- Title
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ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor
- Authors
- Divisato, G., Formicola, D., Esposito, T., Merlotti, D., Pazzaglia, L., Del Fattore, A., Siris, E., Orcel, P., Brown, J.P., Nuti, R., Strazzullo, P., Benassi, M.S., Cancela, M.L., Michou, L., Rendina, D., Gennari, L., Gianfrancesco, F.
- Source
- Full text @ Am. J. Hum. Genet.
Expression and Functional Characterization of ZNF687 (A and B) Expression analysis of ZNF687 during human osteoclastogenesis (A) and human osteoblastogenesis (B). The data shown are representative of three independent experiments and were analyzed by Student’s t test. (C and D) The scheme of caudal fin regeneration in zebrafish (Danio rerio) (C) and the expression of ZNF687a and ZNF687b (zebrafish orthologs) during this process (D). (E) ZNF687a and ZNF687b expression during Danio rerio development. (F) Bioinformatic prediction of the NLS in ZNF687 between amino acids 938 and 955 enhanced as a consequence of the substitution of arginine at the 937 position. (G) The expression of ZNF687 in nuclear- and cytoplasmic-extracts in lymphoblastic cell lines derived from affected individuals with the p.Pro937Arg change (PDB-affected individuals 1–4) in comparison to expression in those derived from healthy subjects (control individuals 1 and 2). ZNF687 antibody detected one band of about 135 kDa in the cytoplasm and two bands of about 100 and 135 kDa in the nucleus. Cytoplasm and nuclear extracts contained only minimal or no contamination (data not shown). (H) The quantifications of cytoplasmic and nuclear fractions. (I–K) The increased number of nuclei and the increased cellular area of osteoclasts derived from PDB subjects carrying the c.2810C>G mutation compared to the controls. ∗p < 0.05; ∗∗p < 0.01; ∗∗∗p < 0.001. |
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