Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.P1214R
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NLRP1

NM_033004.4:p.P1214R

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.

Nyaga DM et al.

Npj Genomic Medicine, 2024

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

Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome.

Zhang Z et al.

Nature, 2023

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

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

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

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.

Harapas CR 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

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

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

Structural and biochemical mechanisms of NLRP1 inhibition by DPP9.

Huang M et al.

Nature, 2021

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

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

Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome.

Garrelfs MR et al.

Cardiology in the Young, 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

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

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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."