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-s002.zip › Supplementary_file_9.xlsx › A__OMIM_dataset
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
SH3BP2 mutations potentiate osteoclastogenesis via PLCγ.
Lietman SA et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
[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
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