Associated Papers
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Feng S et al.
Nature Immunology, 2025
FAAH served a key membrane-anchoring and stabilizing role for NLRP3 protein independently of the endocannabinoid system.
Zhu Y et al.
Cell Death and Differentiation, 2023
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A et al.
Elife, 2022
A three-generation Muckle-Wells syndrome family: Detailed family history, physical examination, and inter-departmental collaboration.
Kato D et al.
Modern Rheumatology Case Reports, 2022
Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
Solís-Moruno M et al.
Scientific Reports, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A et al.
The Journal of Allergy and Clinical Immunology, 2019
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
Kuemmerle-Deschner JB et al.
Pediatric Rheumatology Online Journal, 2015
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
A Case of Hearing Impairment with Renal Dysfunction.
Prakash GK et al.
Indian Journal of Nephrology, 0
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