{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Stasek S"],"funding":["DFG"],"pagination":["ziaf083"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12202044"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(7)"],"pubmed_abstract":["OI is a genetically diverse disorder characterized by bone fragility and deformities, with most cases attributed to dominant mutations in collagen I-related genes. However, mutations in <i>TENT5A</i>, encoding a poly(A) polymerase, have recently been implicated in severe, recessive forms of OI. We reported 3 individuals from a consanguineous family with a novel homozygous <i>TENT5A</i> variant (c.672G>T, p.Arg224Ser). Our patients presented with severe bone fragility, generalized osteopenia, skeletal deformities, short stature, and early wheelchair dependence. Patient-derived fibroblasts demonstrated impaired collagen secretion and disorganized fibril network formation. Our findings provide new insights into the complex pathophysiology of <i>TENT5A</i>-associated OI and underscore the need"],"journal":["JBMR plus"],"pubmed_title":["TENT5A-associated osteogenesis imperfecta: long-term follow-up and molecular insights."],"pmcid":["PMC12202044"],"funding_grant_id":["ZA 561/3-2407168728","ET144/3-2 - 384170921","384170921","SE2373/1-2"],"pubmed_authors":["Stasek S","Reincke S","Rehberg M","Baumann U","Semler O","Zaucke F","Morgelin M","Hoyer-Kuhn H","Stephan A","Etich J"],"additional_accession":[]},"is_claimable":false,"name":"TENT5A-associated osteogenesis imperfecta: long-term follow-up and molecular insights.","description":"OI is a genetically diverse disorder characterized by bone fragility and deformities, with most cases attributed to dominant mutations in collagen I-related genes. However, mutations in <i>TENT5A</i>, encoding a poly(A) polymerase, have recently been implicated in severe, recessive forms of OI. We reported 3 individuals from a consanguineous family with a novel homozygous <i>TENT5A</i> variant (c.672G>T, p.Arg224Ser). Our patients presented with severe bone fragility, generalized osteopenia, skeletal deformities, short stature, and early wheelchair dependence. Patient-derived fibroblasts demonstrated impaired collagen secretion and disorganized fibril network formation. Our findings provide new insights into the complex pathophysiology of <i>TENT5A</i>-associated OI and underscore the need","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-06-02T08:54:27.189Z","creation":"2026-04-16T03:12:49.488Z"},"accession":"S-EPMC12202044","cross_references":{"pubmed":["40575455"],"doi":["10.1093/jbmrpl/ziaf083"]}}