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
Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?
Schreuder WH et al.
Bone, 2021
Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.
Deconte D et al.
Journal of Pediatric Genetics, 2021
Sh3bp2 Gain-Of-Function Mutation Ameliorates Lupus Phenotypes in B6.MRL-Faslpr Mice.
Nagasu A et al.
Cells, 2019
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.
Kadlub N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.
Mukai T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism.
Yoshitaka T et al.
Cell Reports, 2014
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-α-induced inflammation and bone loss.
Yoshitaka T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.
Hero M et al.
Bone, 2013
Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.
Guettler S et al.
Cell, 2011
Decreased SH3BP2 inhibits osteoclast differentiation and function.
Kawamoto T et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2011
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism.
Ogi K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2011
SH3BP2 mutations potentiate osteoclastogenesis via PLCγ.
Lietman SA et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function.
Mukherjee PM et al.
American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics, 2010
Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties.
Wang CJ et al.
Bone, 2010
Investigation of the SH3BP2 gene mutation in cherubism.
Lee JY et al.
Acta Medica Okayama, 2008
Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.
Ueki Y et al.
Cell, 2007
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
A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism.
Imai Y et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2003
[SH3BP2 heterozygous mutation amplifies macrophage inflammatory responses to infection in a mouse model of cherubism].
Deckert M et al.
Medecine Sciences : M/s, 0