{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:01:01Z","timestamp":1774645261704,"version":"3.50.1"},"reference-count":24,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["GR-2009-1608394"],"award-info":[{"award-number":["GR-2009-1608394"]}]}],"content-domain":{"domain":["thebonejournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.bone.2013.06.015","type":"journal-article","created":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T11:48:38Z","timestamp":1371815318000},"page":"276-280","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: First Italian series"],"prefix":"10.1016","volume":"56","author":[{"given":"F.M.","family":"Elli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Barbieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Bordogna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Bufo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Ferrante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Giardino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Beck-Peccoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Spada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mantovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2013.06.015_bb0005","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2106\/00004623-199403000-00013","article-title":"Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification two new case reports and follow-up of three previously reported cases","volume":"74A","author":"Kaplan","year":"1994","journal-title":"J Bone Joint Surg"},{"key":"10.1016\/j.bone.2013.06.015_bb0010","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1056\/NEJMoa011262","article-title":"Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia","volume":"346","author":"Shore","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1016\/j.bone.2013.06.015_bb0015","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1097\/01.blo.0000153279.90512.38","article-title":"Reduction in Gsalpha induces osteogenic differentiation in human mesenchymal stem cells","volume":"434","author":"Lietman","year":"2005","journal-title":"Clin Orthop Relat Res"},{"issue":"11","key":"10.1016\/j.bone.2013.06.015_bb0020","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1002\/jbmr.481","article-title":"Heterozygous inactivation of Gnas in adipose-derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification","volume":"26","author":"Pignolo","year":"2011","journal-title":"J Bone Miner Res"},{"issue":"10","key":"10.1016\/j.bone.2013.06.015_bb0025","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1055\/s-0032-1321845","article-title":"Different roles of GNAS and cAMP signaling during early and late stages of osteogenic differentiation","volume":"44","author":"Zhang","year":"2012","journal-title":"Horm Metab Res"},{"key":"10.1016\/j.bone.2013.06.015_bb0030","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"},{"issue":"11","key":"10.1016\/j.bone.2013.06.015_bb0035","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1359\/jbmr.2000.15.11.2074","article-title":"Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification","volume":"15","author":"Eddy","year":"2000","journal-title":"J Bone Miner Res"},{"issue":"2","key":"10.1016\/j.bone.2013.06.015_bb0040","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/S1010-5182(98)80048-6","article-title":"Congenital plate-like osteoma cutis of the forehead: an atypical presentation form","volume":"26","author":"Tresserra","year":"1998","journal-title":"J Craniomaxillofac Surg"},{"issue":"11","key":"10.1016\/j.bone.2013.06.015_bb0045","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1359\/jbmr.2000.15.11.2063","article-title":"GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis","volume":"15","author":"Yeh","year":"2000","journal-title":"J Bone Miner Res"},{"issue":"14","key":"10.1016\/j.bone.2013.06.015_bb0050","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1002\/ajmg.a.32346","article-title":"Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification","volume":"146A","author":"Adegbite","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.bone.2013.06.015_bb0055","first-page":"4243","article-title":"Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations","volume":"85","author":"Mantovani","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"10.1016\/j.bone.2013.06.015_bb0060","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1093\/rheumatology\/kel416","article-title":"Progressive osseous heteroplasia: a rare case of late onset","volume":"46","author":"Seror","year":"2007","journal-title":"Rheumatology"},{"issue":"3","key":"10.1016\/j.bone.2013.06.015_bb0065","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"},{"issue":"10","key":"10.1016\/j.bone.2013.06.015_bb0070","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":"JCEM"},{"issue":"12","key":"10.1016\/j.bone.2013.06.015_bb0075","doi-asserted-by":"crossref","first-page":"6316","DOI":"10.1210\/jc.2004-0558","article-title":"Biallelic expression of the Gsalpha gene in human bone and adipose tissue","volume":"89","author":"Mantovani","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"10.1016\/j.bone.2013.06.015_bb0080","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1359\/jbmr.2000.15.11.2084","article-title":"Progressive osseous heteroplasia","volume":"15","author":"Kaplan","year":"2000","journal-title":"J Bone Miner Res"},{"issue":"2","key":"10.1016\/j.bone.2013.06.015_bb0085","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1056\/NEJM200201103460212","article-title":"The genetic basis of progressive osseous heteroplasia","volume":"346","author":"J\u00fcppner","year":"2002","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1016\/j.bone.2013.06.015_bb0090","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1365-2230.2004.01439.x","article-title":"Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene","volume":"29","author":"Chan","year":"2004","journal-title":"Clin Exp Dermatol"},{"issue":"1","key":"10.1016\/j.bone.2013.06.015_bb0095","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/ajmg.a.10170","article-title":"Progressive osseous heteroplasia in the face of a child","volume":"118A","author":"Faust","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.bone.2013.06.015_bb0100","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/j.bone.2006.12.058","article-title":"Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report","volume":"40","author":"Gelfand","year":"2007","journal-title":"Bone"},{"key":"10.1016\/j.bone.2013.06.015_bb0105","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.bone.2009.11.001","article-title":"GNAS-associated disorders of cutaneous ossification: two different clinical presentations","volume":"46","author":"Schimmel","year":"2010","journal-title":"Bone"},{"issue":"6","key":"10.1016\/j.bone.2013.06.015_bb0110","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/s00256-008-0469-9","article-title":"A case of progressive osseous heteroplasia: a first case in Japan","volume":"37","author":"Kumagai","year":"2008","journal-title":"Skeletal Radiol"},{"issue":"6","key":"10.1016\/j.bone.2013.06.015_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"},{"issue":"7","key":"10.1016\/j.bone.2013.06.015_bb0120","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1002\/stem.1109","article-title":"Paternally inherited Gs\u03b1 mutation impairs adipogenesis and potentiates a lean phenotype in vivo","volume":"30","author":"Liu","year":"2012","journal-title":"Stem Cells"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328213002330?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328213002330?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T22:32:07Z","timestamp":1595975527000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328213002330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S8756328213002330"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2013.06.015","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: First Italian series","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2013.06.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}