ReviewFrontiers in endocrinology2020
The Genetic Architecture of High Bone Mass.
Review in Frontiers in endocrinology, 2020. 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, 32 citations in OpenAlex.
- Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Current osteoporosis reports · 2026Review
- Rare missense variants inJournal of medical genetics · 2025Article
- Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.Human genomics · 2024Article
- Male Lrp5A214V mice maintain high bone mass during dietary calcium restriction by altering the vitamin D endocrine system.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- The role of genetic and epigenetic factors in determining the risk of spinal fragility fractures: new insights in the management of spinal osteoporosis.Quantitative imaging in medicine and surgery · 2023Review
- Review
- Article
- Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.JBMR plus · 2023Article
- Structure of the Wnt-Frizzled-LRP6 initiation complex reveals the basis for coreceptor discrimination.Proceedings of the National Academy of Sciences of the United States of America · 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
- Review
- High bone mass and cam morphology are independently related to hip osteoarthritis: findings from the High Bone Mass cohort.BMC musculoskeletal disorders · 2022Article
- Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.JBMR plus · 2022Article
- The genetic overlap between osteoporosis and craniosynostosis.Frontiers in endocrinology · 2022Review
- Diffuse Idiopathic Skeletal Hyperostosis of Cervical Spine with Dysphagia-Molecular and Clinical Aspects.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between common and rare disease genetics. HBM may arise from carriage of many 'high bone mineral density [BMD]'-associated alleles, and certainly the genetic architecture of individuals with HBM is enriched with high BMD variants identified through genome-wide association studies of BMD. HBM may also arise as a monogenic skeletal disorder, due to abnormalities in bone formation, bone resorption, and/or bone turnover. Individuals with monogenic disorders of HBM usually, though not invariably, have other skeletal abnormalities (such as mandible enlargement) and thus are best regarded as having a skeletal dysplasia rather than just isolated high BMD. A binary etiological division of HBM into polygenic
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Registered trials
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