ReviewHuman genetics2021
Collagen transport and related pathways in Osteogenesis Imperfecta.
Review in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 3 of them syntheses that pooled it.
What it found
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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
53 citing papers in PubMed, 3 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.Calcified tissue international · 2024Pooled it
- Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review.Calcified tissue international · 2024Pooled it
- Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.Calcified tissue international · 2024Pooled it
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 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
- 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
- Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.EFORT open reviews · 2026Review
- A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.International journal of molecular sciences · 2026Review
- Microneedle-based transdermal delivery systems for metabolic bone diseases: advances, challenges, and future perspectives.Frontiers in bioengineering and biotechnology · 2026Review
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Promoting collagen synthesis: a viable strategy to combat skin ageing.Journal of enzyme inhibition and medicinal chemistry · 2025Review
- Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.Iranian biomedical journal · 2025Article
- Nanoscale Structural and Functional Impacts of Disease-Associated Collagen Mutations.bioRxiv : the preprint server for biology · 2025Article
- Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors.Cell communication and signaling : CCS · 2025Article
- Anesthetic management in pregnancy with osteogenesis imperfecta type XI: A comprehensive case report.International journal of surgery case reports · 2025Article
- 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
- Correlation of serum DKK1 level with skeletal phenotype in children with osteogenesis imperfecta.Journal of endocrinological investigation · 2024Article
- Improving the diffraction quality of heat-shock protein 47 crystals.Acta crystallographica. Section F, Structural biology communications · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease course prediction. Although collagen type I defects are long established as the primary cause of the bone pathology, we are still far from comprehending the complete mechanism. In the last years, the advent of next generation sequencing has triggered the discovery of many new genetic causes for OI, helping to draw its molecular landscape. It has become clear that, in addition to collagen type I genes, OI can be caused by multiple proteins connected to different parts of collagen biosynthesis. The production of collagen entails a complex process, starting from the production of the collagen Iα1 and collagen Iα2 chains in the endoplasmic reticulum, during and after which procollagen is subjected to a plethora of posttranslational modifications by chaperones. After reaching the Golgi organelle, procollagen is destined to the extracellular matrix where it forms collagen fibrils. Recently discovered mutations in components of the retrograde transport of chaperones highlight its emerging role as critical contributor of OI development. This review offers an overview of collagen regulation in the context of recent gene discoveries, emphasizing the significance of transport disruptions in the OI mechanism. We aim to motivate exploration of skeletal fragility in OI from the perspective of these pathways to identify regulatory points which can hint to therapeutic targets.
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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 Socratic graph.