نتایج جستجو برای: mefv gene mutations

تعداد نتایج: 1225908  

2015
Mohammed J. Ashour Fadel A. Sharif

Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder caused by mutations in the MEFV gene that encodes the pyrin protein. The disease is relatively common among people originating from the Mediterranean areas. The aim of this study was to determine the common MEFV gene mutations in 270 Palestinian patients diagnosed with FMF. The patients were screened for four com...

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...

Journal: :Mediators of Inflammation 2006
Ahmet Dursun Hatice Gul Durakbasi-Dursun Ayse Gul Zamani Zerrin Gülin Gulbahar Recep Dursun Cengiz Yakicier

OBJECTIVES Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was...

2014
Samia Salah Samia Rizk Hala M Lotfy Salma EL Houchi Huda Marzouk Yomna Farag

BACKGROUND Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carri...

Journal: :iranian journal of basic medical sciences 0
morteza jabbarpour bonyadi faculty of natural sciences, center of excellence for biodiversity, university of tabriz, tabriz, iran sousan mir najd gerami gastrointestinal and liver disease research center, tabriz university of medical sciences, tabriz, iran mohammad hossein somi gastrointestinal and liver disease research center, tabriz university of medical sciences, tabriz, iran saeed dastgiri hematology and oncology research center , tabriz university of medical sciences, tabriz, iran

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 distribution of mefv mutations in irani...

2016
Alireza KHABBAZI Farideh ZOLRAHIM Mehrdad ASGHARI ESTIAR Ebrahim SAKHINIA Sousan KOLAHI

Some genes have an unproven role in the pathogenesis of Rheumatoid arthritis (RA). One of these suspected genes is the Mediterranean fever (MEFV) gene. MEFV is responsible for familial Mediterranean fever (FMF). Currently, more than 100 FMF-associated mutations of the MEFV gene have been identified. With most located on exon 10, five of these: E148Q, M680I, M694V, M694I, and V726A account for m...

Journal: :Annals of the rheumatic diseases 2004
K Ritis S Giaglis N Spathari A Micheli D Zonios D Tzoanopoulos C C Deltas S Rafail R Mean V Papadopoulos A G Tzioufas H M Moutsopoulos G Kartalis

BACKGROUND The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. OBJECTIVE To describe a method that facilitates the routine screening of the entire coding sequence of MEFV (excluding exon 1). METHODS The non-isotopic RNase cleavage assa...

2013
M Debeljak N Toplak N Abazi M Kolnik B Szabados V Mulaosmanovic J Radović J Vojnović T Constantin D Kuzmanovska T Avčin

Introduction Familial Mediterranean fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis common in eastern Mediterranean population. Over 160 mutations have been identified in MEFV gene responsible for FMF. The most common mutations in MEFV gene are E148Q, M694I, M694V, V726A and M680I. The distribution pattern of MEFV mutation along the Medite...

Journal: :European review for medical and pharmacological sciences 2012
I Yolbas F Ozen N Kocak S Kelekci A Gunes S Yel

OBJECTIVES Familial mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent and self-limiting fever, peritonitis, arthritis, synovitis, pleuritis, carditis, and erysipelas-like lesions. The aim of this study was to investigate the frequency of the MEFV gene mutation in patients who admitted to hospital with preliminary diagnosis FMF and who had undergone a prior a...

Journal: :Turkish journal of medical sciences 2014
Yiiksel Maraş Ali Akdoğan Bünyamin Kisacik Levent Kiliç Engin Yilmaz Abdurrahman Tufan Umut Kalyoncu Şaziye Şule Apraş Bilgen Sedat Kiraz Ali İhsan Ertenli Meral Çalgüneri

BACKGROUND/AIM To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients. MATERIALS AND METHODS In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calcula...

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