ReviewCalcified tissue international2013
Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.
Review in Calcified tissue international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis 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.
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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
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 145 citations in OpenAlex.
- Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.Frontiers in medicine · 2023Pooled it
- Collagen Mechanics.Sub-cellular biochemistry · 2026Review
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Pig meniscus single-cell sequencing reveals highly active red zone chondrocyte populations involved in stemness maintenance and vascularization development.Journal of Zhejiang University. Science. B · 2025Article
- Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations.Human gene therapy · 2025Review
- Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Proteomic Insights into Osteoporosis: Unraveling Diagnostic Markers of and Therapeutic Targets for the Metabolic Bone Disease.Biomolecules · 2024Review
- Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.Current issues in molecular biology · 2024Article
- Bone Material Properties in Bone Diseases Affecting Children.Current osteoporosis reports · 2023Review
- Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.Orphanet journal of rare diseases · 2023Review
- Lysyl hydroxylase 2 mediated collagen post-translational modifications and functional outcomes.Scientific reports · 2022Article
- Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.JBMR plus · 2022Article
- Identification of a Rare Variant of c.1777G>A (p.G593S) in theFrontiers in pediatrics · 2022Article
- Bone fragility: conceptual framework, therapeutic implications, and COVID-19-related issues.Therapeutic advances in musculoskeletal disease · 2022Review
- Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused byFrontiers in pediatrics · 2022Article
- Age-related type I collagen modifications reveal tissue-defining differences between ligament and tendon.Matrix biology plus · 2021Article
- Collagen transport and related pathways in Osteogenesis Imperfecta.Human genetics · 2021Review
- Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta.Matrix biology : journal of the International Society for Matrix Biology · 2021Article
- Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound HeterozygousJBMR plus · 2021Article
- Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation inFrontiers in genetics · 2021Article
12 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
Abstract
Until 2006 the only mutations known to cause osteogenesis imperfecta (OI) were in the two genes coding for type I collagen chains. These dominant mutations affecting the expression or primary sequence of collagen α1(I) and α2(I) chains account for over 90% of OI cases. Since then a growing list of mutant genes causing the 5-10% of recessive cases has rapidly emerged. They include CRTAP, LEPRE1, and PPIB, which encode three proteins forming the prolyl 3-hydroxylase complex; PLOD2 and FKBP10, which encode, respectively, lysyl hydroxylase 2 and a foldase required for its activity in forming mature cross-links in bone collagen; SERPINH1, which encodes the collagen chaperone HSP47; SERPINF1, which encodes pigment epithelium-derived factor required for osteoid mineralization; and BMP1, which encodes the type I procollagen C-propeptidase. All cause fragile bone in infancy, which can include overmineralization or undermineralization defects as well as abnormal collagen posttranslational modifications. Consistently both dominant and recessive variants lead to abnormal cross-linking chemistry in bone collagen. These recent discoveries strengthen the potential for a common pathogenic mechanism of misassembled collagen fibrils. Of the new genes identified, eight encode proteins required for collagen posttranslational modification, chaperoning of newly synthesized collagen chains into native molecules, or transport through the endoplasmic reticulum and Golgi for polymerization, cross-linking, and mineralization. In reviewing these findings, we conclude that a common theme is emerging in the pathogenesis of brittle bone disease of mishandled collagen assembly with important insights on posttranslational features of bone collagen that have evolved to optimize it as a biomineral template.
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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.