Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.E306K
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NLRP3

NM_004895.5:p.E306K

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Zinterl C et al.

Journal of Multidisciplinary Healthcare, 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

Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra.

Kim BJ et al.

Rheumatology (oxford, England), 2021

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

Retinal and choroidal circulation determined by optical coherence tomography angiography in patient with amyloidosis.

Tei M et al.

Bmj Case Reports, 2019

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 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

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication.

Galozzi P et al.

Frontiers in Immunology, 2017

Cryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.

Mehr S et al.

Journal of Paediatrics and Child Health, 2016

A case of cryopyrin-associated periodic syndrome with kidney transplant failure.

Imaizumi R et al.

Cen Case Reports, 2015

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

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

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."