Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.N477K
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NLRP3

NM_001243133.2:p.N477K

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

Novel chemotype NLRP3 inhibitors that target the CRID3-binding pocket with high potency.

Vande Walle L et al.

Life Science Alliance, 2024

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

Putnam CD et al.

Immunological Reviews, 2024

HSP90β controls NLRP3 autoactivation.

Spel L et al.

Science Advances, 2024

38416826 (PubMed )
Supplement: sciadv.adj6289_sm.pdf

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

Graustein AD et al.

American Journal of Respiratory Cell and Molecular Biology, 2021

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.

Sözeri B et al.

Clinical Rheumatology, 2021

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.

Bertoni A et al.

The Journal of Allergy and Clinical Immunology, 2020

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction.

Ito S et al.

Arthritis Research & Therapy, 2014

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.

Izawa K et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 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

Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients.

Lasigliè D et al.

Plos One, 2011

Diagnosis and management of autoinflammatory diseases in childhood.

Gattorno M et al.

Journal of Clinical Immunology, 2008

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

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.

Takada H et al.

European Journal of Pediatrics, 2005

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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."