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Results: 1 to 20 of 26

1.

Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.

Clementi A, Cruz DN, Granata A, Virzì GM, Battaglia G.

Clin Kidney J. 2013 Dec;6(6):613-617. Epub 2013 Sep 24.

PMID:
24286006
[PubMed]
Free PMC Article
2.

Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.

Caso F, Rigante D, Vitale A, Lucherini OM, Costa L, Atteno M, Compagnone A, Caso P, Frediani B, Galeazzi M, Punzi L, Cantarini L.

Int J Rheumatol. 2013;2013:513782. doi: 10.1155/2013/513782. Epub 2013 Oct 24. Review.

PMID:
24282415
[PubMed]
Free PMC Article
3.

First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

Lucherini OM, Obici L, Ferracin M, Fulci V, McDermott MF, Merlini G, Muscari I, Magnotti F, Dickie LJ, Galeazzi M, Negrini M, Baldari CT, Cimaz R, Cantarini L.

PLoS One. 2013 Sep 16;8(9):e73443. doi: 10.1371/journal.pone.0073443. eCollection 2013.

PMID:
24066048
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases.

Rigante D, Frediani B, Galeazzi M, Cantarini L.

Biomed Res Int. 2013;2013:485103. doi: 10.1155/2013/485103. Epub 2013 Jul 23. Review.

PMID:
23971037
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.

Jéru I, Charmion S, Cochet E, Copin B, Duquesnoy P, Garcia MT, Le Borgne G, Cathebras P, Gaillat J, Karabina S, Dodé C, Lohse P, Hentgen V, Amselem S.

PLoS One. 2013 Jul 24;8(7):e69757. doi: 10.1371/journal.pone.0069757. Print 2013.

PMID:
23894535
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.

Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3. Review.

PMID:
23820649
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Monogenic autoinflammatory diseases: concept and clinical manifestations.

Almeida de Jesus A, Goldbach-Mansky R.

Clin Immunol. 2013 Jun;147(3):155-74. doi: 10.1016/j.clim.2013.03.016. Epub 2013 Apr 9. Review.

PMID:
23711932
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Caution Should be Used in the Recognition of Adult-Onset Autoinflammatory Disorders: Facts or Fiction?

Cantarini L, Lucherini OM, Rigante D.

Front Immunol. 2013 Apr 23;4:96. doi: 10.3389/fimmu.2013.00096. eCollection 2013. No abstract available.

PMID:
23630527
[PubMed]
Free PMC Article
9.

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.

Rowczenio DM, Trojer H, Russell T, Baginska A, Lane T, Stewart NM, Gillmore JD, Hawkins PN, Woo P, Mikoluc B, Lachmann HJ.

Arthritis Res Ther. 2013 Feb 19;15(1):R30. doi: 10.1186/ar4171.

PMID:
23421920
[PubMed - in process]
Free PMC Article
10.

Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis.

Caminero A, Comabella M, Montalban X.

Clin Exp Immunol. 2011 Dec;166(3):338-45. doi: 10.1111/j.1365-2249.2011.04484.x.

PMID:
22059991
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Renal amyloidosis in children.

Bilginer Y, Akpolat T, Ozen S.

Pediatr Nephrol. 2011 Aug;26(8):1215-27. doi: 10.1007/s00467-011-1797-x. Epub 2011 Mar 1. Review.

PMID:
21360109
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.

Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, Calcagno G, Tommasini A, Bossi G, Sormani MP, Caroli F, Plebani A, Ceccherini I, Martini A, Gattorno M.

Arthritis Rheum. 2011 Apr;63(4):1141-50. doi: 10.1002/art.30237.

PMID:
21225694
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

New take on comparative immunology: relevance to immunotherapy.

Wang E, Albini A, Stroncek DF, Marincola FM.

Immunotherapy. 2009 May;1(3):355-66. doi: 10.2217/imt.09.10.

PMID:
20635956
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

De Jager PL, Jia X, Wang J, de Bakker PI, Ottoboni L, Aggarwal NT, Piccio L, Raychaudhuri S, Tran D, Aubin C, Briskin R, Romano S; International MS Genetics Consortium, Baranzini SE, McCauley JL, Pericak-Vance MA, Haines JL, Gibson RA, Naeglin Y, Uitdehaag B, Matthews PM, Kappos L, Polman C, McArdle WL, Strachan DP, Evans D, Cross AH, Daly MJ, Compston A, Sawcer SJ, Weiner HL, Hauser SL, Hafler DA, Oksenberg JR.

Nat Genet. 2009 Jul;41(7):776-82. doi: 10.1038/ng.401. Epub 2009 Jun 14.

PMID:
19525953
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).

Masters SL, Simon A, Aksentijevich I, Kastner DL.

Annu Rev Immunol. 2009;27:621-68. doi: 10.1146/annurev.immunol.25.022106.141627. Review.

PMID:
19302049
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Developments in the scientific and clinical understanding of autoinflammatory disorders.

Lachmann HJ, Hawkins PN.

Arthritis Res Ther. 2009;11(1):212. doi: 10.1186/ar2579. Epub 2009 Jan 30.

PMID:
19232070
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome.

Kimberley FC, Lobito AA, Siegel RM, Screaton GR.

Arthritis Res Ther. 2007;9(4):217. Review.

PMID:
17666110
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease.

Dieudé P, Goossens M, Cornélis F, Michou L, Bardin T, Tchernitchko DO; European Consortium on Rheumatoid Arthritis Families.

Ann Rheum Dis. 2007 Aug;66(8):1113-5. Epub 2007 Jan 18.

PMID:
17234651
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS).

Lobito AA, Kimberley FC, Muppidi JR, Komarow H, Jackson AJ, Hull KM, Kastner DL, Screaton GR, Siegel RM.

Blood. 2006 Aug 15;108(4):1320-7. Epub 2006 May 9.

PMID:
16684962
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.

Ravet N, Rouaghe S, Dodé C, Bienvenu J, Stirnemann J, Lévy P, Delpech M, Grateau G.

Ann Rheum Dis. 2006 Sep;65(9):1158-62. Epub 2006 Mar 28.

PMID:
16569687
[PubMed - indexed for MEDLINE]
Free PMC Article

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