{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:26:22Z","timestamp":1791973582193,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,11]],"date-time":"2018-04-11T00:00:00Z","timestamp":1523404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG\u20102014 n.15707"],"award-info":[{"award-number":["IG\u20102014 n.15707"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>\n                    Paget's disease of bone (PDB) is a skeletal disorder whose molecular basis is not fully elucidated. However, 10% of patients show a familial PDB and 35% of them carry mutations in the\n                    <jats:italic>SQSTM1<\/jats:italic>\n                    gene. We recently reported a founder mutation (p.Pro937Arg) in the\n                    <jats:italic>ZNF687<\/jats:italic>\n                    gene, underlying PDB complicated by giant cell tumor (GCT\/PDB) and rarely occurring in PDB patients without neoplastic degeneration. Since 80% of Italian GCT\/PDB patients derive from Avellino, we hypothesized that\n                    <jats:italic>ZNF687<\/jats:italic>\n                    mutation rate was higher in this region than elsewhere. Interestingly, our molecular analysis on 30 PDB patients showed that 33% hosted\n                    <jats:italic>ZNF687<\/jats:italic>\n                    mutations, with the p.Pro937Arg identified in 8 familial cases. Two novel\n                    <jats:italic>ZNF687<\/jats:italic>\n                    mutations (p.Pro665Leu and p.Gln784Glu) were detected in 2 sporadic patients. Only 2 subjects were positive for the p.Pro392Leu mutation in\n                    <jats:italic>SQSTM1. ZNF687<\/jats:italic>\n                    \u2010mutated patients showed a severe PDB, with a remarkable number of affected sites. in vitro studies revealed that the\n                    <jats:italic>ZNF687<\/jats:italic>\n                    \u2010mutant osteoclasts appeared as giant sized with up to 150 nuclei, never described in PDB. Finally, we also confirmed the causality of the p.Pro937Arg mutation in 4 additional GCT\/PDB cases deriving from the same geographic area, indicating that PDB and GCT\/PDB represent 2 sides of the same coin.\n                  <\/jats:p>","DOI":"10.1111\/cge.13247","type":"journal-article","created":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T06:17:01Z","timestamp":1519885021000},"page":"1240-1244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["<i>ZNF687<\/i>\n                    mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone"],"prefix":"10.1111","volume":"93","author":[{"given":"G.","family":"Divisato","sequence":"first","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council of Italy  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Scotto di Carlo","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council of Italy  Naples Italy"},{"name":"Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) University of Campania \u201cLuigi Vanvitelli\u201d  Caserta Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Petrillo","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council of Italy  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7879-8441","authenticated-orcid":false,"given":"T.","family":"Esposito","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council of Italy  Naples Italy"},{"name":"IRCCS INM Neuromed  Pozzilli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3812-2471","authenticated-orcid":false,"given":"F.","family":"Gianfrancesco","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati\u2010Traverso\u201d National Research Council of Italy  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp1204713"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI24281"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3156"},{"key":"e_1_2_6_5_1","first-page":"CD004956","article-title":"Bisphosphonates for Paget's disease of bone in adults","volume":"12","author":"Corral\u2010Gudino L","year":"2017","journal-title":"Cochrane Database Syst 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