ReviewCalcified tissue international2019
Rare Inherited forms of Paget's Disease and Related Syndromes.
Review in Calcified tissue international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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
18 citing papers in PubMed, 37 citations in OpenAlex.
- 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
- Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.Calcified tissue international · 2025Article
- Extra-osseous Roles of the RANK-RANKL-OPG Axis with a Focus on Skeletal Muscle.Current osteoporosis reports · 2024Review
- Endocrine Petrified Ear: Associated Endocrine Conditions in Auricular Calcification/Ossification (A Sample-Focused Analysis).Diagnostics (Basel, Switzerland) · 2024Review
- Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).Journal of bone and mineral metabolism · 2023Review
- A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.Orphanet journal of rare diseases · 2022Article
- Update on the pathogenesis and genetics of Paget's disease of bone.Frontiers in cell and developmental biology · 2022Review
- Pathological phase transitions in ALS-FTD impair dynamic RNA-protein granules.RNA (New York, N.Y.) · 2022Review
- Targeted Inactivation of Rin3 Increases Trabecular Bone Mass by Reducing Bone Resorption and Favouring Bone Formation.Calcified tissue international · 2021Article
- Genetic Determinants of Paget's Disease of Bone.Current osteoporosis reports · 2021Review
- Clinical course in two children with Juvenile Paget's disease during long-term treatment with intravenous bisphosphonates.Bone reports · 2021Article
- Review
- Paget's Disease of Bone: Osteoimmunology and Osteoclast Pathology.Current allergy and asthma reports · 2021Review
- Genetic Mutations inFrontiers in medicine · 2021Article
- The Genetic Architecture of High Bone Mass.Frontiers in endocrinology · 2020Review
- Article
- Focal and Osteosclerotic Bone Diseases.Calcified tissue international · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Several rare inherited disorders have been described that show phenotypic overlap with Paget's disease of bone (PDB) and in which PDB is a component of a multisystem disorder affecting muscle and the central nervous system. These conditions are the subject of this review article. Insertion mutations within exon 1 of the TNFRSF11A gene, encoding the receptor activator of nuclear factor kappa B (RANK), cause severe PDB-like disorders including familial expansile osteolysis, early-onset familial PDB and expansile skeletal hyperphosphatasia. The mutations interfere with normal processing of RANK and cause osteoclast activation through activation of nuclear factor kappa B (NFκB) independent of RANK ligand stimulation. Recessive, loss-of-function mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause juvenile PDB and here the bone disease is due to unopposed activation of RANK by RANKL. Multisystem proteinopathy is a disorder characterised by myopathy and neurodegeneration in which PDB is often an integral component. It may be caused by mutations in several genes including VCP, HNRNPA1, HNRNPA2B1, SQSTM1, MATR3, and TIA1, some of which are involved in classical PDB. The mechanisms of osteoclast activation in these conditions are less clear but may involve NFκB activation through sequestration of IκB. The evidence base for management of these disorders is somewhat limited due to the fact they are extremely rare. Bisphosphonates have been successfully used to gain control of elevated bone remodelling but as yet, no effective treatment exists for the treatment of the muscle and neurological manifestations of MSP syndromes.
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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.