Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.D305N
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NLRP3

NM_004895.5:p.D305N

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

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Bonet N et al.

Journal of Clinical Immunology, 2025

The RNA degradation enzyme RNase E is essential for early flagellar assembly in Escherichia coli.

Wang WS et al.

Pnas Nexus, 2025

40894857 (PubMed )
Supplement: pgaf269_supplementary_data.docx

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Pantea CL et al.

Scientific Reports, 2025

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

Feng S et al.

Nature Immunology, 2025

Nucleotide-binding domain, leucine-rich repeat, and pyrin domain-containing protein 3 inflammasome: From action mechanism to therapeutic target in clinical trials.

Zhang CY et al.

World Journal of Gastrointestinal Oncology, 2025

The role of gene mutations and immune responses in sensorineural hearing loss.

Zhang X et al.

International Immunopharmacology, 2024

Pregnancy occurring in AA amyloidosis: a series of 27 patients including 3 new French cases.

Delplanque M et al.

Journal of Nephrology, 2024

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

Vande Walle L et al.

Life Science Alliance, 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 205 papers
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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."