نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

Journal: :Rheumatology 2009
Eldad Ben-Chetrit Hagit Peleg Suhail Aamar Samuel N Heyman

OBJECTIVE FMF is an autosomal recessive hereditary disease, associated with a single gene named MEFV. This gene is considered to be responsible only for FMF. In the present study, we tried to find out whether the MEFV gene is associated with or responsible for clinical conditions other than FMF. METHODS We looked for patients who presented with signs and symptoms not typical for FMF but carri...

2016
Kiyoshi Migita Yasumori Izumi Yuka Jiuchi Nozomi Iwanaga Chieko Kawahara Kazunaga Agematsu Akihiro Yachie Junya Masumoto Keita Fujikawa Satoshi Yamasaki Tadashi Nakamura Yoshifumi Ubara Tomohiro Koga Yoshikazu Nakashima Toshimasa Shimizu Masataka Umeda Fumiaki Nonaka Michio Yasunami Katsumi Eguchi Koh-ichiro Yoshiura Atsushi Kawakami

BACKGROUND The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. METHODS We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: su...

2018
Maria Zerkaoui Fatima Zahra Laarabi Yousra Ajhoun Bouchra Chkirate Abdelaziz Sefiani

BACKGROUND Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulc...

2013
Sedat Yilmaz Hakan Erdem Servet Tunay Deniz Torun Halil Genc Yusuf Tunca Omer Karadag Ismail Simsek Muhterem Bahce Salih Pay Ayhan Dinc

BACKGROUND/AIMS Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. METHODS Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutati...

2008
Khloyan Gayane RK Saurenmann Amaryan Gayane Karibian Alan

Results MEFV analysis was available for 44/69 patients, 7/8 with systemic onset(So) JIA and 37/61 with other types of JIA. MEFV mutations were found in 27/44 patients tested (61%). 3/7 patients (43%) with SoJIA had MEFV mutations, all heterozygous. Of the 24/37 patients (65%) with other forms of JIA had confirmed MEFV mutations and 12/24 had typical episodes of FMF. With colchicine in addition ...

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...

2011
M Debeljak N Abazi N Toplak K Stavrić M Kolnik D Kuzmanovska T Avčin

Background Familial Mediterranean Fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis. It is common in eastern Mediterranean population. There are only few FMF patients in Slovenia and Macedonia and the mutation carrier rate is not known. So far, over 80 disease associated mutations have been identified in MEFV gene; the most common are M694V,...

Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and nor...

2013
D Babikyan I Jeru B Copin H Hayrapetyan S Amselem T Sarkisian

Introduction FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomati...

2014
Hilmi TOZKIR Hakan GÜRKAN Neşe ÖZKAYIN Necdet SÜT

©2014 Turkish League Against Rheumatism. All rights reserved. Objectives: This study aims to investigate the possible relationship between Mediterranean fever (MEFV) gene mutations and messenger ribonucleic acid (mRNA) expressions and to identify the link between phenotype and genotype of pediatric patients with Familial Mediterranean fever (FMF). Patients and methods: Seventy-one pediatric FMF...

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