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A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).
Churchman SM, Church LD, Savic S, Coulthard LR, Hayward B, Nedjai B, Turner MD, Mathews RJ, Baguley E, Hitman GA, Gooi HC, Wood PM, Emery P, McDermott MF. Churchman SM, et al. Among authors: mcdermott mf. Ann Rheum Dis. 2008 Nov;67(11):1589-95. doi: 10.1136/ard.2007.078667. Epub 2007 Dec 17. Ann Rheum Dis. 2008. PMID: 18086728
Linkage of familial Hibernian fever to chromosome 12p13.
McDermott MF, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell RJ, Amos CI, Hitman GA. McDermott MF, et al. Among authors: mcdermott em. Am J Hum Genet. 1998 Jun;62(6):1446-51. doi: 10.1086/301886. Am J Hum Genet. 1998. PMID: 9585614 Free PMC article.
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL. McDermott MF, et al. Among authors: mcdermott em. Cell. 1999 Apr 2;97(1):133-44. doi: 10.1016/s0092-8674(00)80721-7. Cell. 1999. PMID: 10199409 Free article.
TNFRSF1A mutations and autoinflammatory syndromes.
Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. Galon J, et al. Among authors: mcdermott mf. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. Curr Opin Immunol. 2000. PMID: 10899034 Review.
Hereditary periodic fever syndromes.
McDermott MF, Frenkel J. McDermott MF, et al. Neth J Med. 2001 Sep;59(3):118-25. doi: 10.1016/s0300-2977(01)00149-8. Neth J Med. 2001. PMID: 11583827 Review.
156 results