Associated Papers
SYK-3BP2 Pathway Activity in Parenchymal and Myeloid Cells Is a Key Pathogenic Factor in Metabolic Steatohepatitis.
Luci C et al.
Cellular and Molecular Gastroenterology and Hepatology, 2022
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages.
Prod'Homme V et al.
The Journal of Clinical Investigation, 2015
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
Genetic study of an Indian family with cherubism.
Singh A et al.
Indian Journal of Pediatrics, 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
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.
Prescott T et al.
European Journal of Medical Genetics, 2013
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
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
Lo B et al.
American Journal of Medical Genetics. Part A, 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
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