نتایج جستجو برای: mefv gene mutations

تعداد نتایج: 1225908  

2015
Kohei Fujikura

Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, and pleuritis. Many mutations in the MEFV gene have been identified as causing FMF. However, accompanying epidemiological information remains quite scarce except in some Mediterranean countries, and the degree of penetrance has been a subject of...

Journal: :Clinical genetics 2013
F S Ong H Vakil Y Xue J Z Kuo K H Shah R B Lee K E Bernstein D L Rimoin T Getzug K Das J L Deignan J I Rotter W W Grody

Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific geno...

2012
Serbulent Yigit Ahmet Inanir Nevin Karakus Esra Kesici Nihan Bozkurt

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694...

Journal: :Japanese Journal of Clinical Immunology 2007

2017
Mike M Moradian Davit Babikyan Dion Banoian Hasmik Hayrapetyan Hakob Manvelyan Nareh Avanesian Tamara Sarkisian

BACKGROUND Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS In this study, we analyzed the mutations that have been reported in the MEFV gene from symp...

2009
Jinong Feng Zhifang Zhang Wenyan Li Xiaoming Shen Wenjia Song Chunmei Yang Frances Chang Jeffrey Longmate Claudia Marek R. Paul St. Amand Theodore G. Krontiris John E. Shively Steve S. Sommer

BACKGROUND Fibromyalgia syndrome (FMS), a common, chronic, widespread musculoskeletal pain disorder found in 2% of the general population and with a preponderance of 85% in females, has both genetic and environmental contributions. Patients and their parents have high plasma levels of the chemokines MCP-1 and eotaxin, providing evidence for both a genetic and an immunological/inflammatory origi...

2015
K Warrier L Cliffe L McDermott S Rangaraj

Background/question Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder characterised by self-resolving attacks of fever and serositis common in populations from Mediterranean ancestry [1]. Mutations affecting MEFV gene is believed to be responsible for the disease phenotype[1]. The correlation between the genotype and phenotype is not very strong, indicating the presence o...

Journal: :Clinical and experimental rheumatology 2005
G Espinosa J I Arostegui S Plaza J Rius R Cervera J Yagüe J Font

OBJECTIVE Mutations in the MEFV and the type 1 TNF receptor (TNFRSF 1A) genes have recently been linked to familial Mediterranean fever (FMF) and TNF receptor-associated periodic syndrome (TRAPS), respectively. A higher prevalence of Behçet's disease (BD) among FMF patients has been described compared to the general population. The aim of this study was to evaluate whether FMF TRAPS and BD coul...

Journal: :Clinical and experimental rheumatology 2008
K Migita T Nakamura Y Maeda T Miyashita T Koga M Tanaka M Nakamura A Komori H Ishibashi T Origuchi H Ida E Kawasaki M Yasunami K Eguchi

OBJECTIVE Familiar Mediterranean Fever (FMF) is common among Mediterranean populations, while other populations are rarely affected. The aim of this study was to assess the involvement of MEFV gene mutations among Japanese rheumatoid arthritis patients with or without amyloid A (AA) amyloidosis. METHODS The frequency of the MEFV mutations, which were identified in Japanese FMF patients, was d...

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