{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:34:23Z","timestamp":1792762463648,"version":"4.5.0"},"reference-count":40,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,8,1]]},"DOI":"10.1210\/jc.2013-4477","type":"journal-article","created":{"date-parts":[[2014,5,30]],"date-time":"2014-05-30T11:53:51Z","timestamp":1401450831000},"page":"E1564-E1570","source":"Crossref","is-referenced-by-count":30,"title":["Different Pattern of Epigenetic Changes of the<i>GNAS<\/i>Gene Locus in Patients With Pseudohypoparathyroidism Type Ic Confirm the Heterogeneity of Underlying Pathomechanisms in This Subgroup of Pseudohypoparathyroidism and the Demand for a New Classification of<i>GNAS<\/i>-Related Disorders"],"prefix":"10.1210","volume":"99","author":[{"given":"Bettina","family":"Brix","sequence":"first","affiliation":[{"name":"Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Werner","sequence":"additional","affiliation":[{"name":"Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Staedt","sequence":"additional","affiliation":[{"name":"Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Struve","sequence":"additional","affiliation":[{"name":"Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[{"name":"Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Thiele","sequence":"additional","affiliation":[{"name":"Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of L\u00fcbeck, 23538 L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113342059600_B1","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":"key\n\t\t\t\t2019041113342059600_B2","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/humu.22265","article-title":"Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations","volume":"34","author":"Elli","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113342059600_B3","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":"key\n\t\t\t\t2019041113342059600_B4","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1073\/pnas.85.2.617","article-title":"Genetic deficiency of the \u03b1 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":"key\n\t\t\t\t2019041113342059600_B5","doi-asserted-by":"crossref","first-page":"4851","DOI":"10.1210\/jc.2008-0883","article-title":"GNAS defects identified by stimulatory G protein \u03b1-subunit signalling studies in platelets","volume":"93","author":"Freson","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B6","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1111\/j.1365-2265.2007.02969.x","article-title":"Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus","volume":"67","author":"Linglart","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key\n\t\t\t\t2019041113342059600_B7","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1086\/429932","article-title":"A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS","volume":"76","author":"Linglart","year":"2005","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113342059600_B8","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":"key\n\t\t\t\t2019041113342059600_B9","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":"key\n\t\t\t\t2019041113342059600_B10","doi-asserted-by":"crossref","first-page":"3993","DOI":"10.1210\/jc.2009-2205","article-title":"Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis","volume":"95","author":"Chillambhi","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B11","doi-asserted-by":"crossref","first-page":"E863","DOI":"10.1210\/jc.2011-2804","article-title":"A new deletion ablating NESP55 causes loss of maternal imprint of A\/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib","volume":"97","author":"Richard","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B12","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/j.bone.2010.10.168","article-title":"Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)","volume":"48","author":"Bastepe","year":"2011","journal-title":"Bone"},{"key":"key\n\t\t\t\t2019041113342059600_B13","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1086\/320117","article-title":"Paternal uniparental isodisomy of chromosome 20q\u2013and the resulting changes in GNAS1 methylation\u2013as a plausible cause of pseudohypoparathyroidism","volume":"68","author":"Bastepe","year":"2001","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113342059600_B14","doi-asserted-by":"crossref","first-page":"E103","DOI":"10.1210\/jc.2012-2639","article-title":"Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q","volume":"98","author":"Dixit","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B15","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1530\/EJE-10-0435","article-title":"New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism","volume":"163","author":"Fern\u00e1ndez-Rebollo","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"key\n\t\t\t\t2019041113342059600_B16","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/978-1-4612-1802-9_2","article-title":"Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency","volume-title":"G Proteins, Receptors, and Disease","author":"Weinstein","year":"1998"},{"key":"key\n\t\t\t\t2019041113342059600_B17","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":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113342059600_B18","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":"key\n\t\t\t\t2019041113342059600_B19","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.beem.2006.09.001","article-title":"Mutations in the Gs \u03b1 gene causing hormone resistance","volume":"20","author":"Mantovani","year":"2006","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B20","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1210\/jcem.87.1.8133","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":"key\n\t\t\t\t2019041113342059600_B21","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/humu.21489","article-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","volume":"32","author":"Thiele","year":"2011","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113342059600_B22","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1074\/jbc.M006032200","article-title":"Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G \u03b1(s). A cause of pseudohypoparathyroidism type Ib","volume":"276","author":"Wu","year":"2001","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113342059600_B23","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 hereditary osteodystrophy","volume":"92","author":"de Nanclares","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B24","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1210\/jc.2007-0927","article-title":"A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance","volume":"93","author":"Mariot","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B25","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":"key\n\t\t\t\t2019041113342059600_B26","doi-asserted-by":"crossref","first-page":"E1507","DOI":"10.1210\/jc.2011-1411","article-title":"Madelung-like deformity in pseudohypoparathyroidism type 1b","volume":"96","author":"Sanchez","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B27","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1097\/MAJ.0b013e31815b218f","article-title":"Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid","volume":"336","author":"Unluturk","year":"2008","journal-title":"Am J Med Sci"},{"key":"key\n\t\t\t\t2019041113342059600_B28","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1016\/j.cca.2010.08.034","article-title":"A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system","volume":"411","author":"Izzi","year":"2010","journal-title":"Clin Chim Acta"},{"key":"key\n\t\t\t\t2019041113342059600_B29","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1136\/jmg.2010.081356","article-title":"Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib","volume":"48","author":"Maupetit-M\u00e9houas","year":"2011","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113342059600_B30","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1055\/s-0032-1304232","article-title":"GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?","volume":"44","author":"Mantovani","year":"2012","journal-title":"Horm Metab Res"},{"key":"key\n\t\t\t\t2019041113342059600_B31","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1002\/jbmr.369","article-title":"Gs\u03b1 activity is reduced in erythrocyte membranes of patients with pseudohypoparathyroidism due to epigenetic alterations at the GNAS locus","volume":"26","author":"Zazo","year":"2011","journal-title":"J Bone Miner Res"},{"key":"key\n\t\t\t\t2019041113342059600_B32","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1016\/j.ajhg.2012.03.004","article-title":"Exome sequencing identifies PDE4D mutations in acrodysostosis","volume":"90","author":"Lee","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113342059600_B33","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1056\/NEJMoa1012717","article-title":"Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance","volume":"364","author":"Linglart","year":"2011","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113342059600_B34","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.ajhg.2012.03.003","article-title":"Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis","volume":"90","author":"Michot","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113342059600_B35","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.mce.2011.05.032","article-title":"A novel aspect of GNAS imprinting: higher maternal expression of G\u03b1s in human lymphoblasts, peripheral blood mononuclear cells, mammary adipose tissue, and heart","volume":"341","author":"Klenke","year":"2011","journal-title":"Mol Cell Endocrinol"},{"key":"key\n\t\t\t\t2019041113342059600_B36","first-page":"595","article-title":"Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes","volume":"34","author":"Court","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113342059600_B37","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1002\/humu.22352","article-title":"Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b","volume":"34","author":"Maupetit-M\u00e9houas","year":"2013","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113342059600_B38","doi-asserted-by":"crossref","first-page":"E1060","DOI":"10.1210\/jc.2012-1081","article-title":"Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus","volume":"97","author":"Perez-Nanclares","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113342059600_B39","doi-asserted-by":"crossref","first-page":"e1000423","DOI":"10.1371\/journal.pgen.1000423","article-title":"Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)","volume":"5","author":"Meyer","year":"2009","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t2019041113342059600_B40","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng.187","article-title":"Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57","volume":"40","author":"Mackay","year":"2008","journal-title":"Nat Genet"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/99\/8\/E1564\/9047442\/jcem1564.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,11]],"date-time":"2019-08-11T00:34:45Z","timestamp":1565483685000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/99\/8\/E1564\/2537594"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,1]]},"references-count":40,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2013-4477","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,1]]}}}