{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:15Z","timestamp":1789447395715,"version":"build-2803163510"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"NIH\/NIDDK","award":["RO1DK073911"],"award-info":[{"award-number":["RO1DK073911"]}]},{"name":"University of Luebeck","award":["E48-2013"],"award-info":[{"award-number":["E48-2013"]}]}],"content-domain":{"domain":["thebonejournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1016\/j.bone.2014.10.006","type":"journal-article","created":{"date-parts":[[2014,10,18]],"date-time":"2014-10-18T09:30:21Z","timestamp":1413624621000},"page":"53-57","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"special_numbering":"C","title":["Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS"],"prefix":"10.1016","volume":"71","author":[{"given":"Serap","family":"Turan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olta","family":"Tafaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Brix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"Atay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saygin","family":"Abali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belma","family":"Haliloglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Bereket","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2014.10.006_bb0005","first-page":"922","article-title":"Pseudohypoparathyroidism \u2014 an example of \u2018Seabright\u2013Bantam syndrome\u2019","volume":"30","author":"Albright","year":"1942","journal-title":"Endocrinology"},{"key":"10.1016\/j.bone.2014.10.006_bb0010","series-title":"Principles of bone biology","first-page":"1137","article-title":"Pseudohypoparathyroidism","author":"Levine","year":"2002"},{"key":"10.1016\/j.bone.2014.10.006_bb0015","first-page":"675","article-title":"Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocr Rev"},{"key":"10.1016\/j.bone.2014.10.006_bb0020","series-title":"Endocrinology","article-title":"Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations","author":"Bastepe","year":"2010"},{"key":"10.1016\/j.bone.2014.10.006_bb0025","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1210\/jc.2006-1497","article-title":"Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity","volume":"92","author":"Long","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2014.10.006_bb0030","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1365-2265.2007.03025.x","article-title":"Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha","volume":"68","author":"Mouallem","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.bone.2014.10.006_bb0035","doi-asserted-by":"crossref","first-page":"E1549","DOI":"10.1210\/jc.2013-1667","article-title":"Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XL\u03b1s in fetal development","volume":"98","author":"Richard","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2014.10.006_bb0040","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":"10.1016\/j.bone.2014.10.006_bb0045","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 U S A"},{"key":"10.1016\/j.bone.2014.10.006_bb0050","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 U S A"},{"key":"10.1016\/j.bone.2014.10.006_bb0055","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 U S A"},{"issue":"6","key":"10.1016\/j.bone.2014.10.006_bb0060","doi-asserted-by":"crossref","first-page":"398","DOI":"10.2174\/138920207783406488","article-title":"The GNAS locus: quintessential complex gene encoding Gsalpha, XLalphas, and other imprinted transcripts","volume":"8","author":"Bastepe","year":"2007","journal-title":"Curr Genomics"},{"key":"10.1016\/j.bone.2014.10.006_bb0065","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.cmet.2009.05.004","article-title":"Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation","volume":"9","author":"Chen","year":"2009","journal-title":"Cell Metab"},{"key":"10.1016\/j.bone.2014.10.006_bb0070","doi-asserted-by":"crossref","first-page":"R31","DOI":"10.1172\/JCI11887","article-title":"Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly","volume":"107","author":"Hayward","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1016\/j.bone.2014.10.006_bb0075","doi-asserted-by":"crossref","first-page":"3007","DOI":"10.1210\/jc.2004-0194","article-title":"Parental origin of Gsalpha mutations in the McCune\u2013Albright syndrome and in isolated endocrine tumors","volume":"89","author":"Mantovani","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2014.10.006_bb0080","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.bone.2010.09.032","article-title":"Potent constitutive cyclic AMP-generating activity of XL\u03b1s implicates this imprinted GNAS product in the pathogenesis of McCune\u2013Albright syndrome and fibrous dysplasia of bone","volume":"48","author":"Mariot","year":"2011","journal-title":"Bone"},{"key":"10.1016\/j.bone.2014.10.006_bb0085","doi-asserted-by":"crossref","first-page":"4697","DOI":"10.1210\/en.2005-0681","article-title":"A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene","volume":"146","author":"Germain-Lee","year":"2005","journal-title":"Endocrinology"},{"key":"10.1016\/j.bone.2014.10.006_bb0090","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1002\/jbmr.2070","article-title":"Postnatal establishment of allelic G\u03b1s silencing as a plausible explanation for delayed onset of parathyroid hormone-resistance due to heterozygous G\u03b1s disruption","volume":"29","author":"Turan","year":"2013","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.bone.2014.10.006_bb0095","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1530\/EJE-07-0631","volume":"157","author":"Ho","year":"2007","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.bone.2014.10.006_bb0100","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1007\/BF03348916","article-title":"Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone","volume":"16","author":"Manfredi","year":"1993","journal-title":"J Endocrinol Invest"},{"key":"10.1016\/j.bone.2014.10.006_bb0105","doi-asserted-by":"crossref","first-page":"4059","DOI":"10.1210\/jc.2003-030028","article-title":"Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance","volume":"88","author":"Germain-Lee","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2014.10.006_bb0110","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1111\/j.1365-2230.2011.04292.x","article-title":"Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism","volume":"37","author":"Lau","year":"2012","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.bone.2014.10.006_bb0115","doi-asserted-by":"crossref","first-page":"3028","DOI":"10.1210\/jc.2009-1451","article-title":"Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans","volume":"95","author":"Lebrun","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bone.2014.10.006_bb0120","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":"10.1016\/j.bone.2014.10.006_bb0125","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/ajmg.10751","article-title":"Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy","volume":"113","author":"Aldred","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.bone.2014.10.006_bb0130","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/j.1440-0960.2010.00722.x","article-title":"Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism","volume":"52","author":"Ward","year":"2011","journal-title":"Australas J Dermatol"},{"key":"10.1016\/j.bone.2014.10.006_bb0135","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1365-2265.2011.04026.x","article-title":"Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism","volume":"75","author":"Jin","year":"2011","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.bone.2014.10.006_bb0140","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":"10.1016\/j.bone.2014.10.006_bb0145","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)"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328214003718?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328214003718?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T02:26:58Z","timestamp":1717468018000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328214003718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":29,"alternative-id":["S8756328214003718"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2014.10.006","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2014.10.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}