ReviewBone2017
Genetic causes and mechanisms of Osteogenesis Imperfecta.
Review in Bone, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 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
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.European journal of human genetics : EJHG · 2019Trial
- Osteocalcin-dependent and -independent metabolic dysregulation in a mouse model of Osteogenesis imperfecta.Bone research · 2026Article
- Health-Related Quality of Life and Fatigue in Patients with Osteogenesis Imperfecta.Healthcare (Basel, Switzerland) · 2026Article
- What's New in Osteogenesis Imperfecta.Journal of the Pediatric Orthopaedic Society of North America · 2026Review
- Ribosome heterogeneity and specialization in musculoskeletal physiology and pathology.JBMR plus · 2026Article
- Microneedle-based transdermal delivery systems for metabolic bone diseases: advances, challenges, and future perspectives.Frontiers in bioengineering and biotechnology · 2026Review
- Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.Human mutation · 2026Article
- Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients.Frontiers in endocrinology · 2026Article
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Review
- Osteoclast-independent osteocyte dendrite defects in mice bearing the osteogenesis imperfecta-causing Sp7 R342C mutation.Bone research · 2025Article
- Quantitative Real-Time RT-PCR Verifying Gene Expression Profile of Cavitations Within Human Jaw Bone.Biomedicines · 2025Article
- Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype CorrelationJournal of clinical research in pediatric endocrinology · 2024Article
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Article
- Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.Orphanet journal of rare diseases · 2024Article
- Biosynthesized Silver Nanoparticles fromCurrent pharmaceutical biotechnology · 2024Article
- Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1.Calcified tissue international · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by various clinical features including bone deformities, low bone mass, brittle bones, and connective tissue manifestations. The predominant cause of OI is due to mutations in the two genes that encode type I collagen. However, recent advances in sequencing technology has led to the discovery of novel genes that are implicated in recessive and dominant OI. These include genes that regulate the post-translational modification, secretion and processing of type I collagen as well as those required for osteoblast differentiation and bone mineralization. As such, OI has become a spectrum of genetic disorders informing about the determinants of both bone quantity and quality. Here we summarize the known genetic causes of OI, animal models that recapitulate the human disease and mechanisms that underlie disease pathogenesis. Additionally, we discuss the effects of disrupted collagen networks on extracellular matrix signaling and its impact on disease progression.
Indexed as
Identifiers
What OpenQuestion holds
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.