Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S208C
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MEFV

NM_000243.3:p.S208C

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

[Monogenic and acquired autoinflammatory diseases].

Szekanecz Z et al.

Orvosi Hetilap, 2024

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

Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.

Magnotti F et al.

Cell Reports, 2022

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

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

TRAP1 chaperone protein mutations and autoinflammation.

Standing AS et al.

Life Science Alliance, 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

Autoinflammation due to homozygous S208 MEFV mutation.

Hong Y et al.

Annals of the Rheumatic Diseases, 2019

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

Kilinc M et al.

Rheumatology International, 2016

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder.

Portincasa P et al.

European Journal of Clinical Investigation, 2013

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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."