ReviewOrphanet journal of rare diseases2012
The role of SH3BP2 in the pathophysiology of cherubism.
Review in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 47 papers, 3 of them syntheses 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.
Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Natural Hisotry of Cherubism Observational Study
Who cites it
47 citing papers in PubMed, 3 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Pooled it
- Pharmacological management of cherubism: A systematic review.Frontiers in endocrinology · 2023Pooled it
- Screening of autoinflammatory genes in patients with SARS-CoV-2-associated MIS-C.Human genomics · 2026Article
- Exploring a cherubism bone phenotype outside the craniofacial region.Orphanet journal of rare diseases · 2026Article
- Cherubism: An African-Focused Review.Children (Basel, Switzerland) · 2026Review
- Oral and Craniofacial Development and Immunology.Advances in experimental medicine and biology · 2026Review
- The Role of Genetics in Human Oral Health: A Systematic-Narrative Review.Dentistry journal · 2025Review
- Article
- Cherubism in a 4-Year-Old Boy: A Clinical, Radiological, and Genetic Report.Case reports in dentistry · 2025Article
- Genetic Variants in theInternational journal of molecular sciences · 2024Article
- Loss-of-functionJBMR plus · 2024Article
- Thoughts on the Etiology of Cherubism.Journal of clinical medicine · 2024Article
- Article
- Treatment of Progressive Cherubism during the Second Dental Transitional Phase with Calcitonin.Case reports in dentistry · 2023Article
- Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases.Molecular genetics & genomic medicine · 2023Article
- Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.Acta stomatologica Croatica · 2022Review
- Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.Journal of pediatric genetics · 2021Article
- Prognostic model of 10 immune-related genes and identification of small molecule drugs in bladder urothelial carcinoma (BLCA).Translational andrology and urology · 2020Article
- Cherubism as a systemic skeletal disease: evidence from an aggressive case.BMC musculoskeletal disorders · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 1 country.
Funding
Abstract
Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans.
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.