ReviewFrontiers in endocrinology2019
High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.
Review in Frontiers in endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Pooled it
- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.Nature genetics · 2026Article
- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.bioRxiv : the preprint server for biology · 2026Article
- Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.Disease models & mechanisms · 2026Article
- The Scientific Case for Animal Models: A Perspective From Musculoskeletal Researchers.FASEB bioAdvances · 2026Article
- The mechanosensitive adhesion G protein-coupled receptor 133 (GPR133/ADGRD1) enhances bone formation.Signal transduction and targeted therapy · 2025Article
- Preclinical Rodent Models for Human Bone Disease, Including a Focus on Cortical Bone.Endocrine reviews · 2024Review
- Zebrafish as a Model for Osteoporosis: Functional Validations of Genome-Wide Association Studies.Current osteoporosis reports · 2023Review
- The Past, Present, and Future of Genetically Engineered Mouse Models for Skeletal Biology.Biomolecules · 2023Review
- Why Animal Experiments Are Still Indispensable in Bone Research: A Statement by the European Calcified Tissue Society.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Review
- Knockout mice are an important tool for human monogenic heart disease studies.Disease models & mechanisms · 2023Article
- High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Review
- Differential gene expression in the calvarial and cortical bone of juvenile female mice.Frontiers in endocrinology · 2023Article
- Promoting validation and cross-phylogenetic integration in model organism research.Disease models & mechanisms · 2022Article
- PHEXGenes · 2022Article
- Resolving complex cartilage structures in developmental biology via deep learning-based automatic segmentation of X-ray computed microtomography images.Scientific reports · 2022Article
- 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
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 2019 International Skeletal Dysplasia Society nosology update lists 441 genes for which mutations result in rare human skeletal disorders. These genes code for enzymes (33%), scaffolding proteins (18%), signal transduction proteins (16%), transcription factors (14%), cilia proteins (8%), extracellular matrix proteins (5%), and membrane transporters (4%). Skeletal disorders include aggrecanopathies, channelopathies, ciliopathies, cohesinopathies, laminopathies, linkeropathies, lysosomal storage diseases, protein-folding and RNA splicing defects, and ribosomopathies. With the goal of evaluating the ability of mouse models to mimic these human genetic skeletal disorders, a PubMed literature search identified 260 genes for which mutant mice were examined for skeletal phenotypes. These mouse models included spontaneous and ENU-induced mutants, global and conditional gene knockouts, and transgenic mice with gene over-expression or specific base-pair substitutions. The human X-linked gene SIGNIFICANCE: Great progress is being made identifying mutant genes responsible for human rare genetic skeletal disorders and mouse models for genes affecting bone mass, architecture, mineralization and strength. This review organizes data for 441 human genetic bone disorders with regard to heredity, gene function, molecular pathways, and fidelity of relevant mouse models to mimic the human skeletal disorders. PubMed weblinks to citations of 249 successful mouse models are provided.
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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.