Article
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2012
Gianfrancesco Fernando, Rendina Domenico, Di Stefano Marco, Mingione Alessandra, Esposito Teresa, Merlotti Daniela, Gallone Salvatore, Magliocca Sara, Goode Alice, Formicola Daniela, Morello Giovanna, Layfield Robert, Frattini Annalisa, De Filippo Gianpaolo, Nuti Ranuccio, Searle Mark, Strazzullo Pasquale, Isaia Giancarlo, Mossetti Giuseppe, Gennari Luigi
Abstract excerpt
Mutations in the SQSTM1 gene were identified as a common cause of Paget's disease of bone (PDB) but experimental evidence demonstrated that SQSTM1 mutation is not sufficient to induce PDB in vivo. Here, we identified two nonsynonymous single nucleotide polymorphisms (SNPs) (C421T, H141Y and T575C, V192A) in the TNFRSF11A gene, associated with PDB and with the severity of phenotype in a large population of 654...
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