Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.H443P
Back to variants list

NLRC4

NM_001199138.2:p.H443P

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

NLRC4, inflammation and colorectal cancer (Review).

Tong G et al.

International Journal of Oncology, 2024

Genetics of Primary Hemophagocytic Lymphohistiocytosis.

Karageorgos S et al.

Advances in Experimental Medicine and Biology, 2024

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Gil-Lianes J et al.

The Australasian Journal of Dermatology, 2023

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

Cold-induced loss of interaction with HSC70 triggers inflammasome activity of familial cold autoinflammatory syndrome-causing mutants of NLRP3.

Raghawan AK et al.

Biochemical and Biophysical Research Communications, 2023

The autoinflammation-associated NLRC4V341A mutation increases microbiota-independent IL-18 production but does not recapitulate human autoinflammatory symptoms in mice.

Eeckhout E et al.

Frontiers in Immunology, 2023

Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease.

Wang J et al.

Annals of the Rheumatic Diseases, 2022

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J et al.

Journal of Clinical Medicine, 2021

A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.

Wang L et al.

Frontiers in Immunology, 2021

NLRC4 Gene Single Nucleotide Polymorphisms Are Associated with the Prognosis of Hemophagocytic Lymphohistiocytosis.

Li Y et al.

Computational and Mathematical Methods in Medicine, 2021

NLRC4 biology in immunity and inflammation.

Andrade WA et al.

Journal of Leukocyte Biology, 2020

Inflammasomes in the pathophysiology of autoinflammatory syndromes.

Tartey S et al.

Journal of Leukocyte Biology, 2020

Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18.

Alehashemi S et al.

Frontiers in Immunology, 2020

Distinct Roles of IL-1β and IL-18 in NLRC4-Induced Autoinflammation.

Sasaki Y et al.

Frontiers in Immunology, 2020

HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4.

Raghawan AK et al.

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

Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors.

Zou G et al.

Iscience, 2019

Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface.

Moghaddas F et al.

The Journal of Allergy and Clinical Immunology, 2018

An Update on Autoinflammatory Diseases: Inflammasomopathies.

Harapas CR et al.

Current Rheumatology Reports, 2018

Novel aspects of the assembly and activation of inflammasomes with focus on the NLRC4 inflammasome.

Fusco WG et al.

International Immunology, 2018

ASC- and caspase-8-dependent apoptotic pathway diverges from the NLRC4 inflammasome in macrophages.

Lee BL et al.

Scientific Reports, 2018

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome.

Barsalou J et al.

Frontiers in Immunology, 2018

NAIP/NLRC4 inflammasome activation in MRP8+ cells is sufficient to cause systemic inflammatory disease.

Nichols RD et al.

Nature Communications, 2017

NLRC4 inflammasomopathies.

Romberg N et al.

Current Opinion in Allergy and Clinical Immunology, 2017

A clinical update on inflammasomopathies.

Sönmez HE et al.

International Immunology, 2017

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Oda H et al.

Rheumatic Diseases Clinics of North America, 2017

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.

Kawasaki Y et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

A Disease-associated Mutant of NLRC4 Shows Enhanced Interaction with SUG1 Leading to Constitutive FADD-dependent Caspase-8 Activation and Cell Death.

Raghawan AK et al.

The Journal of Biological Chemistry, 2017

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Volker-Touw CM et al.

The British Journal of Dermatology, 2017

The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.

de Torre-Minguela C et al.

Frontiers in Immunology, 2017

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Newly recognized Mendelian disorders with rheumatic manifestations.

de Jesus AA et al.

Current Opinion in Rheumatology, 2015

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Aksentijevich I

Seminars in Immunopathology, 2015

An inherited mutation in NLRC4 causes autoinflammation in human and mice.

Kitamura A et al.

The Journal of Experimental Medicine, 2014

Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.

Liang J et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

Genetics of Inflammasomes.

da Silva WC et al.

Experientia Supplementum (2012), 0

Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype.

Jeskey J et al.

Allergy & Rhinology (providence, R.i.), 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."