ReviewFrontiers in endocrinology2021
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.
Review in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Generation ofJBMR plus · 2026Article
- Membrane Palmitoylated Protein 7 is Required for Osteogenesis and is Linked with Bone Mineralization and Osteoporosis: The Functional Evaluation of GEFOS GWAS Hit.Calcified tissue international · 2025Article
- Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis.International journal of molecular sciences · 2025Review
- A Review of Histological Techniques for Differentiating Human Bone from Animal Bone.Methods and protocols · 2024Review
- Bone fragility and osteoporosis in children and young adults.Journal of endocrinological investigation · 2024Review
- Identification of osteoporosis genes using family studies.Frontiers in endocrinology · 2024Review
- Bone Trans-omics: Integrating Omics to Unveil Mechanistic Molecular Networks Regulating Bone Biology and Disease.Current osteoporosis reports · 2023Review
- Anaphase-Promoting Complex Subunit 1 Associates with Bone Mineral Density in Human Osteoporotic Bone.International journal of molecular sciences · 2023Article
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- A variability in response of osteoclasts to zoledronic acid is mediated by smoking-associated modification in the DNA methylome.Clinical epigenetics · 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
- Return to sports after ACL injury 5 years from now: 10 things we must do.Journal of experimental orthopaedics · 2022Review
- Review
- The genetic overlap between osteoporosis and craniosynostosis.Frontiers in endocrinology · 2022Review
- A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.Frontiers in endocrinology · 2021Review
- The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects.Frontiers in endocrinology · 2021Review
Corrections and comments
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Authors and funding
28 authors at 19 institutions in 16 countries.
Funding
Abstract
The availability of large human datasets for genome-wide association studies (GWAS) and the advancement of sequencing technologies have boosted the identification of genetic variants in complex and rare diseases in the skeletal field. Yet, interpreting results from human association studies remains a challenge. To bridge the gap between genetic association and causality, a systematic functional investigation is necessary. Multiple unknowns exist for putative causal genes, including cellular localization of the molecular function. Intermediate traits ("endophenotypes"), e.g. molecular quantitative trait loci (molQTLs), are needed to identify mechanisms of underlying associations. Furthermore, index variants often reside in non-coding regions of the genome, therefore challenging for interpretation. Knowledge of non-coding variance (e.g. ncRNAs), repetitive sequences, and regulatory interactions between enhancers and their target genes is central for understanding causal genes in skeletal conditions. Animal models with deep skeletal phenotyping and cell culture models have already facilitated fine mapping of some association signals, elucidated gene mechanisms, and revealed disease-relevant biology. However, to accelerate research towards bridging the current gap between association and causality in skeletal diseases, alternative
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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.