Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.R726W
Back to variants list

NLRP1

NM_033004.4:p.R726W

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

NLRP inflammasomes in health and disease.

Xu Z et al.

Molecular Biomedicine, 2024

Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.

Calabrese L et al.

The British Journal of Dermatology, 2024

Current understanding of the phenotypic spectrum of patients with NLRP1 variants.

Takeichi T et al.

The British Journal of Dermatology, 2023

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Li M et al.

The British Journal of Dermatology, 2023

Oxidized thioredoxin-1 restrains the NLRP1 inflammasome.

Ball DP et al.

Science Immunology, 2022

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review.

Li Y et al.

Pediatric Rheumatology Online Journal, 2022

NLRP1 Inflammasome Activation in Keratinocytes: Increasing Evidence of Important Roles in Inflammatory Skin Diseases and Immunity.

Fenini G et al.

The Journal of Investigative Dermatology, 2022

The NLRP1 Inflammasome Induces Pyroptosis in Human Corneal Epithelial Cells.

Griswold AR et al.

Investigative Ophthalmology & Visual Science, 2022

The CARD8 T60 variant associates with NLRP1 and negatively regulates its activation.

Xu Z et al.

Frontiers in Immunology, 2022

The NLRP1 Inflammasome in Human Skin and Beyond.

Fenini G et al.

International Journal of Molecular Sciences, 2020

Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Marino A et al.

Journal of Translational Autoimmunity, 2020

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Drutman SB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

An Update on Autoinflammatory Diseases: Inflammasomopathies.

Harapas CR et al.

Current Rheumatology Reports, 2018

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

Grandemange S et al.

Annals of the Rheumatic Diseases, 2017

NLRP1-associated autoinflammatory disease with epithelial dyskeratosis.

Lemus-Arteaga K et al.

Pediatric Dermatology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."