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Items: 1 to 20 of 133

1.
2.

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD.

Hum Genet. 2003 Feb;112(2):209-16. Epub 2002 Nov 16.

PMID:
12522564
3.

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

Shalev SA, Sprecher E, Indelman M, Hujirat Y, Bergman R, Rottem M.

Int Arch Allergy Immunol. 2007;143(3):190-3. Epub 2007 Feb 6.

PMID:
17284928
4.

A fever gene comes in from the cold.

Kastner DL, O'Shea JJ.

Nat Genet. 2001 Nov;29(3):241-2. No abstract available.

PMID:
11687785
5.

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G.

Am J Hum Genet. 2002 Jun;70(6):1498-506. Epub 2002 Apr 25.

6.

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, Lachmann HJ, Bybee A, Gaudet R, Woo P, Feighery C, Cotter FE, Thome M, Hitman GA, Tschopp J, McDermott MF.

Arthritis Rheum. 2002 Sep;46(9):2445-52. Erratum in: Arthritis Rheum 2002 Dec;46(12):3398.

7.

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, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R.

Arthritis Rheum. 2002 Dec;46(12):3340-8.

8.

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.

Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, Letellier E, Grateau G, Morin AS, Fain O.

Rheumatology (Oxford). 2008 Mar;47(3):309-10. doi: 10.1093/rheumatology/kem318. Epub 2008 Jan 3.

PMID:
18174231
9.

[Syndrome of Muckle-Wells and autoinflammatory familiar syndrome induced by cold].

Calvo Penadés I, López Montesinos B, Marco Puche A.

Med Clin (Barc). 2011 Jan;136 Suppl 1:16-21. doi: 10.1016/S0025-7753(11)70004-5. Review. Spanish.

PMID:
21596182
10.

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations.

Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL.

Curr Opin Rheumatol. 2003 Jan;15(1):61-9. Review.

PMID:
12496512
11.

A large kindred with familial cold autoinflammatory syndrome.

Johnstone RF, Dolen WK, Hoffman HM.

Ann Allergy Asthma Immunol. 2003 Feb;90(2):233-7.

PMID:
12602672
12.

Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis.

Gumucio DL, Diaz A, Schaner P, Richards N, Babcock C, Schaller M, Cesena T.

Clin Exp Rheumatol. 2002 Jul-Aug;20(4 Suppl 26):S45-53. Review.

PMID:
12371636
13.

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.

Hawkins PN, Lachmann HJ, Aganna E, McDermott MF.

Arthritis Rheum. 2004 Feb;50(2):607-12.

14.

Inherited autoinflammatory recurrent fevers.

Pradalier A, Cauvain A, Oukachbi Z.

Eur Ann Allergy Clin Immunol. 2006 Jan;38(1):5-9. Review.

PMID:
16544581
15.

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G.

Blood. 2004 Apr 1;103(7):2809-15. Epub 2003 Nov 20.

16.

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

Aróstegui JI, Aldea A, Modesto C, Rua MJ, Argüelles F, González-Enseñat MA, Ramos E, Rius J, Plaza S, Vives J, Yagüe J.

Arthritis Rheum. 2004 Dec;50(12):4045-50.

17.

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.

Pörksen G, Lohse P, Rösen-Wolff A, Heyden S, Förster T, Wendisch J, Heubner G, Bernuth H, Sallmann S, Gahr M, Roesler J.

Eur J Haematol. 2004 Aug;73(2):123-7.

PMID:
15245511
18.

Structural, expression, and evolutionary analysis of mouse CIAS1.

Anderson JP, Mueller JL, Rosengren S, Boyle DL, Schaner P, Cannon SB, Goodyear CS, Hoffman HM.

Gene. 2004 Aug 18;338(1):25-34.

19.

"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies.

Hedrich CM, Bruck N, Paul D, Hahn G, Gahr M, Rösen-Wolff A.

Rheumatol Int. 2012 Sep;32(9):2629-36. doi: 10.1007/s00296-011-2019-3. Epub 2011 Jul 22.

PMID:
21833523
20.

The autoinflammatory syndromes.

McDermott MF, Aksentijevich I.

Curr Opin Allergy Clin Immunol. 2002 Dec;2(6):511-6. Review.

PMID:
14752334

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