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…
By I. Aksentijevich, M. Nowak, Mustapha Mallah, J. Chae, W. Watford, S. Hofmann, L. Stein, R. Russo, D. Goldsmith, P. Dent and 21 more. Arthritis & Rheumatism, 2002
716 citations recorded by the source corpus.
Subfields: Hematology, Immunology, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/7e7ac3028189c905323521685d88f749a90b1573
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In Hematology
In Immunology
- Shizuo Akira
- Satoshi Uematsu
- Jacques Banchereau
- V. Pascual
- C. A. Dinarello
- T. Mak
- T. Berger
- David Mcilwain
In Molecular Biology
- Satoshi Uematsu
- Shizuo Akira
- C. A. Dinarello
- Daniel L. Kastner
- Jacques Banchereau
- A. Simon
- I. Aksentijevich
- S. Masters
Citations in the corpus
- Toll-like receptors and innate immunity (2006, background): “NALP3/cryopyrin/CIAS1 is associated with three autoinflammatory syndromes: familial-cold autoinflammatory syndrome, Muckle–Wells syndrome, and neonatal-onset multisystem inflammatory disease [96, 97].”
- Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). (2009, background): “Although the inflammasome is also required for processing of IL-18, IL-33, and several other nontraditionally secreted proteins (43), most research has focused on how NLRP3 mutations affect IL-1β production, and certainly IL-1β is upregulated in this disease (15).”
- Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade (2005, background): “Furthermore, IL-1b is involved in the pathogenesis of familial autoinflammatory syndromes (22, 23), and blocking IL-1 with IL-1Ra resolves the clinical symptoms that are associated with mutations in the NALP3/ cryopyrin gene (Muckle-Wells syndrome and neonatal onset multisystem inflammatory disease/”
- Caspase functions in cell death and disease. (2013, background): “Mutations in NLRP3 cause three rare inherited autoinflammatory diseases known collectively as cryopyrin-associated periodic syndromes (CAPS) (Hoffman et al. 2001; Aksentijevich et al. 2002; Feldmann et al. 2002).”