-
2
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
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
-
-
-
3
-
-
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, 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
-
4
-
-
0034857603
-
The PYRIN domain: A member of the death domain-fold superfamily
-
Fairbrother WJ, Gordon NC, Humke EW, et al. The PYRIN domain: a member of the death domain-fold superfamily. Protein Sci 2001; 10:1911-1918. This elegant study describes the use of secondary structure prediction and potential-based fold recognition methods to predict that the PYRIN domain is a member of the six-helix bundle death domain-fold superfamily.
-
(2001)
Protein Sci
, vol.10
, pp. 1911-1918
-
-
Fairbrother, W.J.1
Gordon, N.C.2
Humke, E.W.3
-
5
-
-
0035914452
-
Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis
-
Richards N, Schaner P, Diaz A, et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001; 276:39320-39329. This interesting study shows that exons 1 of both pyrin and ASC have 42% sequence similarity and resemble death domain-related structures in computer modeling studies. Pyrin is linked via ASC to apoptosis pathways.
-
(2001)
J Biol Chem
, vol.276
, pp. 39320-39329
-
-
Richards, N.1
Schaner, P.2
Diaz, A.3
-
6
-
-
0035189451
-
A fever gene comes in from the cold
-
Kastner DL, O'Shea JJ. A fever gene comes in from the cold. Nat Genet 2001; 29:241-242. This is a succinct commentary on the discovery of the MWS/FCU/FCAS gene, with a clear figure showing the homology relationships between the different members of the pyrin superfamily of proteins.
-
(2001)
Nat Genet
, vol.29
, pp. 241-242
-
-
Kastner, D.L.1
O'Shea, J.J.2
-
7
-
-
0036671894
-
The inflammasome: A molecular platform triggering activation of inflammatory caspases and processing of proIL-beta
-
Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 2002; 10:1-20. This detailed and elegant study describes the pivotal role of Pycard/Asc in proinflammatory responses.
-
(2002)
Mol Cell
, vol.10
, pp. 1-20
-
-
Martinon, F.1
Burns, K.2
Tschopp, J.3
-
8
-
-
0037077283
-
The PYRIN-CARD protein ASC is an activating adaptor for caspase-1
-
Srinivasula SM, Poyet JL, Razmara M, et al. The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. J Biol Chem 2001; 277:21119-21122. The PYRIN domain is shown to function as an oligomerization domain, whereas the CARD domain is the effector domain in the caspase-1 activation pathway. ASC mediates the assembly of a caspase-l-inflammasome signaling complex in response to proinflammatory cytokine stimulation.
-
(2001)
J Biol Chem
, vol.277
, pp. 21119-21122
-
-
Srinivasula, S.M.1
Poyet, J.L.2
Razmara, M.3
-
9
-
-
0037192793
-
PYPAF1: A PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-κB
-
Manji GA, Wang L, Geddes BJ, et al. PYPAF1: a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-κB. J Biol Chem 2002; 277:11570-11575. The first study to identify downstream signaling partners of PYPAF1 (also termed cryopyrin or NALP3). A mammalian two-hybrid screen identified ASC as a pyrin-containing protein that interacted homotypically with the pyrin domain of PYPAF1, and recruited PYPAF1 to distinct cytoplasmic loci with activation of NFκB.
-
(2002)
J Biol Chem
, vol.277
, pp. 11570-11575
-
-
Manji, G.A.1
Wang, L.2
Geddes, B.J.3
-
10
-
-
12244280315
-
Mice deficient in pyrin, the FMF protein, show increased sensitivity to endotoxin through a new pathway regulating IL-1 activation and apoptosis
-
in press
-
Chae JJ, Cheng J, Komarow H, et al. Mice deficient in pyrin, the FMF protein, show increased sensitivity to endotoxin through a new pathway regulating IL-1 activation and apoptosis. Arth Rheum (in press).
-
Arth Rheum
-
-
Chae, J.J.1
Cheng, J.2
Komarow, H.3
-
11
-
-
0037091012
-
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
-
Wise CA, Gillum JD, Seidman CE, etal. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 2002; 11:961-969. This is a thought-provoking report of the genetic defect in PAPA syndrome, which suggests that it is an autoinflammatory disease.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 961-969
-
-
Wise, C.A.1
Gillum, J.D.2
Seidman, C.E.3
-
12
-
-
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, Brodie DH, et al. 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. This is the first report of distinct mutations in a gene, denoted as CIAS1, in affected members of three families with FCAS and one family with MWS CIAS1 was found to be expressed in peripheral blood leukocytes.
-
(2001)
Nat Genet
, vol.29
, pp. 301-305
-
-
Hoffman, H.M.1
Mueller, J.L.2
Brodie, D.H.3
-
13
-
-
18344385660
-
New mutations of C1AS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
-
Dodé C, Le Du N, Cuisset L, et al. New mutations of C1AS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002; 43:1535-1542. CIAS1 mutations, all located in exon 3, were identified in nine unrelated families with MWS and in three unrelated families with FCU. A single CIAS1 mutation (R260W) was shown to cause both syndromes.
-
(2002)
Am J Hum Genet
, vol.43
, pp. 1535-1542
-
-
Dodé, C.1
Le Du, N.2
Cuisset, L.3
-
14
-
-
0036745064
-
Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with a broad phenotype including recurrent fevers, cold sensitivity, sensorineural deafness and AA amyloidosis
-
Aganna E, Martinon F, Hawkins PN, et al. Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with a broad phenotype including recurrent fevers, cold sensitivity, sensorineural deafness and AA amyloidosis. Arth Rheum 2002; 46:2445-2452. Mutations located in exon 3 of NALP3/CIAS1/PYPAF1 were identified in an Indian family with overlap MWS/FCU/FCAS as well as unrelated families with MWS and FCU. The NALP3 nomenclature has been proposed instead of CIAS1, in view of the large number of homologous NALP genes in humans (at least 14).
-
(2002)
Arth Rheum
, vol.46
, pp. 2445-2452
-
-
Aganna, E.1
Martinon, F.2
Hawkins, P.N.3
-
15
-
-
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, 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. This is the first report that mutations in exon 3 of CIAS1 are associated with susceptibility to CINCA/NOMID. High levels of expression of cryopyrin were restricted to polymorphonuclear cells and chondrocytes.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
-
16
-
-
12244309397
-
De novo germ line mutations in CIAS1 establish NOMID/CINCA in the spectrum of genetic disorders in the pyrin family
-
in press
-
Aksentijevich I, Nowak M, Mallah M et al. De novo germ line mutations in CIAS1 establish NOMID/CINCA in the spectrum of genetic disorders in the pyrin family. Arth Rheum (in press).
-
Arth Rheum
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
-
17
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411:599-603. This is one of the first reports in which the positional cloning method was successfully used to identify a susceptibility gene in a complex genetic disease, that is NOD2 in Crohn's disease. This breakthrough study may become a model for the study of other complex genetic diseases.
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
-
18
-
-
0035978533
-
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
-
Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001; 411:603-606. This is a complementary article to Hugot et al. [17••], which reports on a positional candidate gene approach leading to the identification of NOD2 variants in Crohn's disease. Preliminary functional studies have led to speculation about the role of NOD2 in innate immunity to enteric pathogens.
-
(2001)
Nature
, vol.411
, pp. 603-606
-
-
Ogura, Y.1
Bonen, D.K.2
Inohara, N.3
-
19
-
-
0036105388
-
The genetic jigsaw of inflammatory bowel disease
-
Watts DA, Satsangi J. The genetic jigsaw of inflammatory bowel disease. Gut 2002; 50 (Suppl 3):31-36. A comprehensive review of the complexities of genetic susceptibility to Crohn's disease.
-
(2002)
Gut
, vol.50
, Issue.SUPPL. 3
, pp. 31-36
-
-
Watts, D.A.1
Satsangi, J.2
-
20
-
-
0036160150
-
Nods: A family of cytosolic proteins that regulate the host response to pathogens
-
Inohara N, Ogura Y, Nunez G. Nods: a family of cytosolic proteins that regulate the host response to pathogens. Curr Opin Microbiol 2002; 5:76-80. This review proposes a model whereby mutant NOD2 is deficient in induction of lipopolysaccharide.mediated NF-κB activation and therefore incapable of controlling bacterial growth of luminal flora, which in turn may lead to abnormal T-cell-mediated responses, tissue inflammation and aberrant cytokine production.
-
(2002)
Curr Opin Microbiol
, vol.5
, pp. 76-80
-
-
Inohara, N.1
Ogura, Y.2
Nunez, G.3
-
21
-
-
0037062228
-
Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: A cohort study
-
Hampe J, Grebe J, Nikolaus S, et al. Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet 2002; 359:1661-1665. This is a report on genotype-phenotype analysis of the three major NOD2 variants (R702W, G908R and 007fs) in a cohort of over 500 Crohn's disease patients from Germany and Norway. The reported association of 1007fs with ileal and right-colonic disease supports a hypothetical Crohn's disease pathogenesis model, as well as the role of intestinal flora.
-
(2002)
Lancet
, vol.359
, pp. 1661-1665
-
-
Hampe, J.1
Grebe, J.2
Nikolaus, S.3
-
22
-
-
0036201577
-
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease
-
Lesage S, Zouali H, Cezard JP, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002; 70:845-857. This is a comprehensive report of NOD2 mutations and genotype-phenotype correlation in 612 patients with IBD (both Crohn's disease and ulcerative colitis). A total of 67 NOD2 variants were analysed, and R702W, G908R, and 1007fs were found to be the most common NOD2 variants predisposing to Crohn's disease.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 845-857
-
-
Lesage, S.1
Zouali, H.2
Cezard, J.P.3
-
24
-
-
0036080129
-
The c-insertion mutation of the NOD2 gene is associated with fistulizing and fibrostenotic phenotype in Crohn's disease
-
Radlmayr M, Torok HP, Martin K, Folwaczny C. The c-insertion mutation of the NOD2 gene is associated with fistulizing and fibrostenotic phenotype in Crohn's disease. Gastroenterology 2002; 122:2091-2092.
-
(2002)
Gastroenterology
, vol.122
, pp. 2091-2092
-
-
Radlmayr, M.1
Torok, H.P.2
Martin, K.3
Folwaczny, C.4
-
25
-
-
17944372335
-
CARD15 mutations in Blau syndrome
-
Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001; 29:19-20. This study describes the presence of mutations in the NACHT/NBS domain of NOD2 leading to Blau syndrome, which is inherited as a monogenic autosomal dominant disease, and despite being a granulomatous disease, has a very different phenotype from Crohn's disease.
-
(2001)
Nat Genet
, vol.29
, pp. 19-20
-
-
Miceli-Richard, C.1
Lesage, S.2
Rybojad, M.3
-
26
-
-
18444395237
-
Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-kappaB transcription factors
-
Van Heel DA, Udalova IA, De Silva AP, et al. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-kappaB transcription factors. Hum Mol Genet 2002; 11:1281-1289. This study describes the association of a TNF promoter single nucleotide polymorphism in IBD patients not carrying the common NOD2 mutations. Functional analysis showed abrogation of binding of the NFκB inhibitory transcription factor, OCT1, to the TNF promoter in the presence of this single nucleotide polymorphism.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1281-1289
-
-
Van Heel, D.A.1
Udalova, I.A.2
De Silva, A.P.3
-
27
-
-
0032717296
-
Crohn's disease is associated with novel polymorphisms in the 5′-flanking region of the tumor necrosis factor gene
-
Negoro K, Kinouchi Y, Hiwatashi N, et al. Crohn's disease is associated with novel polymorphisms in the 5′-flanking region of the tumor necrosis factor gene. Gastroenterology 1999; 117:1062-1068.
-
(1999)
Gastroenterology
, vol.117
, pp. 1062-1068
-
-
Negoro, K.1
Kinouchi, Y.2
Hiwatashi, N.3
-
28
-
-
0034785352
-
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
-
Rioux JD, Daly MJ, Silverberg MS, et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001; 29:223-228. LD mapping, using dense genetic maps of microsatellite markers and (SNPs), defined the boundaries of the critical region for IBD5. This study represents an excellent example of the LD mapping approach, which could be utilized for other complex genetic diseases.
-
(2001)
Nat Genet
, vol.29
, pp. 223-228
-
-
Rioux, J.D.1
Daly, M.J.2
Silverberg, M.S.3
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