Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
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DOI: 10.1002/jbmr.3424
Abstract: Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains… read more here.
Keywords: bone; osteogenesis imperfecta; propeptide cleavage; cleavage site ... See more keywords
Modification of COL1A1 in Autologous Adipose Tissue‐Derived Progenitor Cells Rescues the Bone Phenotype in a Mouse Model of Osteogenesis Imperfecta
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DOI: 10.1002/jbmr.4326
Abstract: Osteogenesis imperfecta (OI) is a congenital genetic disorder mainly manifested as bone fragility and recurrent fracture. Mutation of COL1A1/COL1A2 genes encoding the type I collagen are most responsible for the clinical patients. Allogenic mesenchymal stem… read more here.
Keywords: adscs; col1a1; bone; osteogenesis imperfecta ... See more keywords
4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta
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DOI: 10.1002/jbmr.4501
Abstract: Osteogenesis imperfecta (OI) is a genetically heterogenous disorder most often due to heterozygosity for mutations in the type I procollagen genes, COL1A1 or COL1A2. The disorder is characterized by bone fragility leading to increased fracture… read more here.
Keywords: aga2; bone; pba treatment; treatment ... See more keywords
Dysfunction of Caveolae‐Mediated Endocytic TβRI Degradation Results in Hypersensitivity of TGF‐β/Smad Signaling in Osteogenesis Imperfecta
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DOI: 10.1002/jbmr.4734
Abstract: Osteogenesis imperfecta (OI) is a genetic disorder caused by mutations of type I collagen‐related genes, and excessive transforming growth factor‐beta (TGF‐β) signaling is a common mechanism. TGF‐β/Smad signaling has inhibitory effects on osteoblast differentiation and… read more here.
Keywords: smad signaling; caveolae mediated; tgf smad; degradation ... See more keywords
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
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DOI: 10.1002/mgg3.1996
Abstract: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype… read more here.
Keywords: glycine tryptophan; col1a1 gene; osteogenesis imperfecta;
Ribcage deformity and the altered breathing pattern in children with osteogenesis imperfecta
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DOI: 10.1002/ppul.24039
Abstract: Osteogenesis Imperfecta (OI) is a genetic disease characterized by bones fragility and progressive deformity. Life expectancy is reduced in the non‐lethal most severe type III form before the age of 10 years. The main cause… read more here.
Keywords: ribcage deformity; breathing pattern; osteogenesis imperfecta; altered breathing ... See more keywords
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta
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DOI: 10.1007/s00198-017-4031-2
Abstract: SummaryIn 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes.IntroductionIn children who… read more here.
Keywords: diagnosis; diagnosis children; osteogenesis imperfecta; molecular diagnosis ... See more keywords
Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series
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DOI: 10.1007/s00198-018-4769-1
Abstract: Atypical femoral fractures (AFFs) are low-energy femoral fractures with characteristic radiological features and a suspected relation to treatment with bisphosphonate (BP) or denosumab. In osteogenesis imperfecta (OI), BP is currently the drug of choice when… read more here.
Keywords: femoral fractures; treatment; bone; osteogenesis imperfecta ... See more keywords
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
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DOI: 10.1007/s00223-018-0414-4
Abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I… read more here.
Keywords: novel homozygous; col1a2; caused novel; osteogenesis imperfecta ... See more keywords
Abnormalities in Tooth Formation after Early Bisphosphonate Treatment in Children with Osteogenesis Imperfecta
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DOI: 10.1007/s00223-021-00835-2
Abstract: Treatment with intravenous bisphosphonate (BP) in children and adolescents with osteogenesis imperfecta (OI) started in Sweden in 1991. No human studies on the role of BP therapy in development of disturbances in tooth mineralization or… read more here.
Keywords: age; treatment; group; formation ... See more keywords
High-resolution peripheral quantitative computed tomography in children with osteogenesis imperfecta
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DOI: 10.1007/s00247-020-04736-8
Abstract: Bone health in children with osteogenesis imperfecta is monitored using radiographs and dual-energy X-ray absorptiometry, which have limitations. High-resolution peripheral quantitative CT can non-invasively derive bone microarchitectural data. Children with severe osteogenesis imperfecta have fragile… read more here.
Keywords: peripheral quantitative; osteogenesis imperfecta; high resolution; resolution peripheral ... See more keywords