Associated Papers
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › COSMIC
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
A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.
Dinckan N et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2012
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
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
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