{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T10:54:10Z","timestamp":1789901650233,"version":"4.0.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2016,12,10]],"date-time":"2016-12-10T00:00:00Z","timestamp":1481328000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"crossref","award":["2014CB942903"],"award-info":[{"award-number":["2014CB942903"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Natural Science Foundation of China (CN)","award":["81370978"],"award-info":[{"award-number":["81370978"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["30800387"],"award-info":[{"award-number":["30800387"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science and Technology Commission of Shanghai Municipality (CN)","award":["14JC1405000"],"award-info":[{"award-number":["14JC1405000"]}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology commission of Shanghai municipality","doi-asserted-by":"publisher","award":["14ZR1431900"],"award-info":[{"award-number":["14ZR1431900"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Chongqing city fundamental and advanced research projects","award":["CSTC2013jcyjC00009"],"award-info":[{"award-number":["CSTC2013jcyjC00009"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Osteoporos Int"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s00198-016-3866-2","type":"journal-article","created":{"date-parts":[[2016,12,10]],"date-time":"2016-12-10T17:36:02Z","timestamp":1481391362000},"page":"1473-1480","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta"],"prefix":"10.1007","volume":"28","author":[{"given":"H.","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Yue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,12,10]]},"reference":[{"key":"3866_CR1","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s11154-008-9074-4","volume":"9","author":"MS Cheung","year":"2008","unstructured":"Cheung MS, Glorieux FH (2008) Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord 9:153\u2013160","journal-title":"Rev Endocr Metab Disord"},{"key":"3866_CR2","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","volume":"127","author":"R Morello","year":"2006","unstructured":"Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B (2006) CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127:291\u2013304","journal-title":"Cell"},{"key":"3866_CR3","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1056\/NEJMoa063804","volume":"355","author":"AM Barnes","year":"2006","unstructured":"Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC (2006) Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 355:2757\u20132764","journal-title":"N Engl J Med"},{"key":"3866_CR4","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/nrendo.2011.81","volume":"7","author":"A Forlino","year":"2011","unstructured":"Forlino A, Cabral WA, Barnes AM, Marini JC (2011) New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7:540\u2013557","journal-title":"Nat Rev Endocrinol"},{"key":"3866_CR5","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","volume":"164a","author":"FS Van Dijk","year":"2014","unstructured":"Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164a:1470\u20131481","journal-title":"Am J Med Genet A"},{"key":"3866_CR6","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2015.01.002","volume":"96","author":"L Garbes","year":"2015","unstructured":"Garbes L, Kim K, Riess A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C (2015) Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet 96:432\u2013439","journal-title":"Am J Hum Genet"},{"key":"3866_CR7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12678","author":"S Moosa","year":"2015","unstructured":"Moosa S, Chung BH, Tung JY, Altmuller J, Thiele H, Nurnberg P, Netzer C, Nishimura G, Wollnik B (2015) Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin Genet. doi: 10.1111\/cge.12678 [Epub ahead of print]","journal-title":"Clin Genet"},{"key":"3866_CR8","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00774-011-0284-6","volume":"30","author":"ZL Zhang","year":"2012","unstructured":"Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ (2012) The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. J Bone Miner Metab 30:69\u201377","journal-title":"J Bone Miner Metab"},{"key":"3866_CR9","doi-asserted-by":"crossref","first-page":"e72337","DOI":"10.1371\/journal.pone.0072337","volume":"8","author":"Z Zhang","year":"2013","unstructured":"Zhang Z, Li M, He JW, Fu WZ, Zhang CQ, Zhang ZL (2013) Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. PLoS One 8:e72337","journal-title":"PLoS One"},{"key":"3866_CR10","doi-asserted-by":"crossref","first-page":"e107594","DOI":"10.1371\/journal.pone.0107594","volume":"9","author":"P Zhou","year":"2014","unstructured":"Zhou P, Liu Y, Lv F, Nie M, Jiang Y, Wang O, Xia W, Xing X, Li M (2014) Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. PLoS One 9:e107594","journal-title":"PLoS One"},{"key":"3866_CR11","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/jhg.2016.11","volume":"61","author":"F Lv","year":"2016","unstructured":"Lv F, Xu XJ, Wang JY, Liu Y, Asan WJW, Song LJ, Song YW, Jiang Y, Wang O, Xia WB, Xing XP, Li M (2016) Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta. J Hum Genet 61:539\u2013545","journal-title":"J Hum Genet"},{"key":"3866_CR12","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1038\/aps.2010.91","volume":"31","author":"H Zhang","year":"2010","unstructured":"Zhang H, He JW, Gao G, Yue H, Yu JB, Hu WW, Gu JM, Hu YQ, Li M, Fu WZ, Liu YJ, Zhang ZL (2010) Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families. Acta Pharmacol Sin 31:977\u2013983","journal-title":"Acta Pharmacol Sin"},{"key":"3866_CR13","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1093\/ajcn\/68.5.1111","volume":"68","author":"LM Maynard","year":"1998","unstructured":"Maynard LM, Guo SS, Chumlea WC, Roche AF, Wisemandle WA, Zeller CM, Towne B, Siervogel RM (1998) Total-body and regional bone mineral content and areal bone mineral density in children aged 8\u201318\u00a0y: the Fels Longitudinal Study. Am J Clin Nutr 68:1111\u20131117","journal-title":"Am J Clin Nutr"},{"key":"3866_CR14","doi-asserted-by":"crossref","first-page":"e47264","DOI":"10.1371\/journal.pone.0047264","volume":"7","author":"HK Lu","year":"2012","unstructured":"Lu HK, Zhang Z, Ke YH, He JW, Fu WZ, Zhang CQ, Zhang ZL (2012) High prevalence of vitamin D insufficiency in China: relationship with the levels of parathyroid hormone and markers of bone turnover. PLoS One 7:e47264","journal-title":"PLoS One"},{"key":"3866_CR15","doi-asserted-by":"crossref","first-page":"E665","DOI":"10.1210\/jc.2013-2086","volume":"99","author":"J He","year":"2014","unstructured":"He J, Zhang H, Wang C, Zhang Z, Yue H, Hu W, Gu J, Fu W, Hu Y, Li M, Liu Y, Zheng H, Zhang Z (2014) Associations of serum sclerostin and polymorphisms in the SOST gene with bone mineral density and markers of bone metabolism in postmenopausal Chinese women. J Clin Endocrinol Metab 99:E665\u2013E673","journal-title":"J Clin Endocrinol Metab"},{"key":"3866_CR16","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/ng.680","volume":"42","author":"Y Li","year":"2010","unstructured":"Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparso T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jorgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J (2010) Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 42:969\u2013972","journal-title":"Nat Genet"},{"key":"3866_CR17","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ajhg.2011.11.019","volume":"90","author":"Z Zhang","year":"2012","unstructured":"Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y (2012) Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 90:125\u2013132","journal-title":"Am J Hum Genet"},{"key":"3866_CR18","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491\u2013498","journal-title":"Nat Genet"},{"key":"3866_CR19","doi-asserted-by":"crossref","first-page":"e1002084","DOI":"10.1371\/journal.pgen.1002084","volume":"7","author":"Y Shi","year":"2011","unstructured":"Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z (2011) Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet 7:e1002084","journal-title":"PLoS Genet"},{"key":"3866_CR20","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164","journal-title":"Nucleic Acids Res"},{"key":"3866_CR21","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0022-3476(87)80292-5","volume":"110","author":"DE Cole","year":"1987","unstructured":"Cole DE, Carpenter TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr 110:76\u201380","journal-title":"J Pediatr"},{"key":"3866_CR22","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/j.ajhg.2014.12.027","volume":"96","author":"F Rauch","year":"2015","unstructured":"Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bachinger HP, Moffatt P (2015) Cole-carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Am J Hum Genet 96:425\u2013431","journal-title":"Am J Hum Genet"},{"key":"3866_CR23","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.ceb.2013.04.005","volume":"25","author":"EA Miller","year":"2013","unstructured":"Miller EA, Schekman R (2013) COPII\u2014a flexible vesicle formation system. Curr Opin Cell Biol 25:420\u2013427","journal-title":"Curr Opin Cell Biol"},{"key":"3866_CR24","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ydbio.2010.03.016","volume":"342","author":"S Ohisa","year":"2010","unstructured":"Ohisa S, Inohaya K, Takano Y, Kudo A (2010) sec24d encoding a component of COPII is essential for vertebra formation, revealed by the analysis of the medaka mutant, vbi. Dev Biol 342:85\u201395","journal-title":"Dev Biol"}],"container-title":["Osteoporosis International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-016-3866-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00198-016-3866-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00198-016-3866-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T07:22:23Z","timestamp":1589700143000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00198-016-3866-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,10]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["3866"],"URL":"https:\/\/doi.org\/10.1007\/s00198-016-3866-2","relation":{},"ISSN":["0937-941X","1433-2965"],"issn-type":[{"value":"0937-941X","type":"print"},{"value":"1433-2965","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,10]]}}}