ReviewOrphanet journal of rare diseases2023
Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
Review in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Pooled it
- Osteoporosis in Pediatric Orthopaedics: Congenital Diseases, Medical Management, and Perioperative Considerations.Current osteoporosis reports · 2026Review
- Spatial transcriptomics reveals microenvironmental heterogeneity in osteoarthritic subchondral bone.Nature communications · 2026Article
- Image-guided in vivo evaluation and comparison of bone-targeting peptides for therapeutic intervention.Drug delivery and translational research · 2026Article
- Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets-Like Rib Fractures: A Case Report.Clinical case reports · 2026Article
- Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review.Orphanet journal of rare diseases · 2026Review
- Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center.Northern clinics of Istanbul · 2026Article
- Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- A comprehensive analysis of two types of xenogeneic bone particles for use in maxillofacial bone regeneration therapies.PloS one · 2025Article
- Lung function in adult patients with osteogenesis imperfecta: a cohort study.Orphanet journal of rare diseases · 2024Article
- Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.Orphanet journal of rare diseases · 2024Article
- Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.Orphanet journal of rare diseases · 2024Article
- Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.Advances in rheumatology (London, England) · 2024Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previous classifications lack structure and scientific basis and have poor applicability. In this paper, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms of OI from the perspectives of type I collagen defects(synthesis defects, processing defects, post-translational modification defects, folding and cross-linking defects), bone mineralization disorders, osteoblast differentiation and functional defects respectively, and also generalize several new untyped OI-causing genes and their pathogenic mechanisms, intending to provide the evidence of classification and a scientific basis for the precise diagnosis and treatment of OI.
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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.