{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T01:48:36Z","timestamp":1774316916329,"version":"3.50.1"},"reference-count":52,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100012013","name":"R\u00e9seau de Recherche en Sant\u00e9 Buccodentaire et Osseuse","doi-asserted-by":"publisher","award":["67070"],"award-info":[{"award-number":["67070"]}],"id":[{"id":"10.13039\/100012013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012013","name":"R\u00e9seau de Recherche en Sant\u00e9 Buccodentaire et Osseuse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.bone.2021.115940","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T14:39:19Z","timestamp":1617201559000},"page":"115940","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Muscle transcriptome in mouse models of osteogenesis imperfecta"],"prefix":"10.1016","volume":"148","author":[{"given":"Pierre","family":"Moffatt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Boraschi-Diaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghalib","family":"Bardai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2021.115940_bb0005","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet."},{"key":"10.1016\/j.bone.2021.115940_bb0010","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1007\/s00198-016-3709-1","article-title":"DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum","volume":"27","author":"Bardai","year":"2016","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.bone.2021.115940_bb0015","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and classification of genetic skeletal disorders: 2019 revision","volume":"179","author":"Mortier","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bone.2021.115940_bb0020","doi-asserted-by":"crossref","first-page":"E356","DOI":"10.1210\/jc.2013-3209","article-title":"Muscle anatomy and dynamic muscle function in osteogenesis imperfecta type I","volume":"99","author":"Veilleux","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2021.115940_bb0025","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.bone.2015.05.019","article-title":"The functional muscle-bone unit in patients with osteogenesis imperfecta type I","volume":"79","author":"Veilleux","year":"2015","journal-title":"Bone."},{"key":"10.1016\/j.bone.2021.115940_bb0030","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/s00223-017-0287-y","article-title":"Muscle function in osteogenesis imperfecta type IV","volume":"101","author":"Veilleux","year":"2017","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2021.115940_bb0035","first-page":"171","article-title":"Physical activity in youth with osteogenesis imperfecta type I","volume":"15","author":"Pouliot-Laforte","year":"2015","journal-title":"J. Musculoskelet. Neuronal Interact."},{"key":"10.1016\/j.bone.2021.115940_bb0040","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jpeds.2015.10.058","article-title":"Body composition in children and adolescents with osteogenesis imperfecta","volume":"169","author":"Palomo","year":"2016","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bone.2021.115940_bb0045","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1016\/j.matbio.2010.06.006","article-title":"Skeletal muscle weakness in osteogenesis imperfecta mice","volume":"29","author":"Gentry","year":"2010","journal-title":"Matrix Biol."},{"key":"10.1016\/j.bone.2021.115940_bb0050","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1002\/jbmr.3732","article-title":"Compromised exercise capacity and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) mouse model","volume":"34","author":"Gremminger","year":"2019","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2021.115940_bb0055","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.ymgme.2021.02.004","article-title":"Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim\/oim) of severe osteogenesis imperfecta","volume":"132","author":"Gremminger","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bone.2021.115940_bb0060","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1038\/pr.2018.36","article-title":"Liang F, Traboulsi H, Rico de Souza A, Giordano C, Tauer JT, Rauch F, Petrof BJ. Pulmonary and diaphragmatic pathology in collagen type I alpha1 mutant mice with osteogenesis imperfecta","volume":"83","author":"Baglole","year":"2018","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bone.2021.115940_bb0065","doi-asserted-by":"crossref","first-page":"115036","DOI":"10.1016\/j.bone.2019.115036","article-title":"Novel ActRIIB ligand trap increases muscle mass and improves bone geometry in a mouse model of severe osteogenesis imperfecta","volume":"128","author":"Tauer","year":"2019","journal-title":"Bone."},{"key":"10.1016\/j.bone.2021.115940_bb0070","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1073\/pnas.90.5.1701","article-title":"Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta","volume":"90","author":"Chipman","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bone.2021.115940_bb0075","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1002\/jbmr.2177","article-title":"First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome","volume":"29","author":"Chen","year":"2014","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2021.115940_bb0080","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.bonr.2018.06.008","article-title":"Loss of RANKL in osteocytes dramatically increases cancellous bone mass in the osteogenesis imperfecta mouse (oim)","volume":"9","author":"Zimmerman","year":"2018","journal-title":"Bone Rep."},{"key":"10.1016\/j.bone.2021.115940_bb0085","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics."},{"key":"10.1016\/j.bone.2021.115940_bb0090","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/nbt.2450","article-title":"Differential analysis of gene regulation at transcript resolution with RNA-seq","volume":"31","author":"Trapnell","year":"2013","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.bone.2021.115940_bb0095","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq\u2014a Python framework to work with high-throughput sequencing data","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics."},{"key":"10.1016\/j.bone.2021.115940_bb0100","doi-asserted-by":"crossref","first-page":"R106","DOI":"10.1186\/gb-2010-11-10-r106","article-title":"Differential expression analysis for sequence count data","volume":"11","author":"Anders","year":"2010","journal-title":"Genome Biol."},{"key":"10.1016\/j.bone.2021.115940_bb0105","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1093\/bioinformatics\/bts196","article-title":"RNA-SeQC: RNA-seq metrics for quality control and process optimization","volume":"28","author":"DeLuca","year":"2012","journal-title":"Bioinformatics."},{"key":"10.1016\/j.bone.2021.115940_bb0110","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bone.2021.115940_bb0115","doi-asserted-by":"crossref","first-page":"W741","DOI":"10.1093\/nar\/gki475","article-title":"WebGestalt: an integrated system for exploring gene sets in various biological contexts","volume":"33","author":"Zhang","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bone.2021.115940_bb0120","doi-asserted-by":"crossref","first-page":"W199","DOI":"10.1093\/nar\/gkz401","article-title":"WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs","volume":"47","author":"Liao","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bone.2021.115940_bb0125","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/s41598-019-57110-6","article-title":"Single-cell transcriptional profiles in human skeletal muscle","volume":"10","author":"Rubenstein","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bone.2021.115940_bb0130","doi-asserted-by":"crossref","DOI":"10.14440\/jbm.2020.307","article-title":"An optimized procedure for isolation of rodent and human skeletal muscle sarcoplasmic and myofibrillar proteins","volume":"7","author":"Roberts","year":"2020","journal-title":"J. Biol. Methods"},{"key":"10.1016\/j.bone.2021.115940_bb0135","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1161\/ATVBAHA.117.309574","article-title":"ABCA8 regulates cholesterol efflux and high-density lipoprotein cholesterol levels","volume":"37","author":"Trigueros-Motos","year":"2017","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.bone.2021.115940_bb0140","doi-asserted-by":"crossref","first-page":"262","DOI":"10.3389\/fphys.2019.00262","article-title":"Genes whose gain or loss-of-function increases endurance performance in mice: a systematic literature review","volume":"10","author":"Yaghoob Nezhad","year":"2019","journal-title":"Front. Physiol."},{"key":"10.1016\/j.bone.2021.115940_bb0145","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1210\/me.2011-1274","article-title":"The nuclear receptor, Nor-1, markedly increases type II oxidative muscle fibers and resistance to fatigue","volume":"26","author":"Pearen","year":"2012","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.bone.2021.115940_bb0150","doi-asserted-by":"crossref","unstructured":"Sopariwala DH, Pant M, Shaikh SA, Goonasekera SA, Molkentin JD, Weisleder N, Ma J, Pan Z, Periasamy M. Sarcolipin overexpression improves muscle energetics and reduces fatigue. J Appl Physiol (1985). 2015;118:1050\u20138.","DOI":"10.1152\/japplphysiol.01066.2014"},{"key":"10.1016\/j.bone.2021.115940_bb0155","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1152\/physrev.00031.2010","article-title":"Fiber types in mammalian skeletal muscles","volume":"91","author":"Schiaffino","year":"2011","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bone.2021.115940_bb0160","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1126\/science.aad4076","article-title":"A peptide encoded by a transcript annotated as long noncoding RNA enhances SERCA activity in muscle","volume":"351","author":"Nelson","year":"2016","journal-title":"Science."},{"key":"10.1016\/j.bone.2021.115940_bb0165","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1038\/ng.244","article-title":"Tbc1d1 mutation in lean mouse strain confers leanness and protects from diet-induced obesity","volume":"40","author":"Chadt","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2021.115940_bb0170","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/978-3-319-09614-8_4","article-title":"Alcohol and cancer: an overview with special emphasis on the role of acetaldehyde and cytochrome P450 2E1","volume":"815","author":"Seitz","year":"2015","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.bone.2021.115940_bb0175","doi-asserted-by":"crossref","DOI":"10.3390\/nu10101383","article-title":"Regulation and metabolic significance of de novo lipogenesis in adipose tissues","volume":"10","author":"Song","year":"2018","journal-title":"Nutrients."},{"key":"10.1016\/j.bone.2021.115940_bb0180","doi-asserted-by":"crossref","first-page":"371","DOI":"10.3233\/JND-150119","article-title":"Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism","volume":"2","author":"Moyer","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.bone.2021.115940_bb0185","doi-asserted-by":"crossref","first-page":"5012","DOI":"10.1096\/fj.201701264R","article-title":"Zmynd17 controls muscle mitochondrial quality and whole-body metabolism","volume":"32","author":"Fujita","year":"2018","journal-title":"FASEB J."},{"key":"10.1016\/j.bone.2021.115940_bb0190","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.122247","article-title":"Mss51 deletion enhances muscle metabolism and glucose homeostasis in mice","volume":"4","author":"Rovira Gonzalez","year":"2019","journal-title":"JCI Insight"},{"key":"10.1016\/j.bone.2021.115940_bb0195","series-title":"Zhang A","author":"Omosule","year":"2020"},{"key":"10.1016\/j.bone.2021.115940_bb0200","doi-asserted-by":"crossref","first-page":"253","DOI":"10.3389\/fphys.2020.00253","article-title":"Skeletal muscle extracellular matrix - what do we know about its composition, regulation, and physiological roles? A narrative review","volume":"11","author":"Csapo","year":"2020","journal-title":"Front Physiol."},{"key":"10.1016\/j.bone.2021.115940_bb0205","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10171","article-title":"The osteocyte transcriptome is extensively dysregulated in mouse models of osteogenesis imperfecta","volume":"3","author":"Zimmerman","year":"2019","journal-title":"JBMR Plus."},{"key":"10.1016\/j.bone.2021.115940_bb0210","doi-asserted-by":"crossref","unstructured":"Yurchenco PD, McKee KK, Reinhard JR, Ruegg MA. Laminin-deficient muscular dystrophy: molecular pathogenesis and structural repair strategies. Matrix Biol. 2018;71\u201372:174\u201387.","DOI":"10.1016\/j.matbio.2017.11.009"},{"key":"10.1016\/j.bone.2021.115940_bb0215","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008613","article-title":"Planarian EGF repeat-containing genes megf6 and hemicentin are required to restrict the stem cell compartment","volume":"16","author":"Lindsay-Mosher","year":"2020","journal-title":"PLoS Genet."},{"key":"10.1016\/j.bone.2021.115940_bb0220","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.diff.2016.05.007","article-title":"Skeletal muscle fibroblasts in health and disease","volume":"92","author":"Chapman","year":"2016","journal-title":"Differentiation."},{"key":"10.1016\/j.bone.2021.115940_bb0225","doi-asserted-by":"crossref","first-page":"22","DOI":"10.3389\/fcell.2017.00022","article-title":"Non-myogenic contribution to muscle development and homeostasis: the role of connective tissues","volume":"5","author":"Nassari","year":"2017","journal-title":"Front. Cell. Dev. Biol."},{"key":"10.1016\/j.bone.2021.115940_bb0230","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1002\/mus.22094","article-title":"Structure and function of the skeletal muscle extracellular matrix","volume":"44","author":"Gillies","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bone.2021.115940_bb0235","doi-asserted-by":"crossref","unstructured":"Lamande SR, Bateman JF. Collagen VI disorders: insights on form and function in the extracellular matrix and beyond. Matrix Biol. 2018;71\u201372:348\u201367.","DOI":"10.1016\/j.matbio.2017.12.008"},{"key":"10.1016\/j.bone.2021.115940_bb0240","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1096\/fj.05-5124fje","article-title":"Biglycan regulates the expression and sarcolemmal localization of dystrobrevin, syntrophin, and nNOS","volume":"20","author":"Mercado","year":"2006","journal-title":"FASEB J."},{"key":"10.1016\/j.bone.2021.115940_bb0245","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/ng1270","article-title":"Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency","volume":"35","author":"Irwin","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2021.115940_bb0250","doi-asserted-by":"crossref","first-page":"109056","DOI":"10.1016\/j.cbi.2020.109056","article-title":"Cytochrome P450 2E1 and its roles in disease","volume":"322","author":"Guengerich","year":"2020","journal-title":"Chem. Biol. Interact."},{"key":"10.1016\/j.bone.2021.115940_bb0255","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.freeradbiomed.2014.07.006","article-title":"Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies","volume":"75","author":"Sorato","year":"2014","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.bone.2021.115940_bb0260","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1530\/JOE-17-0335","article-title":"Metabolic phenotype in the mouse model of osteogenesis imperfecta","volume":"234","author":"Boraschi-Diaz","year":"2017","journal-title":"J. Endocrinol."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328221001022?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328221001022?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:41:41Z","timestamp":1762659701000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328221001022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":52,"alternative-id":["S8756328221001022"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2021.115940","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Muscle transcriptome in mouse models of osteogenesis imperfecta","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2021.115940","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"115940"}}