ReviewCalcified tissue international2024
A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.
Review in Calcified tissue international, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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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
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.Calcified tissue international · 2024Pooled it
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 2026Review
- Skin symptoms and their impact on quality-of-life in adults with osteogenesis imperfecta.Journal of the Endocrine Society · 2026Article
- Comment on "Characterization of individuals with skeletal dysplasia at a referral center in Brazil".Journal of community genetics · 2026Article
- Atypical Femoral Fractures in Adult Patients with Classical Osteogenesis Imperfecta.Calcified tissue international · 2026Article
- What's New in Osteogenesis Imperfecta.Journal of the Pediatric Orthopaedic Society of North America · 2026Review
- New lens on congenital mild bone fragility: a novel Col1a1 knockout mouse model for osteogenesis imperfecta type 1.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.Journal of endocrinological investigation · 2026Article
- A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.International journal of molecular sciences · 2026Review
- Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone.Frontiers in endocrinology · 2026Article
- Use of Analgesics in Osteogenesis Imperfecta in Denmark-A Nationwide Register-based Cohort Study.Calcified tissue international · 2025Article
- Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.Iranian biomedical journal · 2025Article
- Serum Osteocalcin in Pediatric Osteogenesis Imperfecta: Impact of Disease Type and Bisphosphonate Therapy.International journal of molecular sciences · 2025Article
- Six at Sixty. Commentary on osteogenesis imperfecta 1975-2025.Journal of medical genetics · 2025Article
- Maternal Health and Safety Outcomes of Prenatal Myostatin Inhibition in Osteogenesis Imperfecta Mice.Endocrinology · 2025Article
- Management of a Patient with Severe Osteogenesis Imperfecta Undergoing Laparoscopic Cholecystectomy.Calcified tissue international · 2025Article
- Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations.Human gene therapy · 2025Review
- 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
- Osteogenesis Imperfecta from Bench to Bedside and from Cradle to Grave.Calcified tissue international · 2024Article
- Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 2023 following extensive consultation with key stakeholders, the expert Nosology Working Group of the International Skeletal Dysplasia Society (ISDS) published the new Dyadic Nosology for Genetic Disorders of the Skeleton. Some 770 entities were delineated associated with 552 genes. From these entities, over 40 genes resulting in distinct forms of Osteogenesis Imperfecta (OI) and Bone Fragility and/or Familial Osteoporosis were identified. To assist clinicians and lay stake holders and bring the considerable body of knowledge of the matrix biology and genomics to people with OI as well as to clinicians and scientists, a dyadic nosology has been recommended. This combines a genomic co-descriptor with a phenotypic naming based on the widely used Sillence nosology for the OI syndromes and the many other syndromes characterized in part by bone fragility.This review recapitulates and explains the evolution from the simple Congenita and Tarda subclassification of OI in the 1970 nosology, which was replaced by the Sillence types I-IV nosology which was again replaced in 2009 with 5 clinical groups, type 1 to 5. Qualitative and quantitative defects in type I collagen polypeptides were postulated to account for the genetic heterogeneity in OI for nearly 30 years, when OI type 5, a non-collagen disorder was recognized. Advances in matrix biology and genomics since that time have confirmed a surprising complexity both in transcriptional as well as post-translational mechanisms of collagens as well as in the many mechanisms of calcified tissue homeostasis and integrity.
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