ReviewCalcified tissue international2024
Update on the Genetics of Osteogenesis Imperfecta.
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 49 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Previously UnreportedInternational journal of molecular sciences · 2025Pooled it
- Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta.Calcified tissue international · 2025Trial
- Urinary calcium and bone resorption markers during 3 years of denosumab treatment in pediatric osteogenesis imperfecta.JBMR plus · 2025Trial
- Osteoporosis in Pediatric Orthopaedics: Congenital Diseases, Medical Management, and Perioperative Considerations.Current osteoporosis reports · 2026Review
- Evaluating dental developmental abnormalities in osteogenesis imperfecta: associations with timing and cumulative exposure to intravenous pamidronate- a pilot study.Clinical oral investigations · 2026Article
- Proteomic alterations in patient bone-derived stromal cells and their secretomes in osteogenesis imperfecta.Molecular genetics and metabolism reports · 2026Article
- Practical approach to the diagnosis, management, and treatment of pediatric patients with bone fragility: an expert opinion.Journal of endocrinological investigation · 2026Review
- Collagen secretion and maturation in osteogenesis imperfecta: Systematic review and meta-analysis.Bone reports · 2026Article
- Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.International journal of molecular sciences · 2026Article
- 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
- Osteoblast-derived CAR3 synergizing with collagen and bone sialoprotein enhances bone formation.International journal of oral science · 2026Article
- What's New in Osteogenesis Imperfecta.Journal of the Pediatric Orthopaedic Society of North America · 2026Review
- The chitosan collagen salvianolic membrane mitigates intervertebral disc degeneration through suppression of the Wnt/β-catenin signaling.In vitro cellular & developmental biology. Animal · 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
- YBX1/PPIB axis promotes post-maturation arteriovenous fistula stenosis via enhancing endothelial to mesenchymal transition.Scientific reports · 2026Article
- Article
- Osteogenesis Imperfecta with a gross deletion including theBone reports · 2026Article
- In Individuals with Osteogenesis Imperfecta, Cephalometric Findings Suggest that Bisphosphonate Therapy May Improve Craniofacial Growth.Calcified tissue international · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, growth deficiency, and other secondary connective tissue defects. OI is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone mineralization and osteoblast differentiation. This review provides the latest updates on genetics of OI, including new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology. There is a special emphasis on discoveries of recessive mutations in TENT5A, MESD, KDELR2 and CCDC134 whose causality of OI types XIX, XX, XXI and XXI, respectively, is now established and expends the complexity of mechanisms underlying OI to overlap LRP5/6 and MAPK/ERK pathways. We also review in detail new discoveries connecting the known OI types to each other, which may underlie an eventual understanding of a final common pathway in OI cellular and bone biology.
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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.