ArticleDisease models & mechanisms2022
Dissecting the phenotypic variability of osteogenesis imperfecta.
Article in Disease models & mechanisms, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
42 citing papers in PubMed, 52 citations in OpenAlex.
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 2026Review
- Phenotypic Variability and Diagnostic Characteristics of Pediatric Osteogenesis Imperfecta: A 10-Year Multicenter Cohort Study from Three Tertiary Pediatric Hospitals in Bucharest, Romania.Diagnostics (Basel, Switzerland) · 2026Article
- Video-based gait analysis for clinical monitoring of genotype-specific functional patterns in osteogenesis imperfecta.BMC musculoskeletal disorders · 2026Article
- Preserved bone mineral density in autosomal dominant SP7-related osteogenesis imperfecta: a case report of the p.Glu340Ala variant.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- Clinical and Genetic Characterization of Osteogenesis Imperfecta in Japanese Patients: Outcomes of Sequential Bisphosphonate Therapy.Calcified tissue international · 2026Article
- OMICS Profiling Identifies Signatures of Senescence in Osteogenesis Imperfecta Osteoblasts Counteracted by 4-PBA.Journal of cellular and molecular medicine · 2026Article
- A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.International journal of molecular sciences · 2026Review
- 21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfecta.Frontiers in genetics · 2026Article
- Type III Osteogenesis Imperfecta andHuman mutation · 2026Article
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- The Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models.International journal of molecular sciences · 2025Article
- Osteogenesis Imperfecta: A Look into the Cerebellum of the Brtl Murine Model.Molecular neurobiology · 2025Article
- Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.Iranian biomedical journal · 2025Article
- Osteogenesis Imperfecta or Non-accidental Trauma? The Diagnostic Dilemma in Pediatric Fractures.Journal of the Pediatric Orthopaedic Society of North America · 2025Article
- Real-world data of fracture rates and musculoskeletal disorders for patients living with osteogenesis imperfecta.JBMR plus · 2025Article
- Nanoscale Structural and Functional Impacts of Disease-Associated Collagen Mutations.bioRxiv : the preprint server for biology · 2025Article
- Review
- Osteogenesis imperfecta: pathogenesis, classification, and treatment.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Review
- Review
- Six at Sixty. Commentary on osteogenesis imperfecta 1975-2025.Journal of medical genetics · 2025Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the α1(I) and α2(I) collagen chains. Mutant collagen is partially retained intracellularly, impairing cell homeostasis. Upon secretion, it assembles in disorganized fibrils, altering mineralization. OI is characterized by a wide range of clinical outcomes, even in the presence of identical sequence variants. Given the heterotrimeric nature of collagen I, its amino acid composition and the peculiarity of its folding, several causes may underlie the phenotypic variability of OI. A deep analysis of entries regarding glycine and splice site collagen substitution of the largest publicly available patient database reveals a higher risk of lethal phenotype for carriers of variants in α1(I) than in α2(I) chain. However, splice site variants are predominantly associated with lethal phenotype when they occur in COL1A2. In addition, lethality is increased when mutations occur in regions of importance for extracellular matrix interactions. Both extracellular and intracellular determinants of OI clinical severity are discussed in light of the findings from in vitro and in vivo OI models. Combined with meticulous tracking of clinical cases via a publicly available database, the available OI animal models have proven to be a unique tool to shed light on new modulators of phenotype determination for this rare heterogeneous disease.
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