Matches:
MEFV “Genetic analysis revealed MEFV polymorphisms in 7 cases and a TNFRSF1A mutation [C43R] in single case.”
CD68 “Histologically, all cases showed myonecrosis infiltrated with CD68+ macrophages.”
17 results for “MEFV”
MEFV
Gene
Publications
Matches:
MEFV “MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.”
familial Mediterranean fever “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 established pathogenic variant in MEFV, but in this study we provide a complete evaluation that suggests this variant is likely benign.”
Matches:
MEFV “Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.”
familial Mediterranean fever “Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.”
Matches:
MEFV “Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.”
COL7A1 “He had homozygous mutation in COL7A1 gene.”
Matches:
MEFV “A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A.”
NLRP3 “A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A.”
Matches:
MEFV “The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner.”
familial Mediterranean fever “Familial Mediterranean fever, review of the literature.”
Matches:
MEFV “The disease was caused by a mutation in MEFV, the gene encoding pyrin (S242R).”
familial Mediterranean fever “Mutations in the B30.2/SPRY domain cause pathogen-independent activation of pyrin and are responsible for the autoinflammatory disease familial Mediterranean fever (FMF).”
Matches:
MEFV “Several monogenic autoinflammatory disorders have been described, but thus far, systemic JIA has only been attributed to a mutation of MEFV in rare cases and has been weakly associated with the HLA class II locus.”
LACC1 “Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.”
Matches:
MEFV “BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin.”
familial Mediterranean fever “A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.”
Matches:
MEFV “METHODS: We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF.”
familial Mediterranean fever “Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.”