Associated Papers
New Diseases Linked to MEFV Variants or Pyrinopathies.
Mertz P et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND.
Paronyan A et al.
Acs Omega, 2025
Pyrin-associated autoinflammation with neutrophilic dermatosis: A case report.
Bueno-Molina RC et al.
The Journal of Dermatology, 2024
Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.
Kishida D et al.
Immunological Medicine, 2024
[Monogenic and acquired autoinflammatory diseases].
Szekanecz Z et al.
Orvosi Hetilap, 2024
Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family.
Wu N et al.
Gene, 2024
Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.
Reygaerts T et al.
Rheumatology (oxford, England), 2024
Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.
Malik HS et al.
Mbio, 2023
A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.
Wang Q et al.
Jci Insight, 2023
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease.
Wang Q et al.
Journal of Clinical Immunology, 2023
Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.
Seyahi E et al.
Clinical Immunology (orlando, Fla.), 2023
An Update on Familial Mediterranean Fever.
Lancieri M et al.
International Journal of Molecular Sciences, 2023
Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.
Chirita D et al.
Cell Death & Disease, 2023
Divergent functional outcomes of NLRP3 blockade downstream of multi-inflammasome activation: therapeutic implications for ALS.
Clénet ML et al.
Frontiers in Immunology, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.
Magnotti F et al.
Cell Reports, 2022
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Dundar M et al.
Functional & Integrative Genomics, 2022
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Narayanan DL et al.
Clinical Dysmorphology, 2022
Is neutrophilic dermatosis a manifestation of familial Mediterranean fever?
Delplanque M et al.
Scandinavian Journal of Rheumatology, 2022
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
Vahidnezhad H et al.
Jama Dermatology, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment.
Van Nieuwenhove E et al.
Rheumatology (oxford, England), 2021
MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever.
Fujimoto K et al.
Modern Rheumatology, 2021
Frequencies of the MEFV Gene Mutations in Azerbaijan.
Huseynova LS et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y et al.
Journal of Clinical Immunology, 2021
Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases.
Malengier-Devlies B et al.
Journal of Clinical Immunology, 2021
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Di Donato G et al.
International Journal of Molecular Sciences, 2021
Colitis expands the phenotype of PAAND patients: new case report and review of the literature.
Valdivieso Shephard JL et al.
Rheumatology (oxford, England), 2021
The pyrin inflammasome and the Yersinia effector interaction.
Malik HS et al.
Immunological Reviews, 2020
Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
Jamilloux Y et al.
Rheumatology (oxford, England), 2020
Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: reply.
Stella A et al.
Rheumatology (oxford, England), 2020
The pyrin inflammasome in host-microbe interactions.
Loeven NA et al.
Current Opinion in Microbiology, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Complexity of familial Mediterranean fever genetics.
İlgen U
European Journal of Rheumatology, 2020
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.
Magnotti F et al.
Embo Molecular Medicine, 2019
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Kacar M et al.
Rheumatology (oxford, England), 2019
Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.
Vural S et al.
The British Journal of Dermatology, 2019
Autoinflammation due to homozygous S208 MEFV mutation.
Hong Y et al.
Annals of the Rheumatic Diseases, 2019
A case of neutrophilic dermatosis with MEFV gene variant and abnormal activation of peripheral blood monocytes: a case report.
Otsuka M et al.
Immunological Medicine, 2019
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Rowczenio DM et al.
Presse Medicale (paris, France : 1983), 2019