{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T01:30:48Z","timestamp":1792287048109,"version":"4.4.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,1,5]],"date-time":"2016-01-05T00:00:00Z","timestamp":1451952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1016\/j.ajhg.2015.12.016","type":"journal-article","created":{"date-parts":[[2016,2,4]],"date-time":"2016-02-04T15:17:37Z","timestamp":1454599057000},"page":"275-286","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":83,"title":["ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor"],"prefix":"10.1016","volume":"98","author":[{"given":"Giuseppina","family":"Divisato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Formicola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Merlotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pazzaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Del\u00a0Fattore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethel","family":"Siris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Orcel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques\u00a0P.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranuccio","family":"Nuti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Strazzullo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria\u00a0Serena","family":"Benassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u00a0Leonor","family":"Cancela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laetitia","family":"Michou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Rendina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Gennari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Gianfrancesco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2015.12.016_bib1","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1056\/NEJMcp1204713","article-title":"Clinical practice. Paget\u2019s disease of bone","volume":"368","author":"Ralston","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2015.12.016_bib2","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1172\/JCI24281","article-title":"Paget disease of bone","volume":"115","author":"Roodman","year":"2005","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2015.12.016_bib3","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1056\/NEJMcp060278","article-title":"Clinical practice. Paget\u2019s disease of bone","volume":"355","author":"Whyte","year":"2006","journal-title":"N.\u00a0Engl. J. Med."},{"issue":"Suppl 2","key":"10.1016\/j.ajhg.2015.12.016_bib4","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1359\/jbmr.06s211","article-title":"Osteosarcoma in Paget\u2019s disease of bone","volume":"21","author":"Hansen","year":"2006","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib5","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1002\/1097-0142(197908)44:2<742::AID-CNCR2820440247>3.0.CO;2-U","article-title":"Giant cell tumor in Paget\u2019s disease of bone: familial and geographic clustering","volume":"44","author":"Jacobs","year":"1979","journal-title":"Cancer"},{"issue":"352","key":"10.1016\/j.ajhg.2015.12.016_bib6","first-page":"187","article-title":"Paget\u2019s disease of bone complicated by giant cell tumor","author":"Gebhart","year":"1998","journal-title":"Clin. Orthop. Relat. Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib7","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/jbmr.2349","article-title":"Clinical characteristics and evolution of giant cell tumor occurring in Paget\u2019s disease of bone","volume":"30","author":"Rendina","year":"2015","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib8","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1086\/340731","article-title":"Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1\/p62) in Paget disease of bone","volume":"70","author":"Laurin","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.12.016_bib9","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1093\/hmg\/11.22.2735","article-title":"Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget\u2019s disease","volume":"11","author":"Hocking","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2015.12.016_bib10","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/ng.562","article-title":"Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget\u2019s disease of bone","volume":"42","author":"Albagha","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.12.016_bib11","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1038\/ng.845","article-title":"Genome-wide association identifies three new susceptibility loci for Paget\u2019s disease of bone","volume":"43","author":"Albagha","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.12.016_bib12","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/jbmr.1750","article-title":"Giant cell tumor occurring in familial Paget\u2019s disease of bone: report of clinical characteristics and linkage analysis of a large pedigree","volume":"28","author":"Gianfrancesco","year":"2013","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1196\/annals.1346.016","article-title":"Paget\u2019s disease of bone and genetic disorders of RANKL\/OPG\/RANK\/NF-kappaB signaling","volume":"1068","author":"Whyte","year":"2006","journal-title":"Ann. N Y Acad. Sci."},{"key":"10.1016\/j.ajhg.2015.12.016_bib14","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1002\/jbmr.31","article-title":"SQSTM1 gene analysis and gene-environment interaction in Paget\u2019s disease of bone","volume":"25","author":"Gennari","year":"2010","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib15","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.bone.2010.11.004","article-title":"Novel SQSTM1 mutations in patients with Paget\u2019s disease of bone in an unrelated multiethnic American population","volume":"48","author":"Michou","year":"2011","journal-title":"Bone"},{"key":"10.1016\/j.ajhg.2015.12.016_bib16","doi-asserted-by":"crossref","first-page":"3654","DOI":"10.1093\/hmg\/ddt215","article-title":"Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene","volume":"22","author":"Esposito","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2015.12.016_bib17","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/1750-1172-8-91","article-title":"Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy","volume":"8","author":"Esposito","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2015.12.016_bib18","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1186\/1471-2105-10-202","article-title":"NLStradamus: a simple Hidden Markov Model for nuclear localization signal prediction","volume":"10","author":"Nguyen Ba","year":"2009","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.ajhg.2015.12.016_bib19","doi-asserted-by":"crossref","first-page":"13405","DOI":"10.1038\/srep13405","article-title":"Nuclear Localization of the DNA Repair Scaffold XRCC1: Uncovering the Functional Role of a Bipartite NLS","volume":"5","author":"Kirby","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2015.12.016_bib20","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1006\/jmbi.1999.3310","article-title":"Sequence and structure-based prediction of eukaryotic protein phosphorylation sites","volume":"294","author":"Blom","year":"1999","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2015.12.016_bib21","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/j.cell.2011.05.006","article-title":"Analysis of the human endogenous coregulator complexome","volume":"145","author":"Malovannaya","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2015.12.016_bib22","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1359\/jbmr.060822","article-title":"Evidence for increased clinical severity of familial and sporadic Paget\u2019s disease of bone in Campania, southern Italy","volume":"21","author":"Rendina","year":"2006","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib23","doi-asserted-by":"crossref","first-page":"4147","DOI":"10.1242\/dev.012385","article-title":"Definitive hematopoiesis initiates through a committed erythromyeloid progenitor in the zebrafish embryo","volume":"134","author":"Bertrand","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2015.12.016_bib24","doi-asserted-by":"crossref","first-page":"D177","DOI":"10.1093\/nar\/gks1060","article-title":"ChIPBase: a database for decoding the transcriptional regulation of long non-coding RNA and microRNA genes from ChIP-Seq data","volume":"41","author":"Yang","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2015.12.016_bib25","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1177\/154411130401500504","article-title":"Zinc finger transcription factors in skeletal development","volume":"15","author":"Ganss","year":"2004","journal-title":"Crit. Rev. Oral Biol. Med."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971500511X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971500511X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,15]],"date-time":"2018-09-15T14:50:43Z","timestamp":1537023043000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292971500511X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["S000292971500511X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.12.016","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.12.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}