Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.A66V
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NLRP1

NM_033004.4:p.A66V

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

Modular inflammation network discovery from large-scale phenotypic screening in genetically heterogeneous mouse brains.

Xiong M et al.

Journal of Neuroinflammation, 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

Divergent functional outcomes of NLRP3 blockade downstream of multi-inflammasome activation: therapeutic implications for ALS.

Clénet ML et al.

Frontiers in Immunology, 2023

Inflammasome sensor NLRP1 disease variant M1184V promotes autoproteolysis and DPP9 complex formation by stabilizing the FIIND domain.

Moecking J et al.

The Journal of Biological Chemistry, 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

NLRP1 variant M1184V decreases inflammasome activation in the context of DPP9 inhibition and asthma severity.

Moecking J et al.

The Journal of Allergy and Clinical Immunology, 2021

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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