Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.T350M
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NLRP3

NM_004895.5:p.T350M

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

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

Genetic removal of Nlrp3 protects against age-related and R345W Efemp1-induced basal laminar deposit formation.

Ortega AJ et al.

Cell Death & Disease, 2025

Discovery of potent and selective inhibitors of human NLRP3 with a novel mechanism of action.

Wilhelmsen K et al.

The Journal of Experimental Medicine, 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

41026232 (PubMed )
Supplement: 10875_2025_1922_MOESM1_ESM.docx

4-octyl itaconate reduces human NLRP3 inflammasome constitutive activation with the cryopyrin-associated periodic syndrome p.R262W, p.D305N and p.T350M variants.

Molina-Lopez C et al.

Cellular and Molecular Life Sciences : Cmls, 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

39930093 (PubMed )
Supplement: 41590_2025_2088_MOESM3_ESM.xlsx › Table_1

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

Zhang X et al.

International Immunopharmacology, 2024

Insights into the multifaceted role of interleukin-37 on human immune cell regulation.

Teufel LU et al.

Clinical Immunology (orlando, Fla.), 2024

Genetic removal of Nlrp3 protects against sporadic and R345W Efemp1-induced basal laminar deposit formation.

Ortega AJ et al.

Biorxiv : the Preprint Server for Biology, 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 192 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."