ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2010
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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72 citing papers in PubMed, 118 citations in OpenAlex.
- OMICS Profiling Identifies Signatures of Senescence in Osteogenesis Imperfecta Osteoblasts Counteracted by 4-PBA.Journal of cellular and molecular medicine · 2026Article
- Microautophagy: current understanding of its molecular mechanisms and functions.Autophagy reports · 2026Review
- LC3 and GABARAP independent autophagy of misfolded procollagen in mouse osteoblasts.Autophagy · 2025Article
- Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.American journal of medical genetics. Part A · 2025Article
- Maternal Health and Safety Outcomes of Prenatal Myostatin Inhibition in Osteogenesis Imperfecta Mice.Endocrinology · 2025Article
- Characterization of a Novel Col1a1Calcified tissue international · 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
- Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.Calcified tissue international · 2024Review
- Assessment of submicron bone tissue composition in plastic-embedded samples using optical photothermal infrared (O-PTIR) spectral imaging and machine learning.Journal of structural biology: X · 2024Article
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Sestrin2 drives ER-phagy in response to protein misfolding.Developmental cell · 2024Article
- Article
- RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Effects of novel raloxifene analogs alone or in combination with mechanical loading in the Col1a2Bone · 2024Article
- Collagen mutation and age contribute to differential craniofacial phenotypes in mouse models of osteogenesis imperfecta.JBMR plus · 2024Article
- Mesenchymal stem cells in the treatment of osteogenesis imperfecta.Cell regeneration (London, England) · 2023Review
- Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta.The Journal of physiology · 2023Article
- Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life.International journal of molecular sciences · 2022Review
- Collagen cross-link profiles and mineral are different between the mandible and femur with site specific response to perturbed collagen.Bone reports · 2022Article
- Collagen piezoelectricity in osteogenesis imperfecta and its role in intrafibrillar mineralization.Communications biology · 2022Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 7 institutions in 1 country.
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Abstract
Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation. Variable phenotype for OI patients with identical collagen mutations is well established, but phenotype variability is described using the qualitative Sillence classification. Patterning a new OI mouse model on a specific collagen mutation therefore has been hindered by the absence of an appropriate kindred with extensive quantitative phenotype data. We benefited from the large sibships of the Old Order Amish (OOA) to define a wide range of OI phenotypes in 64 individuals with the identical COL1A2 mutation. Stratification of carrier spine (L1-4) areal bone mineral density (aBMD) Z-scores demonstrated that 73% had moderate to severe disease (less than -2), 23% had mild disease (-1 to -2), and 4% were in the unaffected range (greater than -1). A line of knock-in mice was patterned on the OOA mutation. Bone phenotype was evaluated in four F(1) lines of knock-in mice that each shared approximately 50% of their genetic background. Consistent with the human pedigree, these mice had reduced body mass, aBMD, and bone strength. Whole-bone fracture susceptibility was influenced by individual genomic factors that were reflected in size, shape, and possibly bone metabolic regulation. The results indicate that the G610C OI (Amish) knock-in mouse is a novel translational model to identify modifying genes that influence phenotype and for testing potential therapies for OI.
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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.