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The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
Greco E, Aita A, Galozzi P, Gava A, Sfriso P, Negm OH, Tighe P, Caso F, Navaglia F, Dazzo E, De Bortoli M, Rampazzo A, Obici L, Donadei S, Merlini G, Plebani M, Todd I, Basso D, Punzi L. Greco E, et al. Among authors: merlini g. Arthritis Res Ther. 2015 Apr 3;17(1):93. doi: 10.1186/s13075-015-0604-7. Arthritis Res Ther. 2015. PMID: 25888769 Free PMC article.
Hereditary amyloidosis.
Palladini G, Obici L, Merlini G. Palladini G, et al. Among authors: merlini g. N Engl J Med. 2002 Oct 10;347(15):1206-7; author reply 1206-7. doi: 10.1056/NEJM200210103471517. N Engl J Med. 2002. PMID: 12374886 No abstract available.
Clinical aspects of systemic amyloid diseases.
Obici L, Perfetti V, Palladini G, Moratti R, Merlini G. Obici L, et al. Among authors: merlini g. Biochim Biophys Acta. 2005 Nov 10;1753(1):11-22. doi: 10.1016/j.bbapap.2005.08.014. Epub 2005 Sep 2. Biochim Biophys Acta. 2005. PMID: 16198646 Review.
628 results