Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.V262A
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NLRP3

NM_001243133.2:p.V262A

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

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

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

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.

Maksimovic L et al.

Rheumatology (oxford, England), 2008

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 probable case of Muckle-Wells syndrome.

Kagami S et al.

The Journal of Dermatology, 2006

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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."