Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.Y563N
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NLRP3

NM_001243133.2:p.Y563N

Associated Papers

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.

Feng S et al.

Nature Immunology, 2025

The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.

Putnam CD et al.

Immunological Reviews, 2024

Cryo-sensitive aggregation triggers NLRP3 inflammasome assembly in cryopyrin-associated periodic syndrome.

Karasawa T et al.

Elife, 2022

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.

Moltrasio C et al.

Frontiers in Immunology, 2022

Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 2021

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.

Rowczenio DM et al.

Frontiers in Immunology, 2017

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies.

Brydges SD et al.

The Journal of Clinical Investigation, 2013

Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.

Ohnishi H et al.

Journal of Clinical Immunology, 2012

The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report.

Yamauchi A et al.

The British Journal of Dermatology, 2010

Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia.

Rosengren S et al.

The Journal of Allergy and Clinical Immunology, 2007

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Aksentijevich I et al.

Arthritis and Rheumatism, 2007

Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome.

O'Connell SM et al.

Pediatric Dermatology, 0

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

Cantarini L et al.

International Journal of Immunopathology and Pharmacology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."