{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:41:53Z","timestamp":1791092513242,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,5,1]],"date-time":"2005-05-01T00:00:00Z","timestamp":1114905600000},"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":3001,"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":[[2005,5]]},"DOI":"10.1086\/429932","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T15:52:24Z","timestamp":1113580344000},"page":"804-814","source":"Crossref","is-referenced-by-count":177,"title":["A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS"],"prefix":"10.1016","volume":"76","author":[{"given":"Agn\u00e8s","family":"Linglart","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert C.","family":"Gensure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert C.","family":"Olney","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"}]}],"member":"78","reference":[{"key":"10.1086\/429932_bib2","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1172\/JCI19159","article-title":"Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS","volume":"112","author":"Bastepe","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1086\/429932_bib3","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1487","article-title":"Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib","volume":"37","author":"Bastepe","year":"2005","journal-title":"Nat Genet"},{"key":"10.1086\/429932_bib4","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1210\/me.2002-0054","article-title":"Receptor-mediated adenylyl cyclase activation through XL\u03b1s, the extra-large variant of the stimulatory G protein \u03b1-subunit","volume":"16","author":"Bastepe","year":"2002","journal-title":"Mol Endocrinol"},{"key":"10.1086\/429932_bib5","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1086\/320117","article-title":"Paternal uniparental isodisomy of chromosome 20q\u2014and the resulting changes in GNAS1 methylation\u2014as a plausible cause of pseudohypoparathyroidism","volume":"68","author":"Bastepe","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/429932_bib6","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":"10.1086\/429932_bib7","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1136\/jmg.31.8.607","article-title":"Parental origin of transcription from the human GNAS1 gene","volume":"31","author":"Campbell","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/429932_bib8","doi-asserted-by":"crossref","first-page":"5475","DOI":"10.1128\/MCB.23.16.5475-5488.2003","article-title":"Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus","volume":"23","author":"Coombes","year":"2003","journal-title":"Mol Cell Biol"},{"key":"10.1086\/429932_bib9","doi-asserted-by":"crossref","first-page":"R31","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\/429932_bib10","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\/429932_bib11","doi-asserted-by":"crossref","first-page":"10038","DOI":"10.1073\/pnas.95.17.10038","article-title":"The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins","volume":"95","author":"Hayward","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/429932_bib12","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\/429932_bib13","doi-asserted-by":"crossref","first-page":"11657","DOI":"10.1074\/jbc.272.17.11657","article-title":"Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity","volume":"272","author":"Ischia","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/429932_bib14","doi-asserted-by":"crossref","first-page":"8458","DOI":"10.1016\/S0021-9258(19)38910-0","article-title":"Alternative promoter and 5\u2032 exon generate a novel Gs\u03b1 mRNA","volume":"265","author":"Ishikawa","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1086\/429932_bib15","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":"10.1086\/429932_bib16","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1038\/372804a0","article-title":"XL\u03b1s is a new type of G protein","volume":"372","author":"Kehlenbach","year":"1994","journal-title":"Nature"},{"key":"10.1086\/429932_bib17","first-page":"1137","article-title":"Pseudohypoparathyroidism","volume":"Vol 2","author":"Levine","year":"2002"},{"key":"10.1086\/429932_bib18","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1006\/geno.2000.6337","article-title":"Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus","volume":"69","author":"Li","year":"2000","journal-title":"Genomics"},{"key":"10.1086\/429932_bib19","doi-asserted-by":"crossref","first-page":"4336","DOI":"10.1210\/jc.2003-030393","article-title":"The stimulatory G protein \u03b1-subunit Gs\u03b1 is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types Ia and Ib","volume":"88","author":"Liu","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/429932_bib20","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\/429932_bib21","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1093\/hmg\/ddi009","article-title":"Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type Ib","volume":"14","author":"Liu","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1086\/429932_bib22","doi-asserted-by":"crossref","first-page":"5808","DOI":"10.1128\/MCB.20.16.5808-5817.2000","article-title":"Identification of a methylation imprint mark within the mouse gnas locus","volume":"20","author":"Liu","year":"2000","journal-title":"Mol Cell Biol"},{"key":"10.1086\/429932_bib23","doi-asserted-by":"crossref","first-page":"e242","DOI":"10.1542\/peds.2004-1878","article-title":"Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia","volume":"115","author":"Mahmud","year":"2005","journal-title":"Pediatrics"},{"key":"10.1086\/429932_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\/429932_bib25","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1159\/000185501","article-title":"Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome: results of a multicenter study","volume":"48","author":"Marguet","year":"1997","journal-title":"Horm Res"},{"key":"10.1086\/429932_bib26","doi-asserted-by":"crossref","first-page":"33622","DOI":"10.1074\/jbc.M001335200","article-title":"Characterization of the extra-large G protein \u03b1-subunit XL\u03b1s. I. Tissue distribution and subcellular localization","volume":"275","author":"Pasolli","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1086\/429932_bib27","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\/429932_bib28","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/ng1397","article-title":"The imprinted signaling protein XL\u03b1s is required for postnatal adaptation to feeding","volume":"36","author":"Plagge","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/429932_bib29","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0903-11","article-title":"An ICE pattern crystallizes","volume":"35","author":"Spahn","year":"2003","journal-title":"Nat Genet"},{"key":"10.1086\/429932_bib30","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/ng1410","article-title":"Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome","volume":"36","author":"Sparago","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/429932_bib31","doi-asserted-by":"crossref","first-page":"4725","DOI":"10.1093\/nar\/19.17.4725","article-title":"Differential expression of novel Gs\u03b1 signal transduction protein cDNA species","volume":"19","author":"Swaroop","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/429932_bib32","first-page":"675","article-title":"Endocrine manifestations of stimulatory G protein \u03b1-subunit mutations and the role of genomic imprinting","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocr Rev"},{"key":"10.1086\/429932_bib33","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1038\/ng1398","article-title":"A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas","volume":"36","author":"Williamson","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/429932_bib34","doi-asserted-by":"crossref","first-page":"3342","DOI":"10.1073\/pnas.97.7.3342","article-title":"An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus","volume":"97","author":"Wroe","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/429932_bib35","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"},{"key":"10.1086\/429932_bib36","first-page":"4627","article-title":"G\u03b1s transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type Ib","volume":"86","author":"Zheng","year":"2001","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707607277?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707607277?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T21:25:27Z","timestamp":1625779527000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707607277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["S0002929707607277"],"URL":"https:\/\/doi.org\/10.1086\/429932","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2005,5]]}}}