{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:39:44Z","timestamp":1792190384691,"version":"4.4.0"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,12,1]]},"DOI":"10.1093\/hmg\/ddx339","type":"journal-article","created":{"date-parts":[[2017,8,28]],"date-time":"2017-08-28T11:07:00Z","timestamp":1503918420000},"page":"4572-4587","source":"Crossref","is-referenced-by-count":20,"title":["Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia"],"prefix":"10.1093","volume":"26","author":[{"given":"Wilson Cheuk Wing","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwok Yeung","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin Wo","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian Chor Wing","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halina","family":"Chik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi Jia","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Boot-Handford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Boyde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth Man Chee","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn Song Eng","family":"Cheah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,8,29]]},"reference":[{"key":"key\n\t\t\t\t20171120034605_ddx339-B1","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nature01658","article-title":"Osteoclast differentiation and activation","volume":"423","year":"2003","journal-title":"Nature"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B2","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/nature01660","article-title":"Control of osteoblast function and regulation of bone mass","volume":"423","year":"2003","journal-title":"Nature"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B3","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1146\/annurev-pathol-011110-130203","article-title":"Disorders of bone remodeling","volume":"6","year":"2011","journal-title":"Annu. Rev. Pathol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B4","first-page":"126","article-title":"Transcriptional regulation of bone formation","volume":"3","year":"2011","journal-title":"Front. Biosci"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B5","first-page":"3","year":"2014"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B6","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1146\/annurev.genom.9.081307.164437","article-title":"Transcriptional control of skeletogenesis","volume":"9","year":"2008","journal-title":"Annu. Rev. Genomics Hum. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.abb.2014.05.003","article-title":"Osteoblast and osteocyte: games without frontiers","volume":"561","year":"2014","journal-title":"Arch. Biochem. Biophys"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B8","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/jbmr.320","article-title":"The amazing osteocyte","volume":"26","year":"2011","journal-title":"J. Bone Min. Res. Off. J. Am. Soc. Bone Min. Res"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B9","first-page":"176","article-title":"Buried alive: how osteoblasts become osteocytes","volume":"235","year":"2006","journal-title":"Dev. Dyn. Off. Publ. Am. Assoc. Anatomists"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B10","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1038\/ng1905","article-title":"Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism","volume":"38","year":"2006","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B11","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1002\/jbmr.294","article-title":"Unique roles of phosphorus in endochondral bone formation and osteocyte maturation","volume":"26","year":"2011","journal-title":"J. Bone Min. Res. Off. J. Am. Soc. Bone Min. Res"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B12","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1359\/jbmr.080216","article-title":"Targeted deletion of the sclerostin gene in mice results in increased bone formation and bone strength","volume":"23","year":"2008","journal-title":"J. Bone Min. Res. Off. J. Am. Soc. Bone Min. Res"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B13","doi-asserted-by":"crossref","first-page":"14092","DOI":"10.1073\/pnas.1207188109","article-title":"Targeted deletion of Sost distal enhancer increases bone formation and bone mass","volume":"109","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B14","doi-asserted-by":"crossref","first-page":"33814","DOI":"10.1074\/jbc.M607290200","article-title":"A crucial role for matrix metalloproteinase 2 in osteocytic canalicular formation and bone metabolism","volume":"281","year":"2006","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B15","doi-asserted-by":"crossref","first-page":"2435","DOI":"10.1002\/ajmg.a.31938","article-title":"A boy with severe craniodiaphyseal dysplasia and apparently normal mother","volume":"143A","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B16","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","year":"2011","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B17","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","year":"2001","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B18","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","year":"2001","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B19","doi-asserted-by":"crossref","first-page":"E1526","DOI":"10.1002\/humu.21274","article-title":"First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function","volume":"31","year":"2010","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B20","doi-asserted-by":"crossref","first-page":"6392","DOI":"10.1210\/jc.2005-1235","article-title":"Bone mineral density in sclerosteosis; affected individuals and gene carriers","volume":"90","year":"2005","journal-title":"J. Clin. Endocrinol. Metab"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B21","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmg.39.2.91","article-title":"Identification of a 52\u2009kb deletion downstream of the SOST gene in patients with van Buchem disease","volume":"39","year":"2002","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B22","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ajmg.10401","article-title":"A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population","volume":"110","year":"2002","journal-title":"Am. J. Med. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B23","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1101\/gr.3437105","article-title":"Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease","volume":"15","year":"2005","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B24","doi-asserted-by":"crossref","first-page":"e44.","DOI":"10.1371\/journal.pbio.0050044","article-title":"Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function","volume":"5","year":"2007","journal-title":"PLoS Biol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B25","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng0993-79","article-title":"A type X collagen mutation causes Schmid metaphyseal chondrodysplasia","volume":"5","year":"1993","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B26","first-page":"79","article-title":"Genetic craniotubular bone dysplasias and hyperostosis: a critical analysis","volume":"5","year":"1969","journal-title":"Birth Defects"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B27","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/bjs.18003714509","article-title":"A rare case of bone dystrophy","volume":"37","year":"1949","journal-title":"Br. J. Surg"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B28","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1093\/bioinformatics\/btq282","article-title":"geWorkbench: an open source platform for integrative genomics","volume":"26","year":"2010","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B29","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1126\/science.1128294","article-title":"Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes","volume":"313","year":"2006","journal-title":"Science"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B30","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1124\/mol.104.001339","article-title":"Sodium 4-phenylbutyrate protects against cerebral ischemic injury","volume":"66","year":"2004","journal-title":"Mol. Pharmacol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B31","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.surg.2005.04.019","article-title":"Sodium 4-phenylbutyrate protects against liver ischemia reperfusion injury by inhibition of endoplasmic reticulum-stress mediated apoptosis","volume":"138","year":"2005","journal-title":"Surgery"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B32","first-page":"22","article-title":"Craniodiaphyseal dysplasia, a disease or group of diseases?","volume":"25","year":"1974","journal-title":"J. Can. Assoc. Radiol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B33","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1359\/jbmr.090218","article-title":"Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia","volume":"24","year":"2009","journal-title":"J. Bone Min. Res. Off. J. Am. Soc. Bone Min. Res"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B34","doi-asserted-by":"crossref","first-page":"7992","DOI":"10.1074\/jbc.M003361200","article-title":"Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease","volume":"276","year":"2001","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B35","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1210\/er.2012-1026","article-title":"The osteocyte: an endocrine cell \u2026 and more","volume":"34","year":"2013","journal-title":"Endocrine Rev"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B36","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1242\/jcs.068833","article-title":"In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences","volume":"123","year":"2010","journal-title":"J. Cell Sci"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B37","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1007\/s12192-010-0193-y","article-title":"An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia","volume":"15","year":"2010","journal-title":"Cell Stress Chaperones"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B38","doi-asserted-by":"crossref","first-page":"e7.","DOI":"10.1371\/journal.pgen.0040007","article-title":"ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta","volume":"4","year":"2008","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B39","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nrm2199","article-title":"Signal integration in the endoplasmic reticulum unfolded protein response","volume":"8","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B40","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.semcdb.2007.09.008","article-title":"Ubiquitin receptors and ERAD: a network of pathways to the proteasome","volume":"18","year":"2007","journal-title":"Semin. Cell Dev. Biol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B41","doi-asserted-by":"crossref","first-page":"5019","DOI":"10.1091\/mbc.E08-08-0839","article-title":"JAMP optimizes ERAD to protect cells from unfolded proteins","volume":"19","year":"2008","journal-title":"Mol. Biol. Cell"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B42","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/jcp.21543","article-title":"PERK is essential for neonatal skeletal development to regulate osteoblast proliferation and differentiation","volume":"217","year":"2008","journal-title":"J. Cell. Physiol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B43","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0092-8674(04)00344-7","article-title":"ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome","volume":"117","year":"2004","journal-title":"Cell"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B44","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1038\/ncb1963","article-title":"Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation","volume":"11","year":"2009","journal-title":"Nat. Cell Biol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B45","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/embor.2011.34","article-title":"The IRE1alpha-XBP1 pathway is essential for osteoblast differentiation through promoting transcription of Osterix","volume":"12","year":"2011","journal-title":"EMBO Rep"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B46","doi-asserted-by":"crossref","first-page":"47109","DOI":"10.1074\/jbc.M410010200","article-title":"ATF4, the osteoblast accumulation of which is determined post-translationally, can induce osteoblast-specific gene expression in non-osteoblastic cells","volume":"279","year":"2004","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B47","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.cmet.2006.10.010","article-title":"ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae","volume":"4","year":"2006","journal-title":"Cell Metab"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B48","doi-asserted-by":"crossref","first-page":"30689","DOI":"10.1074\/jbc.M500750200","article-title":"Cooperative interactions between activating transcription factor 4 and Runx2\/Cbfa1 stimulate osteoblast-specific osteocalcin gene expression","volume":"280","year":"2005","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B49","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/nrd3976","article-title":"Targeting the unfolded protein response in disease","volume":"12","year":"2013","journal-title":"Nat. Rev. Drug Discov"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B50","first-page":"a004507","article-title":"Chemical and biological approaches for adapting proteostasis to ameliorate protein misfolding and aggregation diseases: progress and prognosis","volume":"3","year":"2011","journal-title":"Cold Spring Harbor Perspect. Biol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B51","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1056\/NEJMoa066596","article-title":"Survival after treatment with phenylacetate and benzoate for urea-cycle disorders","volume":"356","year":"2007","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B52","doi-asserted-by":"crossref","first-page":"918","DOI":"10.2337\/db10-1433","article-title":"Sodium phenylbutyrate, a drug with known capacity to reduce endoplasmic reticulum stress, partially alleviates lipid-induced insulin resistance and beta-cell dysfunction in humans","volume":"60","year":"2011","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B53","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1016\/j.jvs.2010.06.172","article-title":"Sodium 4-phenylbutyrate protects against spinal cord ischemia by inhibition of endoplasmic reticulum stress","volume":"52","year":"2010","journal-title":"J. Vasc. Surg"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B54","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.bone.2005.07.028","article-title":"The use of micro-CT to evaluate cortical bone geometry and strength in nude rats: correlation with mechanical testing, pQCT and DXA","volume":"38","year":"2006","journal-title":"Bone"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B55","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/978-1-61779-415-5_24","article-title":"Scanning electron microscopy of bone","volume":"816","year":"2012","journal-title":"Methods Mol. Biol"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B56","doi-asserted-by":"crossref","first-page":"166","DOI":"10.3109\/17453679508995514","article-title":"A staining method for bone canaliculi","volume":"66","year":"1995","journal-title":"Acta Orthop. Scand"},{"key":"key\n\t\t\t\t20171120034605_ddx339-B57","doi-asserted-by":"crossref","first-page":"W169","DOI":"10.1093\/nar\/gkm415","article-title":"DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists","volume":"35","year":"2007","journal-title":"Nucleic Acids Res"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/23\/4572\/21869303\/ddx339.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T08:46:20Z","timestamp":1511167580000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/26\/23\/4572\/4096719"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,29]]},"references-count":57,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2017,8,29]]},"published-print":{"date-parts":[[2017,12,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx339","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,12,1]]},"published":{"date-parts":[[2017,8,29]]}}}