Mutations in the B30. 2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation

D Chirita, P Bronnec, F Magnotti, S Dalmon… - Cell Death & …, 2023 - nature.com
Abstract Familial Mediterranean Fever (FMF) is the most common monogenic
autoinflammatory disorder. FMF is caused by mutations in the MEFV gene, encoding pyrin …

Clinical and demographic evaluation according to MEFV genes in patients with familial Mediterranean fever

E Sönmezgöz, S Özer, A Gül, R Yılmaz, T Kasap… - Biochemical …, 2019 - Springer
The present study examined the relationship between clinical findings and mutation
analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region …

In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND

A Paronyan, N Muradyan, A Sargsyan, V Arakelov… - ACS …, 2025 - ACS Publications
Familial Mediterranean fever (FMF) is a genetically determined disease transmitted through
autosomal recessive inheritance. Recently, a rare but similar disease to FMF, pyrin …

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into …

EV Grigor'eva, LV Karapetyan, AA Malakhova… - International Journal of …, 2024 - mdpi.com
Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by
inherited mutations in the MEFV (Mediterranean FeVer) gene, located on chromosome 16 …

Dynamic disequilibrium-based pathogenicity model in mutated pyrin's B30. 2 domain—Casp1/p20 complex

AG Fayez, GN Eldeen, WA Zarouk, K Hamed… - Journal of Genetic …, 2022 - Springer
Background The B30. 2 variants lead to most relevant severity forms of familial
Mediterranean fever (FMF) manifestations. The B30. 2 domain plays a key role in protein …

Apoptosis, reactive oxygen species and DNA damage in familial Mediterranean fever patients

WKB Khalil, W Zarouk, GN Eldeen, A Ramadan… - Gene Reports, 2019 - Elsevier
Background Assessment of apoptosis by flow cytometry assay and expression of apoptosis-
related genes by quantitative Real-Time PCR has been suggested for predicting the patient …

[PDF][PDF] Effect of M694V mutation in the MEFV gene, associated with Familial Mediterranean fever, on the morphology of iPSC-derived macrophages

EV Grigor'eva, LV Karapetyan, AA Malakhova… - 2024 - preprints.org
Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by
inherited mutations in the MEFV (Mediterranean FeVer) gene located on chromosome 16 …

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

L Alsubaie, R Alkhalaf, T Aloraini… - Annals of Human …, 2020 - Wiley Online Library
Abstract Background Familial Mediterranean fever is a hereditary inflammatory disorder
caused by variants in MEFV. c. 2230G> T p.(Ala744Ser) rs61732874 is considered to be an …

Mutations in the B30. 2 and the Central Helical scaffold domains of pyrin differentially affect inflammasome activation

F Magnotti, P Bronnec, S Dalmon, A Martin… - 2022 - researchsquare.com
Abstract Familial Mediterranean Fever (FMF) is the most common monogenic
autoinflammatory disorder. FMF is caused by mutations in the MEFV gene, encoding pyrin …

Secuenciación masiva de exoma en Esclerosis Múltiple familiar

L Torre Fuentes - 2022 - docta.ucm.es
La esclerosis múltiple (EM) es una enfermedad inflamatoria crónica del sistema nervioso
central (SNC) caracterizada por lesiones desmielinizantes (Nicholas & Rashid, 2013; …