ReviewCurrent osteoporosis reports2007
Osteogenesis imperfecta:epidemiology and pathophysiology.
Review in Current osteoporosis reports, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04115774 (Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data is Linked to Patients Biological Samples, When Available), which is not on this map. Cited by 71 papers, 3 of them syntheses 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.
Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data is Linked to Patients Biological Samples, When Available
Who cites it
71 citing papers in PubMed, 3 syntheses or guidelines pooled it, 205 citations in OpenAlex.
- Posterior spinal fusion with pedicle screw-based constructs in osteogenesis imperfecta: a systematic review of surgical and radiographic outcomes.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Pooled it
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.Orphanet journal of rare diseases · 2023Pooled it
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Health-Related Quality of Life and Fatigue in Patients with Osteogenesis Imperfecta.Healthcare (Basel, Switzerland) · 2026Article
- In Individuals with Osteogenesis Imperfecta, Cephalometric Findings Suggest that Bisphosphonate Therapy May Improve Craniofacial Growth.Calcified tissue international · 2026Article
- Efficacy of Fetal MSC Therapy for Osteogenesis Imperfecta: A Systematic Review and Meta-Analysis in Mice.Stem cells international · 2026Review
- Peripheral Nerve Blocks in Patients With Osteogenesis Imperfecta Undergoing Extremity Procedures are Safe and Effective.Journal of the Pediatric Orthopaedic Society of North America · 2025Article
- Anisotropic mechanical properties of pediatric osteogenesis imperfecta bone in three-point bending between disease phenotypes and controls.Journal of biomechanics · 2025Article
- Review
- Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Determinants of masticatory ability in Taiwanese patients with osteogenesis imperfecta.Journal of dental sciences · 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
- Impaired salivary gland function in children with osteogenesis imperfecta: a case-control study.Clinical oral investigations · 2024Article
- Osteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.Intractable & rare diseases research · 2024Article
- Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.Journal of clinical psychology in medical settings · 2024Article
- AAV-based gene editing of type 1 collagen mutation to treat osteogenesis imperfecta.Molecular therapy. Nucleic acids · 2024Article
- The Regulatory Network of CREB3L1 and Its Roles in Physiological and Pathological Conditions.International journal of medical sciences · 2024Review
- Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024Article
- Editorial: Genetic and molecular determinants in bone health and diseases.Frontiers in endocrinology · 2024Article
- Article
11 more citing papers are in PubMed but not listed here.
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is the most common of the inherited connective tissue disorders that primarily affect bone. However, it is a systemic disorder, as evidenced by the occurrence of ocular complications, dentinogenesis imperfecta, hearing loss, joint laxity, restrictive pulmonary disease, and short stature. The OI classification initially included four phenotypes (I-IV) involving COL1A1 and COL1A2 mutations. Three new phenotypes have been added, of which one, type VII, is the result of mutations of the cartilage-associated protein (CRTAP) gene. Investigation of recessive forms of OI particularly reported among South African blacks have revealed mutations involving both the CRTAP gene and the leucine proline-enriched proteoglycan 1 (LEPRE1) gene, each involved in collagen proline-3 hydroxylation. Issues related to the treatment of OI with bisphosphonates involve patient selection, evaluation of the results of treatment, and the duration of treatment. Also, questions exist regarding the difference in treatment response between children and adults with OI. Other treatment options, such as recombinant human parathyroid hormone (1-34), Rank ligand inhibitors, and stem cell technology, are being evaluated or are of future investigative interest.
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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.