نتایج جستجو برای: mefv gene mutations

تعداد نتایج: 1225908  

2013
R Taha S Ayesh M Kambouris H El-Shanti

Introduction Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis....

2015
Morteza Jabbarpour Bonyadi Sousan Mir Najd Gerami Mohammad Hossein Somi Saeed Dastgiri

OBJECTIVES Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Iranian...

2015
Morteza Jabbarpour Bonyadi Sousan Mir Najd Gerami Mohammad Hossein Somi Saeed Dastgiri

Article type: Original article Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribu...

Journal: :medical journal of islamic republic of iran 0
amir mehrgou department of medical genetics and molecular biology, school of medicine, iran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences) mansoureh akouchekian department of medical genetics and molecular biology, school of medicine, iran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences)

many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. early detection of mutation carriers in these genes, in turn, can play an import...

2012
Ah Leum Lim Hyun Joo Jang Jung Wan Han Yong Keun Song Won Jun Song Heung Jung Woo Young Ok Jung Sea Hyub Kae Jin Lee

Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most ...

2015
I Jéru L Van Eyck V Lagou J Ruuth-Praz B Copin E Cochet A Liston A Goris S Amselem C Wouters

Introduction Autoinflammatory disorders are a group of diseases whose nosology and etiology are only partly understood. Among Mendelian forms, familial Mediterranean fever (FMF), due to mutations in MEFV, is one of the most frequent. Most MEFV mutations are located in exon 10 and are usually associated with an autosomal recessive mode of inheritance. MEFV encodes pyrin, which interacts with PST...

2012
Emel Guler Ece Kaptanoglu Ozlem Sahin Ferhan Candan Emrullah Hayta Hasan Elden

Objective: It has been suggested that Mediterranean fever (MEFV) gene mutations are also seen in certain autoimmune diseases and are related to severity of the disease activity. As most of the clinical symptoms of these inflammatory diseases are related to autoantibody positivity, we assessed autoantibody prevalence in patients with Familial Mediterranean fever (FMF) and investigated the relati...

2015
Kwang Taek Kim Hyun Joo Jang Jae Eun Lee Mi Kang Kim Jun Jae Yoo Gye Yeon Lee Sea Hyub Kae Jin Lee

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a c...

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