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Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, Lachmann HJ, Bybee A, Gaudet R, Woo P, Feighery C, Cotter FE, Thome M, Hitman GA, Tschopp J, McDermott MF. Aganna E, et al. Arthritis Rheum. 2002 Sep;46(9):2445-52. doi: 10.1002/art.10509. Arthritis Rheum. 2002. PMID: 12355493 Free article.
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yagüe J, Mirakian RM, Hitman GA, McDermott MF. Aganna E, et al. Arthritis Rheum. 2003 Sep;48(9):2632-44. doi: 10.1002/art.11215. Arthritis Rheum. 2003. PMID: 13130484 Free article.
Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation.
Yousaf N, Gould DJ, Aganna E, Hammond L, Mirakian RM, Turner MD, Hitman GA, McDermott MF, Chernajovsky Y. Yousaf N, et al. Among authors: aganna e. Arthritis Rheum. 2005 Sep;52(9):2906-16. doi: 10.1002/art.21268. Arthritis Rheum. 2005. PMID: 16142754 Free article.
22 results