Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.M77T
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NLRP1

NM_033004.4:p.M77T

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

NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.

Barry K et al.

Communications Biology, 2023

38104185 (PubMed )
Supplement: 42003_2023_5684_MOESM1_ESM.pdf

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

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

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.

Lin B et al.

The Journal of Allergy and Clinical Immunology, 2022

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

Xu Z et al.

Frontiers in Immunology, 2022

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant.

Herlin T et al.

Rheumatology (oxford, England), 2020

The NLRP1 Inflammasome in Human Skin and Beyond.

Fenini G et al.

International Journal of Molecular Sciences, 2020

The NLRP1 inflammasome: new mechanistic insights and unresolved mysteries.

Mitchell PS et al.

Current Opinion in Immunology, 2019

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

Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding.

Zhong FL et al.

The Journal of Biological Chemistry, 2018

Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.

Jamilloux Y et al.

Clinical Reviews in Allergy & Immunology, 2018

An Update on Autoinflammatory Diseases: Inflammasomopathies.

Harapas CR et al.

Current Rheumatology Reports, 2018

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

Gupta S et al.

Experimental Eye Research, 2017

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

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Zhong FL et al.

Cell, 2016

Functions of NOD-Like Receptors in Human Diseases.

Zhong Y et al.

Frontiers in Immunology, 2013

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Soler VJ et al.

Journal of Medical Genetics, 2013

Genetics of Inflammasomes.

da Silva WC et al.

Experientia Supplementum (2012), 0

NLRP1-associated autoinflammatory disease with epithelial dyskeratosis.

Lemus-Arteaga K et al.

Pediatric Dermatology, 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."