Autoinflammation due to homozygous S208 MEFV mutation
Author:
Funder
GOSH CC
Arthritis Research UK
Publisher
BMJ
Subject
General Biochemistry, Genetics and Molecular Biology,Immunology,Immunology and Allergy,Rheumatology
Reference6 articles.
1. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
2. Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS
3. Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome
4. Masters SL , Lagou V , Jéru I , et al . Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl Med 2016;8:ra45. doi:10.1126/scitranslmed.aaf1471
5. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
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1. Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family;Gene;2024-04
2. The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases;Frontiers in Immunology;2024-01-05
3. The role of pyroptosis in inflammatory diseases;Frontiers in Cell and Developmental Biology;2023-05-12
4. Crystal structure and ligandability of the 14-3-3/pyrin interface;Biochemical and Biophysical Research Communications;2023-04
5. Cellular signaling, molecular activation, and regulation of auto-active inflammasomes: Insights from disease-associated variants;Inflammasome Biology;2023
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