ReviewCurrent osteoporosis reports2014
Genetics of Paget's disease of bone.
Review in Current osteoporosis reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- Pooled it
- Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.Scientific reports · 2024Article
- Osteolytic Bone Loss and Skeletal Deformities in a Mouse Model for Early-Onset Paget's Disease of Bone withPharmaceuticals (Basel, Switzerland) · 2023Article
- Profilin-1 negatively controls osteoclast migration by suppressing the protrusive structures based on branched actin filaments.Journal of bone and mineral metabolism · 2022Article
- The Paget's disease of bone risk gene PML is a negative regulator of osteoclast differentiation and bone resorption.Disease models & mechanisms · 2022Article
- Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.Frontiers in endocrinology · 2022Article
- The frequency of somatic mutations in cancer predicts the phenotypic relevance of germline mutations.Frontiers in genetics · 2022Article
- Epigenetic DNA Methylation Signatures Associated With the Severity of Paget's Disease of Bone.Frontiers in cell and developmental biology · 2022Article
- The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-κB signalling function.PloS one · 2021Article
- Paget's disease of bone: when and why to refer to specialist care.The British journal of general practice : the journal of the Royal College of General Practitioners · 2020Article
- Global deletion of Optineurin results in altered type I IFN signaling and abnormal bone remodeling in a model of Paget's disease.Cell death and differentiation · 2020Article
- Molecular insights into an ancient form of Paget's disease of bone.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- The genetics of bone mass and susceptibility to bone diseases.Nature reviews. Rheumatology · 2016Review
- How rare bone diseases have informed our knowledge of complex diseases.BoneKEy reports · 2016Review
- Article
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
Abstract
Paget's disease of bone (PDB) is a common condition, which is characterised by focal areas of increased and disorganized bone remodeling. Genetic factors play an important role in the disease. In some cases, Paget's disease is inherited in an autosomal dominant manner and the most common cause for this is a mutation in the SQSTM1 gene. Other familial cases have been linked to the OPTN locus on Chromosome 10p13 and still other variants have been identified by genome wide association studies that lie within or close to genes that play roles in osteoclast differentiation and function. Mutations in TNFRSF11A, TNFRSF11B and VCP have been identified in rare syndromes with PDB-like features. These advances have improved understanding of bone biology and the causes of PDB. The identification of genetic markers for PDB also raises the prospect that genetic profiling could identify patients at high risk of developing complications, permitting enhanced surveillance and early therapeutic intervention.
Indexed as
Identifiers
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.