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Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
Rea SL, Walsh JP, Ward L, Magno AL, Ward BK, Shaw B, Layfield R, Kent GN, Xu J, Ratajczak T. Rea SL, et al. Among authors: ward l, ward bk. J Bone Miner Res. 2009 Jul;24(7):1216-23. doi: 10.1359/jbmr.090214. J Bone Miner Res. 2009. PMID: 19257822 Free article.
Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism.
Ward BK, Loffell KA, Walsh JP, Howe WD, Brown SJ, Wilson SG. Ward BK, et al. Case Rep Endocrinol. 2024 Feb 3;2024:6652801. doi: 10.1155/2024/6652801. eCollection 2024. Case Rep Endocrinol. 2024. PMID: 38343604 Free PMC article.
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH; Genetic Determinants of Paget's Disease (GDPD) Consortium. Albagha OM, et al. Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845. Nat Genet. 2011. PMID: 21623375 Free article.
144 results