-
1
-
-
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
-
2
-
-
0036745064
-
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
-
[published correction appears in Arthritis Rheum. 2002;46:3398]
-
Aganna E, Martinon F, Hawkins PN, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis [published correction appears in Arthritis Rheum. 2002;46:3398]. Arthritis Rheum. 2002;46:2445-2452.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2445-2452
-
-
Aganna, E.1
Martinon, F.2
Hawkins, P.N.3
-
3
-
-
0001380014
-
A case of cold urticaria with an unusual family history
-
Kile RL, Rusk HA. A case of cold urticaria with an unusual family history. JAMA. 1940;114:1067-1068.
-
(1940)
JAMA
, vol.114
, pp. 1067-1068
-
-
Kile, R.L.1
Rusk, H.A.2
-
4
-
-
73649189052
-
Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome
-
Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235-248.
-
(1962)
Q J Med
, vol.31
, pp. 235-248
-
-
Muckle, T.J.1
Wells, M.2
-
5
-
-
0019425358
-
Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
-
Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr. 1981;99:79-83.
-
(1981)
J Pediatr
, vol.99
, pp. 79-83
-
-
Prieur, A.M.1
Griscelli, C.2
-
6
-
-
0037251380
-
CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes
-
Granel B, Philip N, Serratrice J, et al. CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. Dermatology. 2003;206:257-259.
-
(2003)
Dermatology
, vol.206
, pp. 257-259
-
-
Granel, B.1
Philip, N.2
Serratrice, J.3
-
7
-
-
26944435551
-
Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome
-
Lokuta MA, Cooper KM, Aksentijevich I, Kastner DL, Huttenlocher A. Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. Ann Allergy Asthma Immunol. 2005;95:394-399.
-
(2005)
Ann Allergy Asthma Immunol
, vol.95
, pp. 394-399
-
-
Lokuta, M.A.1
Cooper, K.M.2
Aksentijevich, I.3
Kastner, D.L.4
Huttenlocher, A.5
-
8
-
-
0036899758
-
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
-
Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46:3340-3348.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3340-3348
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
-
9
-
-
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.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
-
10
-
-
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
-
12
-
-
0036657283
-
Fire and ICE: The role of pyrin domain-containing proteins in inflammation and apoptosis
-
Gumucio DL, Diaz A, Schaner P, et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol. 2002;20(suppl 26):S45-S53.
-
(2002)
Clin Exp Rheumatol
, vol.20
, Issue.SUPPL. 26
-
-
Gumucio, D.L.1
Diaz, A.2
Schaner, P.3
-
13
-
-
23444439667
-
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients
-
Stack JH, Beaumont K, Larsen PD, et al. IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. J Immunol. 2005;175:2630-2634.
-
(2005)
J Immunol
, vol.175
, pp. 2630-2634
-
-
Stack, J.H.1
Beaumont, K.2
Larsen, P.D.3
-
14
-
-
0031739525
-
Interleukin-1β, interleukin-18, and the interleukin-1β converting enzyme
-
Dinarello CA. Interleukin-1β, interleukin-18, and the interleukin-1β converting enzyme. Ann N Y Acad Sci. 1998;856:1-11.
-
(1998)
Ann N Y Acad Sci
, vol.856
, pp. 1-11
-
-
Dinarello, C.A.1
-
15
-
-
0037792866
-
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome
-
Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003;348:2583-2584.
-
(2003)
N Engl J Med
, vol.348
, pp. 2583-2584
-
-
Hawkins, P.N.1
Lachmann, H.J.2
McDermott, M.F.3
-
16
-
-
0031754706
-
Analytical evaluation of particle-enhanced immunonephelometric assays for C-reactive protein, serum amyloid A and mannose-binding protein in human serum
-
Ledue TB, Weiner DL, Sipe JD, Poulin SE, Collins MF, Rifai N. Analytical evaluation of particle-enhanced immunonephelometric assays for C-reactive protein, serum amyloid A and mannose-binding protein in human serum. Ann Clin Biochem. 1998;35:745-753.
-
(1998)
Ann Clin Biochem
, vol.35
, pp. 745-753
-
-
Ledue, T.B.1
Weiner, D.L.2
Sipe, J.D.3
Poulin, S.E.4
Collins, M.F.5
Rifai, N.6
-
17
-
-
33845719382
-
Expert Committee on Biological Standardization, 37th Report
-
Geneva, Switzerland: World Health Organization
-
Expert Committee on Biological Standardization, 37th Report. Geneva, Switzerland: World Health Organization; 1987:21-22. WHO Technical Report Series 760.
-
(1987)
WHO Technical Report Series 760
, pp. 21-22
-
-
-
18
-
-
0031839899
-
The first international standard for serum amyloid A protein (SAA): Evaluation in an international collaborative study
-
Poole S, Walker D, Gaines Das RE, Gallimore JR, Pepys MB. The first international standard for serum amyloid A protein (SAA): evaluation in an international collaborative study. J Immunol Methods. 1998;214:1-10.
-
(1998)
J Immunol Methods
, vol.214
, pp. 1-10
-
-
Poole, S.1
Walker, D.2
Gaines Das, R.E.3
Gallimore, J.R.4
Pepys, M.B.5
-
19
-
-
0025773625
-
Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia
-
Talmud P, Tybjaerg-Hansen A, Bhatnagar D, et al. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis. 1991;89:137-141.
-
(1991)
Atherosclerosis
, vol.89
, pp. 137-141
-
-
Talmud, P.1
Tybjaerg-Hansen, A.2
Bhatnagar, D.3
-
21
-
-
0031868122
-
Muckle-Wells syndrome: Case report and review of cutaneous pathology
-
Lieberman A, Grossman ME, Silvers DN. Muckle-Wells syndrome: case report and review of cutaneous pathology. J Am Acad Dermatol. 1998;39:290-291.
-
(1998)
J Am Acad Dermatol
, vol.39
, pp. 290-291
-
-
Lieberman, A.1
Grossman, M.E.2
Silvers, D.N.3
-
22
-
-
13444291902
-
Neonatalonset multisystem inflammatory disorder: The emerging role of pyrin genes in autoinflammatory diseases
-
Kilcline C, Shinkai K, Bree A, Modica R. Von Scheven E. Frienden IJ. Neonatalonset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Arch Dermatol. 2005;141:248-253.
-
(2005)
Arch Dermatol
, vol.141
, pp. 248-253
-
-
Kilcline, C.1
Shinkai, K.2
Bree, A.3
Modica, R.4
Von Scheven, E.5
Frienden, I.J.6
-
23
-
-
0032918632
-
Serum amyloid A (SAA): A concise review of biology, assay methods and clinical usefulness
-
Yamada T. Serum amyloid A (SAA): a concise review of biology, assay methods and clinical usefulness. Clin Chem Lab Med. 1999;37:381-388.
-
(1999)
Clin Chem Lab Med
, vol.37
, pp. 381-388
-
-
Yamada, T.1
-
24
-
-
4344665106
-
Male genital tract inflammation: The role of selected interleukins in regulation of prooxidant and antioxidant enzymatic substances in seminal plasma
-
Sanocka D, Jedrzejczak P, Szumala-Kaekol A, Fraczek M, Kurpisz M. Male genital tract inflammation: the role of selected interleukins in regulation of prooxidant and antioxidant enzymatic substances in seminal plasma. J Androl. 2003;24:448-455.
-
(2003)
J Androl
, vol.24
, pp. 448-455
-
-
Sanocka, D.1
Jedrzejczak, P.2
Szumala-Kaekol, A.3
Fraczek, M.4
Kurpisz, M.5
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