Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.F523C
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NLRP3

NM_001243133.2:p.F523C

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

HSP90β controls NLRP3 autoactivation.

Spel L et al.

Science Advances, 2024

38416826 (PubMed )
Supplement: sciadv.adj6289_sm.pdf

The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.

Wu N et al.

Clinical Rheumatology, 2023

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

Neurology of the cryopyrin-associated periodic fever syndrome.

Parker T et al.

European Journal of Neurology, 2016

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).

Chang Z et al.

Arthritis & Rheumatology (hoboken, N.j.), 2014

Impaired cytokine responses in patients with cryopyrin-associated periodic syndrome (CAPS).

Haverkamp MH et al.

Clinical and Experimental Immunology, 2014

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

Lee GS et al.

Nature, 2012

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

Brydges SD et al.

Immunity, 2009

The anesthetic management of children with neonatal-onset multi-system inflammatory disease.

Lauro CF et al.

Anesthesia and Analgesia, 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

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

Shalev SA et al.

International Archives of Allergy and Immunology, 2007

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).

Koike R et al.

Modern Rheumatology, 2007

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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."