ReviewCurrent osteoporosis reports2021
Genetic Determinants of Paget's Disease of Bone.
Review in Current osteoporosis reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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
13 citing papers in PubMed, 24 citations in OpenAlex.
- Artificial Intelligence-Assisted Structural Analysis of Bones with Paget's Disease of Bone and Osteoporosis: Lessons from Mouse Models.Diagnostics (Basel, Switzerland) · 2026Article
- Paget's Disease Unveiled in a Primary Care Setting: A Case of High Alkaline Phosphatase.Cureus · 2026Article
- Paget's disease of bone: pathogenesis, ocular manifestations, and therapeutic strategies.Orphanet journal of rare diseases · 2026Review
- Paget's disease of bone in a North African population: clinical, imaging, and therapeutic insights from a Moroccan case series.Clinical rheumatology · 2026Review
- Latest developments in Paget's disease of bone.European journal of endocrinology · 2025Review
- Paget's Disease of Bone and Normocalcemic Variant of Primary Hyperparathyroidism in an Osteoporotic Male: Exceptional Coexistence.Reports (MDPI) · 2025Article
- Intrinsically Disordered Regions of Zinc Finger Protein 687 in Phase Separation: A Potentially Pathogenic Driver of Paget's Disease of Bone.ACS pharmacology & translational science · 2025Review
- Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of Bone.Calcified tissue international · 2025Article
- Stage-specific modulation of multinucleation, fusion, and resorption by the long non-coding RNA DLEU1 and miR-16 in human primary osteoclasts.Cell death & disease · 2024Article
- Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.Calcified tissue international · 2023Article
- Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).Journal of bone and mineral metabolism · 2023Review
- Review
- Update on the pathogenesis and genetics of Paget's disease of bone.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewTo provide an overview of the role of genes and loci that predispose to Paget's disease of bone and related disorders. RECENT
findingsStudies over the past ten years have seen major advances in knowledge on the role of genetic factors in Paget's disease of bone (PDB). Genome wide association studies have identified six loci that predispose to the disease whereas family based studies have identified a further eight genes that cause PDB. This brings the total number of genes and loci implicated in PDB to fourteen. Emerging evidence has shown that a number of these genes also predispose to multisystem proteinopathy syndromes where PDB is accompanied by neurodegeneration and myopathy due to the accumulation of abnormal protein aggregates, emphasising the importance of defects in autophagy in the pathogenesis of PDB. Genetic factors play a key role in the pathogenesis of PDB and the studies in this area have identified several genes previously not suspected to play a role in bone metabolism. Genetic testing coupled to targeted therapeutic intervention is being explored as a way of halting disease progression and improving outcome before irreversible skeletal damage has occurred.
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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.