نتایج جستجو برای: ژن mefv

تعداد نتایج: 16785  

2014
SERKAN CELIK FATIH TANGI CAGATAY OKTENLI

High frequencies of inherited variants in the Mediterranean fever (MEFV) gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in the MEFV gene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six hete...

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...

2013
A Soriano D Rigante L Cerrito C Fonnesu L Sicignano A Gallegos R Manna

Introduction Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while aro...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002
Catherine Dodé Bouke P C Hazenberg Christophe Pêcheux Daniel Cattan Bruno Moulin Anne Barthélémy Marie-Claire Gubler Marc Delpech Gilles Grateau

BACKGROUND Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type. In this study we have characterized FMF and...

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...

2015
Ziyan Wu Shulan Zhang Jing Li Si Chen Ping Li Fei Sun Xiaoting Wen Wenjie Zheng Fengchun Zhang Yongzhe Li Graham R. Wallace

OBJECTIVE Several studies have identified an association between Behçet's disease (BD) and mutations in the Mediterranean fever (MEFV) gene, which was originally linked to the autosomal recessive disease, Familial Mediterranean fever. However, no consensus has been reached. Here, a meta-analysis was conducted on published data to comprehensively evaluate this relationship. METHODS Literature ...

Journal: :British journal of industrial medicine 1984
M J Sepulveda J L Hankinson R M Castellan J B Cocke

Lung function responses to inhaled cotton dust were evaluated in a group of 58 healthy subjects by spirometry (MEFV curves) and forced random noise impedance parameters. Twenty-one of these subjects were also examined by body plethysmography to assess changes in airway resistance (Raw). For the study group as a whole, alterations in lung mechanical function after exposure to cotton dust were de...

2009
Alexandra-Chloé Villani Mathieu Lemire Edouard Louis Mark S. Silverberg Catherine Collette Geneviève Fortin Elaine R. Nimmo Yannick Renaud Sébastien Brunet Cécile Libioulle Jacques Belaiche Alain Bitton Daniel Gaudet Albert Cohen Diane Langelier John D. Rioux Ian D. R. Arnott Gary E. Wild Paul Rutgeerts Jack Satsangi Séverine Vermeire Thomas J. Hudson Denis Franchimont

BACKGROUND AND AIMS The familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1beta processing. Pyrin has been shown to interact with the gene product of NLRP3, NALP3/cryopyrin, also an important active member of the inflammasome. The NLRP3 region was recently reported to be associated with Crohn's di...

Journal: :Rheumatology 2006
H J Lachmann B Sengül T U Yavuzşen D R Booth S E Booth A Bybee J R Gallimore M Soytürk S Akar M Tunca P N Hawkins

OBJECTIVE To prospectively monitor inflammatory activity over a prolonged period in a cohort of Turkish patients with FMF, their healthy relatives and healthy controls and to relate this to their MEFV genotypes. METHODS 43 patients with FMF and 75 of their asymptomatic relatives underwent fortnightly assessments and venesection for measurement of CRP and SAA over 5 months. 50 unrelated health...

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