[8] Jeskey J, Parida A, Graven K, et al. Novel gene deletion in NLRC4 expanding the familial cold inflammatory syndrome phenotype[J]. Allergy Rhinol (Providence), 2020,11:2152656720928062. DOI: 10.1177/2152656720928062....
NLRC4 mutation causes rare autoinflammatory disease.This article discusses research on the role of NLRC4 gene mutations in autoinflammatory syndrome. It references the studies "An Activating NLRC4 Inflammasone Mutation Causes Autoinflammation With Recurrent Macrophage Activation Syndrome" and "Mutation of...
Genetic system for cell-specific inflammasome activation To address the physiological consequences of chronic cell type specific NAIP/NLRC4 activation in vivo, we generated a genetically targeted ‘iOvaFla’ mouse that expresses, under Cre-inducible control, a gene encoding chicken ovalbumin (Ova) (l...
In this study, we performed an unbiased CRISPR/Cas9 screen followed by genetic confirmation experiments in primary macrophages from gene-targeted mice to gain a better understanding of the mechanisms involved in NLRC4-mediated cell death. Importantly, we provide genetic data that highlight the critic...
Two new studies now report gain-of-function mutations in the NLRC4 gene that cosegregate with distinct autoinflammatory syndromes in affected families. This is a preview of subscription content, log in via an institution to check access. References Poyet, J.L. et al. J. Biol. Chem. 276,...
We found a heterozygous mutation in NLRC4 gene: c.390delG: p.S132Afs*21. All mutations have been reported for the first time as NLRC4 mutations associated with autoinflammation. We introduced novel mutations in the CARD domain and between CARD and NBD domain in the first and third cases...
In summary, we identified the first patient with a novel de novo heterozygous NLRC4 gene mutation contributing to autoinflammatory disease in Malaysia. Our findings reinforce the likely pathogenicity of specific LRR domain mutations in NLRC4 and expand the clinical spectrum of NLRC4 mutations....
We found that mutation of this gene barely influences the bacteria growth and infection capability. Interestingly, the inflammasome activation was reduced in Delta trxlp-infected macrophages, compared with wild-type E. piscicida did. Moreover, Trxlp mainly promotes the NLRC4, but not NLRP3 ...
The selection of targeted circRNAs and miRNAs to the NLRC4 gene in the DN model. (A) The circRNAs-miRNAs-NLRC4 network was plotted using cytoscape software. (B) qPCR analysis was used to detect circRNAs expression in the kidney tissue of sham (n = 4) and DN mice (n = 4)...
PA expression plasmid was obtained from Addgene. Expression plasmids for pro-caspase-1 and pro-IL-1β were provided by X. Wang (University of Texas Southwestern Medical Center). NAIP2, NAIP5 and NLRC4 were amplified as described previously14. For mammalian expression, cDNAs for all NLR ...