Associated Papers
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
39930093 (PubMed )
Supplement: 41590_2025_2088_MOESM3_ESM.xlsx › Table_1
De-coding genetic risk variants in type 1 diabetes.
Shapiro MR et al.
Immunology and Cell Biology, 2021
An updated review on phenocopies of primary immunodeficiency diseases.
Singh A et al.
Genes & Diseases, 2020
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Labrousse M et al.
Critical Reviews in Clinical Laboratory Sciences, 2018
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Nakagawa K et al.
Annals of the Rheumatic Diseases, 2015
Enhanced chondrogenesis of induced pluripotent stem cells from patients with neonatal-onset multisystem inflammatory disease occurs via the caspase 1-independent cAMP/protein kinase A/CREB pathway.
Yokoyama K et al.
Arthritis & Rheumatology (hoboken, N.j.), 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.
Tanaka T et al.
Blood, 2012
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N et al.
Arthritis and Rheumatism, 2011
The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity.
Kambe N et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2010
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
Saito M et al.
Blood, 2008
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