{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:14:09Z","timestamp":1764494049155,"version":"3.37.3"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100007338","name":"Barnes-Jewish Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007338","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK067145"],"award-info":[{"award-number":["DK067145"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","thebonejournal.com","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2018,11]]},"DOI":"10.1016\/j.bone.2018.07.022","type":"journal-article","created":{"date-parts":[[2018,8,2]],"date-time":"2018-08-02T12:36:45Z","timestamp":1533213405000},"page":"321-332","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"special_numbering":"C","title":["Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review"],"prefix":"10.1016","volume":"116","author":[{"given":"Michael P.","family":"Whyte","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Deepak Amalnath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William H.","family":"McAlister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radhakrishna","family":"Pedapati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivekanandan","family":"Muthupillai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenghui","family":"Duan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Huskey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinieth N.","family":"Bijanki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2018.07.022_bb0005","first-page":"209","article-title":"Osteopetrosis with syndactyly: a morphological variant of Albers-Schonberg's disease","volume":"40","author":"Truswell","year":"1958","journal-title":"J. Bone Joint Surg. (Br.)"},{"key":"10.1016\/j.bone.2018.07.022_bb0010","series-title":"Handbuch der","first-page":"351","article-title":"Sklersteose","author":"Hansen","year":"1967"},{"year":"2018","series-title":"OMIM\u00ae","author":"Online Mendelian Inheritance in Man","key":"10.1016\/j.bone.2018.07.022_bb0015"},{"key":"10.1016\/j.bone.2018.07.022_bb0020","doi-asserted-by":"crossref","first-page":"19489","DOI":"10.1074\/jbc.M110.190330","article-title":"Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function","volume":"286","author":"Leupin","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bone.2018.07.022_bb0025","series-title":"Genetics of Bone Biology and Skeletal Disease","first-page":"505","article-title":"Sclerosing Bone Disorders. Chapter 29","author":"Boudin","year":"2018"},{"key":"10.1016\/j.bone.2018.07.022_bb0030","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.bone.2017.03.044","article-title":"LRP5: from bedside to bench to bone","volume":"102","author":"Williams","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.07.022_bb0035","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1007\/s002470050458","article-title":"International working group on constitutional diseases of bone. International nomenclature and classification of the osteochondrodysplasias","volume":"28","author":"Rimoin","year":"1998","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.bone.2018.07.022_bb0040","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1136\/jmg.25.3.200","article-title":"Sclerosteosis","volume":"25","author":"Beighton","year":"1988","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0045","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1136\/jmg.31.12.976","article-title":"Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin","volume":"31","author":"Bueno","year":"1994","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0050","article-title":"A novel loss-of-sclerostin function mutation in a first Egyptian family with sclerosteosis","volume":"517815","author":"Fayez","year":"2015","journal-title":"Biomed. Res. Int."},{"key":"10.1016\/j.bone.2018.07.022_bb0055","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ejmg.2014.02.007","article-title":"Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report","volume":"57","author":"Belkhribchia","year":"2014","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.bone.2018.07.022_bb0060","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1086\/318811","article-title":"Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein","volume":"68","author":"Brunkow","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0065","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/j.bone.2005.02.019","article-title":"A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene","volume":"36","author":"Balemans","year":"2005","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.07.022_bb0070","doi-asserted-by":"crossref","DOI":"10.1002\/humu.21274","article-title":"First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function","volume":"31","author":"Piters","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bone.2018.07.022_bb0075","first-page":"509","article-title":"Weitere Mitteilungen uber die Marmorknochenkrankheit (Albers-Schonbergsche Krankheit) nebst Bemerkungen zur Differentialdiagnose","volume":"132","author":"Peitrushka","year":"1958","journal-title":"Klin Monatbl"},{"key":"10.1016\/j.bone.2018.07.022_bb0080","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.bone.2012.10.009","article-title":"Novel SOST gene mutation in a sclerosteosis patient and her parents","volume":"52","author":"Bhadada","year":"2013","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.07.022_bb0085","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/cge.12655","article-title":"Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family","volume":"89","author":"He","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0090","doi-asserted-by":"crossref","first-page":"273","DOI":"10.2106\/00004623-197557020-00026","article-title":"Sclerosteosis: a case report","volume":"57","author":"Sugiura","year":"1975","journal-title":"J Bone Surg (Am)"},{"key":"10.1016\/j.bone.2018.07.022_bb0095","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1093\/hmg\/10.5.537","article-title":"Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)","volume":"10","author":"Balemans","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0100","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/S0002-9610(41)90660-8","article-title":"Osteopetrosis, four cases in one family","volume":"53","author":"Higinbotham","year":"1941","journal-title":"Am. J. Surg."},{"key":"10.1016\/j.bone.2018.07.022_bb0105","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1212\/WNL.33.3.267","article-title":"Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship","volume":"33","author":"Stein","year":"1983","journal-title":"Neurology"},{"key":"10.1016\/j.bone.2018.07.022_bb0110","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1089\/gte.2008.0036","article-title":"A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin","volume":"12","author":"Kim","year":"2008","journal-title":"Genet. Test."},{"key":"10.1016\/j.bone.2018.07.022_bb0115","first-page":"825","article-title":"Sclerosteosis: a marker of Dutch ancestry?","volume":"5","author":"Freire de Paes Alves","year":"1982","journal-title":"Rev Brasil Genet"},{"key":"10.1016\/j.bone.2018.07.022_bb0120","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1159\/000051649","article-title":"Syndactyly\/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis","volume":"202","author":"Itin","year":"2001","journal-title":"Dermatology"},{"key":"10.1016\/j.bone.2018.07.022_bb0125","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1002\/jbmr.2782","article-title":"A novel domain-specific mutation in a sclerosteosis patient suggests a role of LRP4 as an anchor for sclerostin in human bone","volume":"31","author":"Fijalkowski","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2018.07.022_bb0130","doi-asserted-by":"crossref","first-page":"270","DOI":"10.4103\/0971-6866.116109","article-title":"Sclerosterosis (Truswell-Hansen disease)","volume":"19","author":"Amalnath","year":"2013","journal-title":"Indian J Hum Genet."},{"issue":"1062","key":"10.1016\/j.bone.2018.07.022_bb0135","doi-asserted-by":"crossref","first-page":"20150349","DOI":"10.1259\/bjr.20150349","article-title":"Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders","volume":"89","author":"Boulet","year":"2016","journal-title":"Brit J. Radiol"},{"key":"10.1016\/j.bone.2018.07.022_bb0140","doi-asserted-by":"crossref","first-page":"19883","DOI":"10.1074\/jbc.M413274200","article-title":"Sclerostin binds to LRP5\/6 and antagonizes canonical Wnt signaling","volume":"280","author":"Li","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bone.2018.07.022_bb0145","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1007\/s00223-016-0126-6","article-title":"Sclerostin inhibition in the management of osteoporosis","volume":"98","author":"Appelman-Dijkstra","year":"2016","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2018.07.022_bb0150","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1006\/geno.1998.5341","article-title":"Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening","volume":"51","author":"Nakayama","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.bone.2018.07.022_bb0155","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1034\/j.1399-0004.2003.00036.x","article-title":"The natural history of sclerosteosis","volume":"63","author":"Hamersma","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0160","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/jbmr.2706","article-title":"Mutations in known monogenic high bone mass loci only explain a small proportion of high bone mass cases","volume":"31","author":"Gregson","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2018.07.022_bb0165","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/s00439-011-0947-3","article-title":"Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia","volume":"129","author":"Kim","year":"2011","journal-title":"Hum. Genet."},{"issue":"107","key":"10.1016\/j.bone.2018.07.022_bb0170","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0092-8674(01)00571-2","article-title":"Osteoporosis-pseudoglioma syndrome collaborative group. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development","volume":"16","author":"Gong","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.bone.2018.07.022_bb0175","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1086\/338450","article-title":"A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait","volume":"70","author":"Little","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0180","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1056\/NEJMoa013444","article-title":"High bone density due to a mutation in LDL-receptor-related protein 5","volume":"346","author":"Boyden","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2018.07.022_bb0185","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.bone.2004.05.023","article-title":"Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation","volume":"35","author":"Sutherland","year":"2004","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.07.022_bb0190","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmg.39.2.91","article-title":"Identification of a 52\u202fkb deletion downstream of the SOST gene in patients with van Buchem disease","volume":"39","author":"Balesman","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.07.022_bb0195","doi-asserted-by":"crossref","first-page":"2096","DOI":"10.1056\/NEJM200405133502017","article-title":"High-bone-mass disease and LRP5 (letter)","volume":"350","author":"Whyte","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2018.07.022_bb0200","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1359\/JBMR.041223","article-title":"Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation","volume":"20","author":"Rickels","year":"2005","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2018.07.022_bb0205","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1242\/jcs.02883","article-title":"Wnt signalling in osteoblasts regulates expression of the receptor activator of NFkappaB ligand and inhibits osteoclastogenesis in vitro","volume":"119","author":"Spencer","year":"2006","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.bone.2018.07.022_bb0210","article-title":"LRP6 mutation: A new cause of autosomal dominant high bone mass (Abstract)","author":"Whyte","year":"2018","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2018.07.022_bb0215","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1007\/s00198-011-1669-z","article-title":"Sclerostin levels during growth in children","volume":"23","author":"Sirmani","year":"2012","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.bone.2018.07.022_bb0220","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1002\/jbmr.3160","article-title":"The Lrp4R1170Q homozygous knock-in mouse recapitulates the bone phenotype of sclerosteosis in humans","volume":"32","author":"Boudin","year":"2017","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2018.07.022_bb0225","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1038\/ng.3917","article-title":"The promise of discovering population-specific disease-associated genes in South Asia","volume":"49","author":"Nakatsuka","year":"2017","journal-title":"Nat. Genet."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328218302904?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328218302904?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,30]],"date-time":"2018-10-30T05:46:18Z","timestamp":1540878378000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328218302904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":45,"alternative-id":["S8756328218302904"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2018.07.022","relation":{},"ISSN":["8756-3282"],"issn-type":[{"type":"print","value":"8756-3282"}],"subject":[],"published":{"date-parts":[[2018,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2018.07.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}