asserted-by":"crossref","first-page":"R196","DOI":"10.1016\/S0960-9822(02)00747-9","article-title":"Nonsense-mediated mRNA decay","volume":"12","author":"Maquat","year":"2002","journal-title":"Curr Biol"},{"key":"10.1086\/374566_bib26","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0022-2836(87)90647-4","article-title":"Signals for the selection of a splice site in pre-mRNA: computer analysis of splice junction sequences and like sequences","volume":"195","author":"Ohshima","year":"1987","journal-title":"J Mol Biol"},{"key":"10.1086\/374566_bib27","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1006\/geno.1994.1297","article-title":"Characterization of a de novo 43-bp deletion of the Gs \u03b1 gene (GNAS1) in Albright hereditary osteodystrophy","volume":"21","author":"Oude Luttikhuis","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/374566_bib28","series-title":"GTP-binding proteins 1: heterotrimeric G proteins","author":"Pennington","year":"1994"},{"key":"10.1086\/374566_bib29","doi-asserted-by":"crossref","first-page":"3830","DOI":"10.1073\/pnas.96.7.3830","article-title":"A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2","volume":"96","author":"Peters","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/374566_bib30","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1136\/jmg.31.1.84","article-title":"Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting","volume":"31","author":"Schuster","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/374566_bib31","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","article-title":"RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression","volume":"15","author":"Shapiro","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/374566_bib32","doi-asserted-by":"crossref","first-page":"4977","DOI":"10.1074\/jbc.274.8.4977","article-title":"Mutagenesis of the conserved residue Glu259 of Gs\u03b1 demonstrates the importance of interactions between switches 2 and 3 for activation","volume":"274","author":"Warner","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/374566_bib33","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/0888-7543(92)90056-X","article-title":"A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy","volume":"13","author":"Weinstein","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/374566_bib34","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1136\/jmg.31.11.835","article-title":"Parental origin of Gs \u03b1 gene mutations in Albright\u2019s hereditary osteodystrophy","volume":"31","author":"Wilson","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/374566_bib35","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.31.10.779","article-title":"Albright\u2019s hereditary osteodystrophy","volume":"31","author":"Wilson","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/374566_bib36","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/4.10.2001","article-title":"A deletion hot-spot in exon 7 of the Gs \u03b1 gene (GNAS1) in patients with Albright hereditary osteodystrophy","volume":"4","author":"Yu","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/374566_bib37","doi-asserted-by":"crossref","first-page":"8715","DOI":"10.1073\/pnas.95.15.8715","article-title":"Variable and tissue-specific hormone resistance in heterotrimeric Gs protein \u03b1-subunit (Gs\u03b1) knockout mice is due to tissue-specific imprinting of the Gs\u03b1 gene","volume":"95","author":"Yu","year":"1998","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970760617X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970760617X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,6]],"date-time":"2021-06-06T13:01:52Z","timestamp":1622984512000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970760617X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,4]]}},"alternative-id":["S000292970760617X"],"URL":"https:\/\/doi.org\/10.1086\/374566","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1013305.188856","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,4]]}}}