Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.A54T
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NLRP1

NM_033004.4:p.A54T

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 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

Combined therapy with IL-1 and JAK inhibitors in a patient with the NLRP1 gene mutation and a complex inflammatory phenotype.

Burlakov V et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

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

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

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

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

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

Zhong FL et al.

Cell, 2016

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."