{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T07:22:07Z","timestamp":1781594527153,"version":"3.54.5"},"reference-count":41,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"R\u00e9seau de recherche en sant\u00e9 buccodentaire et osseuse","award":["67070"],"award-info":[{"award-number":["67070"]}]},{"name":"Consortium qu\u00e9b\u00e9cois sur la d\u00e9couverte du m\u00e9dicament","award":["A456-09"],"award-info":[{"award-number":["A456-09"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Osteogenesis imperfecta (OI) is a bone fragility disorder that is usually caused by mutations affecting collagen type I. We compared the calvaria bone tissue transcriptome of male 10-week-old heterozygous Jrt (Col1a1 mutation) and homozygous oim mice (Col1a2 mutation) to their respective littermate results. We found that Jrt and oim mice shared 185 differentially expressed genes (upregulated: 106 genes; downregulated: 79 genes). A total of seven genes were upregulated by a factor of two or more in both mouse models (Cyp2e1, Slc13a5, Cgref1, Smpd3, Ifitm5, Cthrc1 and Rerg). One gene (Gypa, coding for a blood group antigen) was downregulated by a factor of two or more in both OI mouse models. Overrepresentation analyses revealed that genes involved in \u2018ossification\u2019 were significantly overrepresented among upregulated genes in both Jrt and oim mice, whereas hematopoietic genes were downregulated. Several genes involved in Wnt signaling and transforming growth factor beta signaling were upregulated in oim mice, but less so in Jrt mice. Thus, this study identified a set of genes that are dysregulated across various OI mouse models and are likely to play an important role in the pathophysiology of this disorder.<\/jats:p>","DOI":"10.3390\/ijms22105290","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T06:01:33Z","timestamp":1621317693000},"page":"5290","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Calvaria Bone Transcriptome in Mouse Models of Osteogenesis Imperfecta"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5793-1944","authenticated-orcid":false,"given":"Pierre","family":"Moffatt","sequence":"first","affiliation":[{"name":"Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada"},{"name":"Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Boraschi-Diaz","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Marulanda","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghalib","family":"Bardai","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,18]]},"reference":[{"key":"ref_1","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":"ref_2","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. 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