{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zieba J"],"funding":["NICHD NIH HHS","NHLBI NIH HHS","National Institutes of Health","Osteogenesis Imperfecta Foundation"],"pagination":["e171984"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10721276"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(21)"],"pubmed_abstract":["Osteogenesis imperfecta (OI), or brittle bone disease, is a disorder characterized by bone fragility and increased fracture incidence. All forms of OI also feature short stature, implying an effect on endochondral ossification. Using the Aga2+/- mouse, which has a mutation in type I collagen, we show an affected growth plate primarily due to a shortened proliferative zone. We used single-cell RNA-Seq analysis of tibial and femoral growth plate tissues to understand transcriptional consequences on growth plate cell types. We show that perichondrial cells, which express abundant type I procollagen, and growth plate chondrocytes, which were found to express low amounts of type I procollagen, had ER stress and dysregulation of the same unfolded protein response pathway as previously demonstrat"],"journal":["JCI insight"],"pubmed_title":["Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth."],"pmcid":["PMC10721276"],"funding_grant_id":["Geisman Fellowship award","P01 HD070394","1R01HL160554","R01 HL160554"],"pubmed_authors":["Wachtell D","Wong S","Krakow D","Kot A","Zieba J","Cohn DH","Martin JH","Nevarez L"],"additional_accession":[]},"is_claimable":false,"name":"Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth.","description":"Osteogenesis imperfecta (OI), or brittle bone disease, is a disorder characterized by bone fragility and increased fracture incidence. All forms of OI also feature short stature, implying an effect on endochondral ossification. Using the Aga2+/- mouse, which has a mutation in type I collagen, we show an affected growth plate primarily due to a shortened proliferative zone. We used single-cell RNA-Seq analysis of tibial and femoral growth plate tissues to understand transcriptional consequences on growth plate cell types. We show that perichondrial cells, which express abundant type I procollagen, and growth plate chondrocytes, which were found to express low amounts of type I procollagen, had ER stress and dysregulation of the same unfolded protein response pathway as previously demonstrat","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2026-05-28T19:10:41.571Z","creation":"2025-04-05T20:12:28.414Z"},"accession":"S-EPMC10721276","cross_references":{"pubmed":["37796615"],"doi":["10.1172/jci.insight.171984"]}}