-
3
-
-
27344448749
-
Familial autoinflammatory diseases: Genetics, pathogenesis and treatment
-
Stojanov S, Kastner DL. Familial autoinflammatory diseases: Genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586-599.
-
(2005)
Curr Opin Rheumatol
, vol.17
, pp. 586-599
-
-
Stojanov, S.1
Kastner, D.L.2
-
4
-
-
1642285783
-
NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
-
Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004; 20 319-325.
-
(2004)
Immunity
, vol.20
, pp. 319-325
-
-
Agostini, L.1
Martinon, F.2
Burns, K.3
McDermott, M.F.4
Hawkins, P.N.5
Tschopp, J.6
-
5
-
-
0035179970
-
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
-
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-305.
-
(2001)
Nat Genet
, vol.29
, pp. 301-305
-
-
Hoffman, H.M.1
Mueller, J.L.2
Broide, D.H.3
Wanderer, A.A.4
Kolodner, R.D.5
-
6
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002; 71: 198-203.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
-
7
-
-
0033039501
-
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
-
Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999; 22: 178-181.
-
(1999)
Nat Genet
, vol.22
, pp. 178-181
-
-
Drenth, J.P.1
Cuisset, L.2
Grateau, G.3
Vasseur, C.4
van de Velde-Visser, S.D.5
de Jong, J.G.6
-
8
-
-
0032987982
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
-
Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22: 175-177.
-
(1999)
Nat Genet
, vol.22
, pp. 175-177
-
-
Houten, S.M.1
Kuis, W.2
Duran, M.3
de Koning, T.J.4
van Royen-Kerkhof, A.5
Romeijn, G.J.6
-
9
-
-
0037091012
-
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
-
Wise CA, Gillum JD, Seidman CE, Lindor NM, Velle R, Bashiardes S et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 2002; 11: 961-969.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 961-969
-
-
Wise, C.A.1
Gillum, J.D.2
Seidman, C.E.3
Lindor, N.M.4
Velle, R.5
Bashiardes, S.6
-
10
-
-
0036733312
-
The TNF receptor-associated periodic syndrome (TRAPS): Emergng concepts of an autoinflammatory disorder
-
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM et al. The TNF receptor-associated periodic syndrome (TRAPS): Emergng concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81: 349-368.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 349-368
-
-
Hull, K.M.1
Drewe, E.2
Aksentijevich, I.3
Singh, H.K.4
Wong, K.5
McDermott, E.M.6
-
11
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott M, Aksentijevich I, Galon J, McDermott E, Ogunkolade B, Centola M et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-144.
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.1
Aksentijevich, I.2
Galon, J.3
McDermott, E.4
Ogunkolade, B.5
Centola, M.6
-
12
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
The French FMF Consortium
-
The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
-
13
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
The International FMF Consortium
-
The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807.
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
14
-
-
0034658465
-
The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
-
Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95: 3223-3231.
-
(2000)
Blood
, vol.95
, pp. 3223-3231
-
-
Centola, M.1
Wood, G.2
Frucht, D.M.3
Galon, J.4
Aringer, M.5
Farrell, C.6
-
15
-
-
8444230096
-
Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: A prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever
-
Diaz A, Hu C, Kastner DL, Schaner P, Reginato AM, Richards N et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: A prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum 2004; 50: 3679-3689.
-
(2004)
Arthritis Rheum
, vol.50
, pp. 3679-3689
-
-
Diaz, A.1
Hu, C.2
Kastner, D.L.3
Schaner, P.4
Reginato, A.M.5
Richards, N.6
-
16
-
-
0034642299
-
Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/ pyrin protein to the nucleus
-
Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/ pyrin protein to the nucleus. Hum Mol Genet 2000; 9: 3001-3009.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3001-3009
-
-
Papin, S.1
Duquesnoy, P.2
Cazeneuve, C.3
Pantel, J.4
Coppey-Moisan, M.5
Dargemont, C.6
-
17
-
-
20744453230
-
Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus.
-
Jeru I, Papin S, L'Hoste S, Duquesnoy P, Cazeneuve C, Camonis J et al. Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus. Arthritis Rheum 2005; 52: 1848-1857.
-
(2005)
Arthritis Rheum
, vol.52
, pp. 1848-1857
-
-
Jeru, I.1
Papin, S.2
L'Hoste, S.3
Duquesnoy, P.4
Cazeneuve, C.5
Camonis, J.6
-
18
-
-
0035437141
-
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
-
Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98: 851-859.
-
(2001)
Blood
, vol.98
, pp. 851-859
-
-
Mansfield, E.1
Chae, J.J.2
Komarow, H.D.3
Brotz, T.M.4
Frucht, D.M.5
Aksentijevich, I.6
-
19
-
-
0035914452
-
Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
-
Richards N, Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001; 276: 39320-39329.
-
(2001)
J Biol Chem
, vol.276
, pp. 39320-39329
-
-
Richards, N.1
Schaner, P.2
Diaz, A.3
Stuckey, J.4
Shelden, E.5
Wadhwa, A.6
-
20
-
-
0034651904
-
Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin
-
Tidow N, Chen X, Muller C, Kawano S, Gombart AF, Fischel-Ghodsian N et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000; 95: 1451-1455.
-
(2000)
Blood
, vol.95
, pp. 1451-1455
-
-
Tidow, N.1
Chen, X.2
Muller, C.3
Kawano, S.4
Gombart, A.F.5
Fischel-Ghodsian, N.6
-
21
-
-
0034857603
-
The Pyrin domain: A member of the death domain-fold superfamily
-
Fairbrother WJ, Gordon NC, Humke EW, O'Rourke KM, Starovasnik MA, Yin JP et al. The Pyrin domain: A member of the death domain-fold superfamily. Protein Sci. 2001; 10: 1911-1918.
-
(2001)
Protein Sci
, vol.10
, pp. 1911-1918
-
-
Fairbrother, W.J.1
Gordon, N.C.2
Humke, E.W.3
O'Rourke, K.M.4
Starovasnik, M.A.5
Yin, J.P.6
-
22
-
-
11144333066
-
Fire and death: The pyrin domain joins the death-domain superfamily
-
Kohl A, Grutter MG. Fire and death: The pyrin domain joins the death-domain superfamily. C R Biol 2004; 327: 1077-1086.
-
(2004)
C R Biol
, vol.327
, pp. 1077-1086
-
-
Kohl, A.1
Grutter, M.G.2
-
23
-
-
0035916324
-
The pyrin domain: A possible member of the death domain-fold family implicated in apoptosis and inflammation
-
Martinon F, Hofmann K, Tschopp J. The pyrin domain: A possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001; 11: R118-R120.
-
(2001)
Curr Biol
, vol.11
-
-
Martinon, F.1
Hofmann, K.2
Tschopp, J.3
-
24
-
-
0036671894
-
The inflammasome: A molecular platform triggering - activation of inflammatory caspases and processing of prolL-beta
-
Martinon F, Burns K, Tschopp J. The inflammasome: A molecular platform triggering - activation of inflammatory caspases and processing of prolL-beta. Mol Cell 2002; 10: 417-426.
-
(2002)
Mol Cell
, vol.10
, pp. 417-426
-
-
Martinon, F.1
Burns, K.2
Tschopp, J.3
-
25
-
-
0034831010
-
Expression of apoptosis-associated speck-like protein containing a caspase recruitment domain, a pyrin N-terminal homology domain-containing protein, in normal human tissues
-
Masumoto J, Taniguchi S, Nakayama J, Shiohara M, Hidaka E, Katsuyama T et al. Expression of apoptosis-associated speck-like protein containing a caspase recruitment domain, a pyrin N-terminal homology domain-containing protein, in normal human tissues. J Histochem Cytochem 2001; 49: 1269-1275.
-
(2001)
J Histochem Cytochem
, vol.49
, pp. 1269-1275
-
-
Masumoto, J.1
Taniguchi, S.2
Nakayama, J.3
Shiohara, M.4
Hidaka, E.5
Katsuyama, T.6
-
26
-
-
30844432876
-
Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization
-
Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ 2005; 13: 236-249.
-
(2005)
Cell Death Differ
, vol.13
, pp. 236-249
-
-
Yu, J.W.1
Wu, J.2
Zhang, Z.3
Datta, P.4
Ibrahimi, I.5
Taniguchi, S.6
-
27
-
-
0037436868
-
Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product
-
Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 2003; 302: 575-580.
-
(2003)
Biochem Biophys Res Commun
, vol.302
, pp. 575-580
-
-
Dowds, T.A.1
Masumoto, J.2
Chen, F.F.3
Ogura, Y.4
Inohara, N.5
Nunez, G.6
-
28
-
-
0037470744
-
ASC is an activating adaptor for NF-kappa B and caspase-8-dependent apoptosis
-
Masumoto J, Dowds TA, Schaner P, Chen FF, Ogura Y, Li M et al. ASC is an activating adaptor for NF-kappa B and caspase-8-dependent apoptosis. Biochem Biophys Res Commun 2003; 303: 69-73.
-
(2003)
Biochem Biophys Res Commun
, vol.303
, pp. 69-73
-
-
Masumoto, J.1
Dowds, T.A.2
Schaner, P.3
Chen, F.F.4
Ogura, Y.5
Li, M.6
-
29
-
-
17744371839
-
The tripartite motif family identifies cell compartments
-
Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L et al. The tripartite motif family identifies cell compartments. EMBO J 2001; 20: 2140-2151.
-
(2001)
EMBO J
, vol.20
, pp. 2140-2151
-
-
Reymond, A.1
Meroni, G.2
Fantozzi, A.3
Merla, G.4
Cairo, S.5
Luzi, L.6
-
30
-
-
1542288934
-
The cytoplasmic body component TRIM5alpha restricts HIV-1 infection in Old World monkeys
-
Stremlau M, Owens CM, Perron MJ, Kiessling M, Autissier P, Sodroski J. The cytoplasmic body component TRIM5alpha restricts HIV-1 infection in Old World monkeys. Nature 2004; 427: 848-853.
-
(2004)
Nature
, vol.427
, pp. 848-853
-
-
Stremlau, M.1
Owens, C.M.2
Perron, M.J.3
Kiessling, M.4
Autissier, P.5
Sodroski, J.6
-
31
-
-
3242720240
-
Trim5alpha protein restrict both HIV-1 and murine leukemia virus
-
Yap MW, Nisole S, Lynch C, Stoye JP. Trim5alpha protein restrict both HIV-1 and murine leukemia virus. Proc Natl Acad Sci USA 2004; 101: 10786-10791.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 10786-10791
-
-
Yap, M.W.1
Nisole, S.2
Lynch, C.3
Stoye, J.P.4
-
32
-
-
33745631232
-
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
-
Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006; 103: 9982-9987.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 9982-9987
-
-
Chae, J.J.1
Wood, G.2
Masters, S.L.3
Richard, K.4
Park, G.5
Smith, B.J.6
-
33
-
-
0036671894
-
The inflammasome. A molecular platform triggering activation of inflammatory caspases and processing of prolL-beta
-
Martinon F, Burns K, Tschopp J. The inflammasome. A molecular platform triggering activation of inflammatory caspases and processing of prolL-beta. Mol Cell 2002; 10: 417.
-
(2002)
Mol Cell
, vol.10
, pp. 417
-
-
Martinon, F.1
Burns, K.2
Tschopp, J.3
-
34
-
-
0037349294
-
Targeted disruption of Pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
-
Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP et al. Targeted disruption of Pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003; 11: 591-604.
-
(2003)
Mol Cell
, vol.11
, pp. 591-604
-
-
Chae, J.J.1
Komarow, H.D.2
Cheng, J.3
Wood, G.4
Raben, N.5
Liu, P.P.6
-
35
-
-
33749587661
-
The estrogen-responsive B box protein: A novel enhancer of interleukin-1beta secretion
-
Munding C, Keller M, Niklaus G, Papin S, Tschopp J, Werner S et al. The estrogen-responsive B box protein: A novel enhancer of interleukin-1beta secretion. Cell Death Differ 2006; 13: 1938-1949.
-
(2006)
Cell Death Differ
, vol.13
, pp. 1938-1949
-
-
Munding, C.1
Keller, M.2
Niklaus, G.3
Papin, S.4
Tschopp, J.5
Werner, S.6
-
36
-
-
0033754004
-
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
-
Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Genevieve D, Mndjoyan E et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000; 67: 1136-1143.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1136-1143
-
-
Cazeneuve, C.1
Ajrapetyan, H.2
Papin, S.3
Roudot-Thoraval, F.4
Genevieve, D.5
Mndjoyan, E.6
-
37
-
-
0031814513
-
Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
-
Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 1998; 77: 268-297.
-
(1998)
Medicine (Baltimore)
, vol.77
, pp. 268-297
-
-
Samuels, J.1
Aksentijevich, I.2
Torosyan, Y.3
Centola, M.4
Deng, Z.5
Sood, R.6
-
38
-
-
0344823965
-
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
-
Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA 2003; 100: 13501-13506.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 13501-13506
-
-
Shoham, N.G.1
Centola, M.2
Mansfield, E.3
Hull, K.M.4
Wood, G.5
Wise, C.A.6
-
39
-
-
0034084791
-
Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever
-
Chae JJ, Centola M, Aksentijevich I, Dutra A, Tran M, Wood G et al. Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever. Mamm Genome 2000; 11: 428-435.
-
(2000)
Mamm Genome
, vol.11
, pp. 428-435
-
-
Chae, J.J.1
Centola, M.2
Aksentijevich, I.3
Dutra, A.4
Tran, M.5
Wood, G.6
-
40
-
-
0035091156
-
Episodic evolution of pyrin in primates: Human mutations recapitulate ancestral amino acid states
-
Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P et al. Episodic evolution of pyrin in primates: Human mutations recapitulate ancestral amino acid states. Nat Genet 2001; 27 318-321.
-
(2001)
Nat Genet
, vol.27
, pp. 318-321
-
-
Schaner, P.1
Richards, N.2
Wadhwa, A.3
Aksentijevich, I.4
Kastner, D.5
Tucker, P.6
-
41
-
-
0032537836
-
Identification of CARDIAK, a RIP-like kinase that associates with caspase-1
-
Thorne M, Hofmann K, Burns K, Martinon F, Bodmer JL, Mattmann C et al. Identification of CARDIAK, a RIP-like kinase that associates with caspase-1. Curr Biol 1998; 8: 885-888.
-
(1998)
Curr Biol
, vol.8
, pp. 885-888
-
-
Thorne, M.1
Hofmann, K.2
Burns, K.3
Martinon, F.4
Bodmer, J.L.5
Mattmann, C.6
|