{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T19:35:29Z","timestamp":1794339329333,"version":"4.9.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T00:00:00Z","timestamp":1738713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shenzhen Clinical Research Center for Rare Diseases"},{"name":"Sanming project of Medicine in Shenzhen"},{"name":"Shenzhen Key Medical Discipline Construction Fund"},{"name":"Guangdong Basic and Applied Basic Research Fund"},{"name":"Shenzhen Science and Technology Program"},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteogenesis imperfecta (OI) type V is typically characterized by radial head dislocation, calcification of interosseous membrane, and hyperplastic callus. It is caused by the c.-14C&amp;gt;T mutation in the 5\u2032 UTR of IFITM5 gene, adding 5 amino acids (MALEP) to the N-terminal of IFITM5 protein. Previous studies have suggested a neomorphic function of the MALEP-IFITM5 protein. However, the underlying mechanisms remain unclear due to embryonic lethality in previous mouse models. Therefore, we developed an inducible mouse model (Ifitm5flox c.-14C&amp;gt;T) that could be induced by Cre expressed at different developmental stages to explore the pathogenic effects of the neomorphic MALEP-IFITM5. The mutant Ifitm5 allele could be regulated by the endogenous regulatory elements after Cre recombination, maintaining its spatiotemporal expression pattern and physiological level. Specifically, Prx1-Cre; Ifitm5flox c.-14C&amp;gt;T mutant mice were born with fractures in all limbs, showing impaired ossification and enhanced chondrogenesis associated with increased SOX9 abundance. Analyses of single-cell RNA sequencing data revealed arrested osteogenesis in Prx1-Cre; Ifitm5flox c.-14C&amp;gt;T mouse. A major population of cells expressing both osteogenic and chondrogenic signature genes was identified in the mutant mouse. Reduced expression of SP7 and SOST in the cortical regions of mutant mice confirmed delayed osteocyte maturation and compromised osteogenesis. Elevated bone marrow adipocytes were found in the adult mutant mice. Ectopic chondrogenesis and SOX9 expression were also observed in the perichondrium regions of Col1a1-Cre; Ifitm5flox c.-14C&amp;gt;T and Ocn-Cre; Ifitm5flox c.-14C&amp;gt;T mutant mice. The inducible Ifitm5flox c.-14C&amp;gt;T mouse model and integrated single-cell transcriptomic analyses elucidated that ectopic expression of SOX9 and disrupted homeostatic balance among osteogenesis, chondrogenesis, and adipogenesis may contribute to the pathogenesis caused by MALEP-IFITM5, helping to gain deeper insights into the molecular mechanisms of type V OI.<\/jats:p>","DOI":"10.1093\/jbmr\/zjaf022","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T12:16:08Z","timestamp":1738671368000},"page":"577-590","source":"Crossref","is-referenced-by-count":6,"title":["An inducible mouse model of osteogenesis imperfecta type V reveals aberrant osteogenesis caused by <i>Ifitm5<\/i> c.-14C&amp;gt;T mutation"],"prefix":"10.1093","volume":"40","author":[{"given":"Zhijia","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiu Tung","family":"Shek","sequence":"additional","affiliation":[{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeluan","family":"Li","sequence":"additional","affiliation":[{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linjian","family":"Xia","sequence":"additional","affiliation":[{"name":"Clinical, Translational and Basic Research Laboratory, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanni","family":"He","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peikai","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janus Siu Him","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6853-0591","authenticated-orcid":false,"given":"Michael Kai Tsun","family":"To","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Shenzhen Clinical Research Centre for Rare Diseases, The University of Hong Kong-Shenzhen Hospital , Shenzhen 518053 ,","place":["China"]},{"name":"Department of Orthopaedics and Traumatology, Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,2,5]]},"reference":[{"key":"2025052505472562500_ref1","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/bs.ctdb.2018.11.010","article-title":"Wnt-signaling in skeletal development","volume":"133","author":"Teufel","year":"2019","journal-title":"Curr Top Dev Biol"},{"key":"2025052505472562500_ref2","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.matbio.2016.01.008","article-title":"The cartilage extracellular matrix as a transient developmental scaffold for growth plate maturation","volume":"52-54","author":"Melrose","year":"2016","journal-title":"Matrix Biol"},{"issue":"10028","key":"2025052505472562500_ref3","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"issue":"1","key":"2025052505472562500_ref4","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"4","key":"2025052505472562500_ref5","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1136\/jmedgenet-2017-104999","article-title":"FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta","volume":"55","author":"Doyard","year":"2018","journal-title":"J Med Genet"},{"issue":"8","key":"2025052505472562500_ref6","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1002\/jbmr.4011","article-title":"Homozygous loss-of-function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta","volume":"35","author":"Dubail","year":"2020","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2025052505472562500_ref7","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1016\/j.ajhg.2019.08.008","article-title":"Autosomal-recessive mutations in MESD cause osteogenesis imperfecta","volume":"105","author":"Moosa","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"9","key":"2025052505472562500_ref8","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1359\/jbmr.2000.15.9.1650","article-title":"Type V osteogenesis imperfecta: a new form of brittle bone disease","volume":"15","author":"Glorieux","year":"2000","journal-title":"J Bone Miner Res"},{"issue":"7","key":"2025052505472562500_ref9","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1002\/jbmr.1891","article-title":"Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation","volume":"28","author":"Shapiro","year":"2013","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2025052505472562500_ref10","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1159\/000439506","article-title":"Clinical and molecular characterization of osteogenesis imperfecta type V","volume":"6","author":"Brizola","year":"2015","journal-title":"Mol Syndromol"},{"issue":"2","key":"2025052505472562500_ref11","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/j.ajhg.2012.06.005","article-title":"A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V","volume":"91","author":"Cho","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2025052505472562500_ref12","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.ajhg.2012.06.011","article-title":"A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus","volume":"91","author":"Semler","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"9","key":"2025052505472562500_ref13","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1359\/jbmr.080412","article-title":"Bril: a novel bone-specific modulator of mineralization","volume":"23","author":"Moffatt","year":"2008","journal-title":"J Bone Miner Res"},{"issue":"3","key":"2025052505472562500_ref14","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1007\/s00774-010-0221-0","article-title":"Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice","volume":"29","author":"Hanagata","year":"2011","journal-title":"J Bone Miner Metab"},{"issue":"9","key":"2025052505472562500_ref15","doi-asserted-by":"publisher","first-page":"e0184568","DOI":"10.1371\/journal.pone.0184568","article-title":"The osteogenic cell surface marker BRIL\/IFITM5 is dispensable for bone development and homeostasis in mice","volume":"12","author":"Patoine","year":"2017","journal-title":"PLoS One"},{"issue":"3","key":"2025052505472562500_ref16","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1002\/jbmr.2363","article-title":"A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation","volume":"30","author":"Lietman","year":"2015","journal-title":"J Bone Miner Res"},{"key":"2025052505472562500_ref17","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.bone.2017.11.013","article-title":"Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice","volume":"107","author":"Rauch","year":"2018","journal-title":"Bone"},{"issue":"1","key":"2025052505472562500_ref18","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-78403-1","article-title":"Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C&gt;T mutation","volume":"10","author":"Hanagata","year":"2020","journal-title":"Sci Rep"},{"issue":"15","key":"2025052505472562500_ref19","doi-asserted-by":"publisher","DOI":"10.1172\/JCI170369","article-title":"The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK\/SOX9-dependent osteoprogenitor differentiation defect","volume":"134","author":"Marom","year":"2024","journal-title":"J Clin Invest"},{"key":"2025052505472562500_ref20","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.82142","article-title":"MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signaling intensity for proper bone anabolism","volume":"12","author":"Chu","year":"2023","journal-title":"eLife"},{"issue":"2","key":"2025052505472562500_ref21","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1002\/gene.10092","article-title":"Expression of Cre recombinase in the developing mouse limb bud driven by a Prxl enhancer","volume":"33","author":"Logan","year":"2002","journal-title":"Genesis"},{"issue":"6937","key":"2025052505472562500_ref22","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1038\/nature01657","article-title":"Developmental regulation of the growth plate","volume":"423","author":"Kronenberg","year":"2003","journal-title":"Nature"},{"key":"2025052505472562500_ref23","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/bs.ctdb.2019.01.007","article-title":"Roles and regulation of SOX transcription factors in skeletogenesis","volume":"133","author":"Lefebvre","year":"2019","journal-title":"Curr Top Dev Biol"},{"issue":"11","key":"2025052505472562500_ref24","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22115445","article-title":"Regulation and role of transcription factors in osteogenesis","volume":"22","author":"Chan","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"2","key":"2025052505472562500_ref25","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1007\/s00198-022-06581-x","article-title":"Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue","volume":"34","author":"Tan","year":"2023","journal-title":"Osteoporos Int"},{"issue":"33","key":"2025052505472562500_ref26","doi-asserted-by":"publisher","first-page":"12097","DOI":"10.1073\/pnas.1302703111","article-title":"Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation","volume":"111","author":"Yang","year":"2014","journal-title":"Proc Natl Acad Sci USA"},{"issue":"12","key":"2025052505472562500_ref27","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004820","article-title":"Chondrocytes transdifferentiate into osteoblasts in endochondral bone during development, postnatal growth and fracture healing in mice","volume":"10","author":"Zhou","year":"2014","journal-title":"PLoS Genet"},{"issue":"7","key":"2025052505472562500_ref28","doi-asserted-by":"publisher","first-page":"109542","DOI":"10.1016\/j.celrep.2021.109542","article-title":"Gli1(+) progenitors mediate bone anabolic function of teriparatide via Hh and Igf signaling","volume":"36","author":"Shi","year":"2021","journal-title":"Cell Rep"},{"issue":"6","key":"2025052505472562500_ref29","doi-asserted-by":"publisher","first-page":"114342","DOI":"10.1016\/j.celrep.2024.114342","article-title":"Progenitor-like cells contributing to cellular heterogeneity in the nucleus pulposus are lost in intervertebral disc degeneration","volume":"43","author":"Tan","year":"2024","journal-title":"Cell Rep"},{"issue":"7","key":"2025052505472562500_ref30","doi-asserted-by":"publisher","first-page":"1534","DOI":"10.1172\/JCI119316","article-title":"Enhanced cleavage of type II collagen by collagenases in osteoarthritic articular cartilage","volume":"99","author":"Billinghurst","year":"1997","journal-title":"J Clin Invest"},{"issue":"1-2","key":"2025052505472562500_ref31","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/0014-5793(95)01539-6","article-title":"Degradation of cartilage aggrecan by collagenase-3 (MMP-13)","volume":"380","author":"Fosang","year":"1996","journal-title":"FEBS Lett"},{"issue":"42","key":"2025052505472562500_ref32","doi-asserted-by":"publisher","first-page":"33038","DOI":"10.1074\/jbc.275.42.33038","article-title":"Mutations in the interglobular domain of aggrecan alter matrix metalloproteinase and aggrecanase cleavage patterns. Evidence that matrix metalloproteinase cleavage interferes with aggrecanase activity","volume":"275","author":"Mercuri","year":"2000","journal-title":"J Biol Chem"},{"issue":"3","key":"2025052505472562500_ref33","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1172\/JCI118475","article-title":"Cloning, expression, and type II collagenolytic activity of matrix metalloproteinase-13 from human osteoarthritic cartilage","volume":"97","author":"Mitchell","year":"1996","journal-title":"J Clin Invest"},{"issue":"3","key":"2025052505472562500_ref34","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1016\/S0092-8674(00)81169-1","article-title":"MMP-9\/gelatinase B is a key regulator of growth plate angiogenesis and apoptosis of hypertrophic chondrocytes","volume":"93","author":"Vu","year":"1998","journal-title":"Cell"},{"issue":"1","key":"2025052505472562500_ref35","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S0092-8674(01)00622-5","article-title":"The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation","volume":"108","author":"Nakashima","year":"2002","journal-title":"Cell"},{"issue":"23","key":"2025052505472562500_ref36","doi-asserted-by":"publisher","first-page":"5883","DOI":"10.1242\/dev.01461","article-title":"Altered endochondral bone development in matrix metalloproteinase 13-deficient mice","volume":"131","author":"Stickens","year":"2004","journal-title":"Development"},{"issue":"10","key":"2025052505472562500_ref37","doi-asserted-by":"publisher","first-page":"108052","DOI":"10.1016\/j.celrep.2020.108052","article-title":"Local production of osteoprotegerin by osteoblasts suppresses bone resorption","volume":"32","author":"Cawley","year":"2020","journal-title":"Cell Rep"},{"issue":"7","key":"2025052505472562500_ref38","doi-asserted-by":"publisher","first-page":"1128","DOI":"10.1038\/cdd.2015.168","article-title":"Fate decision of mesenchymal stem cells: adipocytes or osteoblasts?","volume":"23","author":"Chen","year":"2016","journal-title":"Cell Death Differ"},{"issue":"9","key":"2025052505472562500_ref39","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1007\/s00018-019-03017-4","article-title":"Determinants of stem cell lineage differentiation toward chondrogenesis versus adipogenesis","volume":"76","author":"Zhou","year":"2019","journal-title":"Cell Mol Life Sci"},{"issue":"757","key":"2025052505472562500_ref40","doi-asserted-by":"publisher","first-page":"eabn9009","DOI":"10.1126\/scisignal.abn9009","article-title":"Yap and Taz promote osteogenesis and prevent chondrogenesis in neural crest cells in vitro and in vivo","volume":"15","author":"Zhao","year":"2022","journal-title":"Sci Signal"},{"issue":"5","key":"2025052505472562500_ref41","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1016\/j.devcel.2005.03.016","article-title":"Wnt\/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis","volume":"8","author":"Day","year":"2005","journal-title":"Dev Cell"},{"issue":"8","key":"2025052505472562500_ref42","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1038\/nrrheum.2009.137","article-title":"Wnt and PPARgamma signaling in osteoblastogenesis and adipogenesis","volume":"5","author":"Takada","year":"2009","journal-title":"Nat Rev Rheumatol"},{"issue":"1","key":"2025052505472562500_ref43","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/s41413-018-0013-z","article-title":"SHP2 regulates skeletal cell fate by modifying SOX9 expression and transcriptional activity","volume":"6","author":"Zuo","year":"2018","journal-title":"Bone Res"},{"issue":"9","key":"2025052505472562500_ref44","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1101\/gad.1171104","article-title":"Interactions between Sox9 and beta-catenin control chondrocyte differentiation","volume":"18","author":"Akiyama","year":"2004","journal-title":"Genes Dev"},{"issue":"sup1","key":"2025052505472562500_ref45","doi-asserted-by":"publisher","first-page":"83","DOI":"10.3109\/03008207.2014.923872","article-title":"Sp7 and Runx2 molecular complex synergistically regulate expression of target genes","volume":"55","author":"Rashid","year":"2014","journal-title":"Connect Tissue Res"},{"issue":"6","key":"2025052505472562500_ref46","doi-asserted-by":"publisher","first-page":"1402","DOI":"10.1002\/jbmr.2173","article-title":"A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor","volume":"29","author":"Farber","year":"2014","journal-title":"J Bone Miner Res"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjaf022\/61770704\/zjaf022.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjaf022\/61770704\/zjaf022.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjaf022\/61770704\/zjaf022.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T09:47:34Z","timestamp":1748166454000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/40\/5\/577\/8002760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,5]]},"references-count":46,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,2,5]]},"published-print":{"date-parts":[[2025,5,24]]}},"URL":"https:\/\/doi.org\/10.1093\/jbmr\/zjaf022","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,5]]},"published":{"date-parts":[[2025,2,5]]}}}