ReviewMolecular and cellular pediatrics2020
Osteogenesis imperfecta-pathophysiology and therapeutic options.
Review in Molecular and cellular pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
45 citing papers in PubMed, 81 citations in OpenAlex.
- Integrated metabolomic and gut microbiota analyses reveal TCA cycle dysfunction in broiler skeletal disorders and the protective effect of L‑malic acid.Journal of animal science and biotechnology · 2026Article
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- Ocular Clues in Musculoskeletal Disorders: A Narrative Review for Orthopaedic Specialists.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2026Review
- 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
- Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.European journal of human genetics : EJHG · 2026Article
- What's New in Osteogenesis Imperfecta.Journal of the Pediatric Orthopaedic Society of North America · 2026Review
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Assessment of Bone Density in Osteogenesis Imperfecta in Pediatric and Adolescent Age Group: Can the Metacarpal Index Play a Role?Indian journal of orthopaedics · 2025Article
- A facile method for fluorescent visualization of newly synthesized fibrous collagen by capturing the allysine aldehyde groups serving as cross-link precursors.bioRxiv : the preprint server for biology · 2025Article
- The administration of exogenous HSP47 as a collagen-specific therapeutic approach.JCI insight · 2025Article
- Improvement of bone properties in children with osteogenesis imperfecta after pamidronate: a bone biopsy study.JBMR plus · 2025Article
- Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta.Disability and rehabilitation · 2025Article
- Comprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta.Orthopedic reviews · 2025Article
- A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Osteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.Intractable & rare diseases research · 2024Article
- Article
- The Role of Mitochondrial Homeostasis in Mesenchymal Stem Cell Therapy-Potential Implications in the Treatment of Osteogenesis Imperfecta.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Qualitative investigation of school experiences in children with osteogenesis imperfecta.Children's health care : journal of the Association for the Care of Children's Health · 2024Article
- Understanding the importance of peak bone mass.Journal of the Pediatric Orthopaedic Society of North America · 2024Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms. Here, we present an overview of the genetic heterogeneity and pathophysiological background of OI as well as OI-related bone fragility disorders and highlight current therapeutic options.The most common form of OI is caused by mutations in the two collagen type I genes. Stop mutations usually lead to reduced collagen amount resulting in a mild phenotype, while missense mutations mainly provoke structural alterations in the collagen protein and entail a more severe phenotype. Numerous other causal genes have been identified during the last decade that are involved in collagen biosynthesis, modification and secretion, the differentiation and function of osteoblasts, and the maintenance of bone homeostasis.Management of patients with OI involves medical treatment by bisphosphonates as the most promising therapy to inhibit bone resorption and thereby facilitate bone formation. Surgical treatment ensures pain reduction and healing without an increase of deformities. Timely remobilization and regular strengthening of the muscles by physiotherapy are crucial to improve mobility, prevent muscle wasting and avoid bone resorption caused by immobilization. Identification of the pathomechanism for SERPINF1 mutations led to the development of a tailored mechanism-based therapy using denosumab, and unraveling further pathomechanisms will likely open new avenues for innovative treatment approaches.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.