{"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":1792287048868,"version":"4.4.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T00:00:00Z","timestamp":1710374400000},"content-version":"vor","delay-in-days":1459,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,4,20]],"date-time":"2020-04-20T00:00:00Z","timestamp":1587340800000},"content-version":"vor","delay-in-days":35,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000341","name":"Arthritis Research UK","doi-asserted-by":"publisher","award":["18163"],"award-info":[{"award-number":["18163"]}],"id":[{"id":"10.13039\/501100000341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["RA0676"],"award-info":[{"award-number":["RA0676"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000341","name":"Arthritis Research UK","doi-asserted-by":"publisher","award":["18163"],"award-info":[{"award-number":["18163"]}],"id":[{"id":"10.13039\/501100000341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","award":["RA0676"],"award-info":[{"award-number":["RA0676"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known about the clinical characteristics of those with early disease. Radionuclide bone scans, biochemical markers of bone turnover, and clinical characteristics were analyzed in SQSTM1 mutation carriers who took part in the Zoledronic acid in the Prevention of Paget's disease (ZiPP) study. We studied 222 individuals, of whom 54.9% were female, with mean \u00b1 SE age of 50.1\u2009\u00b1\u20090.6\u2009years. Twelve SQSTM1 mutations were observed, including p.Pro392Leu, which was present in 141 of 222 (63.5%) subjects. Bone scan examination revealed evidence of PDB in 20 subjects (9.0%), ten of whom (50%) had a single affected site. Participants with lesions were older than those without lesions but the difference was not significant (53.6\u2009\u00b1\u20099.1 versus 49.8\u2009\u00b1\u20098.9; p = .07). The mean age of participants with lesions was not significantly different from the age at which their parents were diagnosed with PDB (55\u2009years versus 59\u2009years, p = .17). All individuals with lesions were asymptomatic. Serum concentrations of total alkaline phosphatase (ALP) normalized to the upper limit of normal in each center were higher in those with lesions (0.75\u2009\u00b1\u20090.69 versus 0.42\u2009\u00b1\u20090.29 arbitary units; p\u2009&amp;lt;\u2009.0001). Similar findings were observed for other biochemical markers of bone turnover, but the sensitivity of ALP and other markers in detecting lesions was poor. Asymptomatic PDB is present in about 9% of SQSTM1 mutation carriers by the fifth decade. Further follow-up of this cohort will provide important information on the natural history of early PDB and its response to treatment. \u00a9 2020 The Authors. Journal of Bone and Mineral Research published by American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbmr.4007","type":"journal-article","created":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T12:22:30Z","timestamp":1584361350000},"page":"1246-1252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort"],"prefix":"10.1093","volume":"35","author":[{"given":"Owen","family":"Cronin","sequence":"first","affiliation":[{"name":"Rheumatic Diseases Unit Western General Hospital Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Subedi","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine Western General Hospital Edinburgh 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K","family":"Crowley","sequence":"additional","affiliation":[{"name":"St Vincent's University Hospital and University College Dublin Dublin Republic of Ireland"},{"name":"Endocrinology Department St. Vincent's University Hospital Dublin Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William D","family":"Fraser","sequence":"additional","affiliation":[{"name":"Norwich Medical School, Faculty of Medicine and Health Sciences University of East Anglia Norwich UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Tang","sequence":"additional","affiliation":[{"name":"Norwich Medical School, Faculty of Medicine and Health Sciences University of East Anglia Norwich UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6833-4232","authenticated-orcid":false,"given":"Luigi","family":"Gennari","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and 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A","family":"Kotowicz","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Deakin University Geelong Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey C","family":"Nicholson","sequence":"additional","affiliation":[{"name":"Rural Clinical School Research Centre, Darlin Heights The University of Queensland Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8143-4403","authenticated-orcid":false,"given":"Emma L","family":"Duncan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Queensland Herston Australia"},{"name":"Translational Genomics Group Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital Woolloongabba Australia"},{"name":"Endocrinology Department Royal Brisbane and Woman's Hospital Herston 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