Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.C259W
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NLRP3

NM_001243133.2:p.C259W

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

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

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 2021

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Samson JM et al.

Frontiers in Immunology, 2020

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

Chronic urticaria in infants as the first manifestation of autoinflammatory disease.

Latour I et al.

Pediatric Dermatology, 2018

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

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

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

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."