Associated Papers
Comparative analysis of osteoclast function in symptomatic and asymptomatic individuals with cherubism-causing SH3BP2 mutation.
Abramovitch-Dahan C et al.
Jbmr Plus, 2025
Cherubism in a 4-Year-Old Boy: A Clinical, Radiological, and Genetic Report.
Cosar MS et al.
Case Reports in Dentistry, 2025
Cherubism as a systemic skeletal disease: evidence from an aggressive case.
Morice A et al.
Bmc Musculoskeletal Disorders, 2020
Familial cherubism: clinical and radiological features. Case report and review of the literature.
Sidorowicz W et al.
European Journal of Paediatric Dentistry, 2018
Clinical and genetic analysis of patients with cherubism.
Machado RA et al.
Oral Diseases, 2017
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature.
Jiao Y et al.
International Journal of Clinical and Experimental Medicine, 2015
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.
Sekerci AE et al.
Medicina Oral, Patologia Oral Y Cirugia Bucal, 2014
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
Sangu N et al.
Congenital Anomalies, 2013
Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease.
Pérez-Sayáns M et al.
Head & Face Medicine, 2013
Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.
Guettler S et al.
Cell, 2011
SH3BP2 mutations potentiate osteoclastogenesis via PLCγ.
Lietman SA et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report.
Preda L et al.
Molecular Syndromology, 2010
Abstracts of the 22nd Congress of the International Association of Paediatric Dentistry. Munich, Germany. June 17-20, 2009.
Unknown Author
International Journal of Paediatric Dentistry, 2009
[Gene mutation and expression of SH-3BP-2 in cherubism].
Li YW et al.
Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2009
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.
Lietman SA et al.
Human Mutation, 2006
Mutations of the SH3BP2 gene in 2 families of cherubism.
Tuna EB et al.
Pediatric Dentistry, 0