Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

By H. Hoffman, James L. Mueller, D. Broide, A. Wanderer, R. Kolodner. Nature Genetics, 2001

1,649 citations recorded by the source corpus.

Subfields: Molecular Biology, Physiology, Rheumatology

View Paper: https://www.semanticscholar.org/paper/45f0cc1bcb2a237e3f6bba2cb17818dc7b76b0ec

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In Molecular Biology

1. J. Tschopp
2. C. A. Dinarello
3. M. Lamkanfi
4. T. Kanneganti
5. V. Dixit
6. E. Latz
7. Shizuo Akira
8. Fabio Martinon

In Physiology

1. C. A. Dinarello
2. J. Tschopp
3. M. Lamkanfi
4. Peter Libby
5. Jeffery L. Dangl
6. V. Dixit
7. Haitao Wen
8. T. Mak

In Rheumatology

1. C. A. Dinarello
2. Peter Libby
3. J. O’Shea
4. P. Ridker
5. Shizuo Akira

Citations in the corpus

• Interleukin-1β inhibition and the prevention of recurrent cardiovascular events: rationale and design of the Canakinumab Anti-inflammatory Thrombosis Outcomes Study (CANTOS). (2011, background): “First, specific amino acid mutations altering the NLRP3 inflammasome can increase secretion of IL-1β and result in a group of autoinflammatory disorders including cryopyrin-associated periodic syndrome (CAPS), neonatal-onset multisystem inflammatory disease, and Muckle-Wells syndrome.(30) These cond”
• Glyburide inhibits the Cryopyrin/Nalp3 inflammasome (2009, background): “We sought confirmatory evidence using human peripheral blood mononuclear cells (PBMCs) from individuals afflicted with familial cold-associated autoinflammatory syndrome (FCAS), a disorder resulting from a temperature-sensitive (L353P) mutation within Cryopyrin (Hoffman et al., 2001).”
• Mechanisms and functions of inflammasomes. (2014, background): “Wellstudied examples are the cryopyrin-associated periodic fever syndromes (CAPS), which include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurological cutaneous and articular syndrome/ neonatal onset multisystem inflammatory disease (CINCA/ N”
• Upregulated NLRP3 Inflammasome Activation in Patients With Type 2 Diabetes (2012, background): “The NLRP3 inflammasome has been the focus of particular attention with regard to its roles in inflammatory responses, antimicrobial responses, and a variety of human diseases, including hereditary autoinflammatory syndromes, atherosclerosis, and diabetes (7,22,30,31).”
• Genome-Wide Analysis of NBS-LRR–Encoding Genes in Arabidopsis Online version contains Web-only data. Article, publication date, and citation information can be found at www.plantcell.org/cgi/doi/10.1105/tpc.009308. (2003, background): “…these proteins have been implicated in autoinflammatory diseases, suggesting that NBS-LRR proteins may be involved directly in the regulation of programmed cell death and innate immune responses in animals (Hoffman et al., 2001; Hugot et al., 2001; Miceli-Richard et al., 2001; Ogura et al., 2001).”
• Intracellular innate immune surveillance devices in plants and animals (2016, background): “These syndromes can be more severe at cold temperatures in both plants and animals, resulting in chilling sensitive ectopic cell death in plants and familial cold autoinflammatory syndrome (FCAS) in humans (37, 38).”
• The Inflammasome NLRs in Immunity, Inflammation, and Associated Diseases (2011, background): “HSP90 and SGT1 have been shown to interact with NLRP3 LRRs to maintain an inactive but stabilized structure (16).”