Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.Q703K
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NLRP3

NM_001243133.2:p.Q703K

Associated Papers

Sensorineural hearing loss in anti-interleukin-1 treated CAPS patients: risk factors and real-life barriers-an observational study.

Satirer Ö et al.

Rheumatology (oxford, England), 2025

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.

Wu S et al.

The Journal of Allergy and Clinical Immunology, 2025

Neurological involvement in children with familial Mediterranean fever: a systematic review.

La Bella S et al.

Pediatric Rheumatology Online Journal, 2025

Rapid validation of NLRP3 gain-of-function variants in cryopyrin-associated periodic syndromes.

Quach A et al.

The Journal of Allergy and Clinical Immunology, 2025

Refining treat-to-target strategies in cryopyrin-associated periodic syndromes: the role of inflammatory markers.

Satirer Ö et al.

Rheumatology (oxford, England), 2025

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

Feng S et al.

Nature Immunology, 2025

Unraveling the NLRP family: Structure, function, activation, critical influence on tumor progression, and potential as targets for cancer therapy.

Zhou X et al.

Cancer Letters, 2024

[Functional diversity of NLRP3 gain-of-function mutations and impact on the diagnosis of CAPS hereditary auto-inflammation disease].

Cosson C et al.

Medecine Sciences : M/s, 2024

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Fig___Tables.pdf

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Long-term renal outcome of Cryopyrin-associated periodic syndrome (CAPS) under anti-Interleukin-1 therapy.

Russwurm M et al.

Scientific Reports, 2024

Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome.

Mulazzani E et al.

European Journal of Neurology, 2024

[The most frequent febrile syndromes and autoinflammatory diseases in adulthood].

Pankow A et al.

Zeitschrift Fur Rheumatologie, 2024

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.

Cosson C et al.

The Journal of Experimental Medicine, 2024

1–50 of 219 papers
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