These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

387 related articles for article (PubMed ID: 17393462)

  • 1. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
    Aksentijevich I; Putnam CD; Remmers EF; Mueller JL; Le J; Kolodner RD; Moak Z; Chuang M; Austin F; Goldbach-Mansky R; Hoffman HM; Kastner DL
    Arthritis Rheum; 2007 Apr; 56(4):1273-1285. PubMed ID: 17393462
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 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. PubMed ID: 12483741
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 103(7):2809-15. PubMed ID: 14630794
    [TBL] [Abstract][Full Text] [Related]  

  • 4. "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. PubMed ID: 21833523
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 17284928
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cryopyrinopathies: update on pathogenesis and treatment.
    Neven B; Prieur AM; Quartier dit Maire P
    Nat Clin Pract Rheumatol; 2008 Sep; 4(9):481-9. PubMed ID: 18665151
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 338(1):25-34. PubMed ID: 15302403
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cryopyrin activates the inflammasome in response to toxins and ATP.
    Mariathasan S; Weiss DS; Newton K; McBride J; O'Rourke K; Roose-Girma M; Lee WP; Weinrauch Y; Monack DM; Dixit VM
    Nature; 2006 Mar; 440(7081):228-32. PubMed ID: 16407890
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 18174231
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nonclassic neurologic features in cryopyrin-associated periodic syndromes.
    Ting TV; Scalzi LV; Hashkes PJ
    Pediatr Neurol; 2007 May; 36(5):338-41. PubMed ID: 17509468
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    Nat Genet; 2001 Nov; 29(3):301-5. PubMed ID: 11687797
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 15593220
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells.
    Fujisawa A; Kambe N; Saito M; Nishikomori R; Tanizaki H; Kanazawa N; Adachi S; Heike T; Sagara J; Suda T; Nakahata T; Miyachi Y
    Blood; 2007 Apr; 109(7):2903-11. PubMed ID: 17164343
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.
    Hu J; Zhu Y; Zhang JZ; Zhang RG; Li HM
    Chin Med J (Engl); 2017 Mar; 130(5):586-593. PubMed ID: 28229991
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
    Sarrabay G; Grandemange S; Touitou I
    Expert Rev Clin Immunol; 2015; 11(7):827-35. PubMed ID: 25979514
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 14872505
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3.
    Kanneganti TD; Ozören N; Body-Malapel M; Amer A; Park JH; Franchi L; Whitfield J; Barchet W; Colonna M; Vandenabeele P; Bertin J; Coyle A; Grant EP; Akira S; Núñez G
    Nature; 2006 Mar; 440(7081):233-6. PubMed ID: 16407888
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
    Hentgen V; Despert V; Leprêtre AC; Cuisset L; Chevrant-Breton J; Jégo P; Chalès G; Gall EL; Delpech M; Grateau G
    J Rheumatol; 2005 Apr; 32(4):747-51. PubMed ID: 15801036
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations.
    Gattorno M; Tassi S; Carta S; Delfino L; Ferlito F; Pelagatti MA; D'Osualdo A; Buoncompagni A; Alpigiani MG; Alessio M; Martini A; Rubartelli A
    Arthritis Rheum; 2007 Sep; 56(9):3138-48. PubMed ID: 17763411
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).
    Koike R; Kubota T; Hara Y; Ito S; Suzuki K; Yanagisawa K; Uchibori K; Miyasaka N
    Mod Rheumatol; 2007; 17(6):496-9. PubMed ID: 18084703
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.