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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 …
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
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 …
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
Familial Mediterranean fever (FMF) is a genetically determined disease transmitted through
autosomal recessive inheritance. Recently, a rare but similar disease to FMF, pyrin …
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 …
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 …
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 …
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 …
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
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 …
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 …
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; …
central (SNC) caracterizada por lesiones desmielinizantes (Nicholas & Rashid, 2013; …