Results 41 to 50 of about 1,294,883 (245)

Frequencies of the Common Mefv Gene Mutations in Adiyaman, Southeast Anatolia, Turkey

Balkan Journal of Medical Genetics, 2014
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV) gene; the most common of which are M694V, M680I, M694I and
Korkmaz D. T., Atak P. G., Çelik Ç.
doaj   +1 more source

Familial Mediterranean fever : MEFV gene mutations and treatment

Japanese Journal of Clinical Immunology, 2007
Familial Mediterranean fever (FMF) is an autosomal recessive disease which predominantly affects certain ethnic groups mainly Sephardic Jews, Turks, Arabs and Armenians. FMF has been rarely reported in Japan. Characteristic symptoms include self-limited recurrent attacks of fever with serositis such as peritonitis, pleuritis, and arthritis.
Megumu, Saito, Ryuta, Nishikomori, Naotomo, Kambe   +2 more
openaire   +3 more sources

Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation [PDF]

, 2016
BACKGROUND: The Mediterranean fever (MEFV) gene codes for protein pyrin, one of the regulators of inflammasome activity in innate immune cells. Mutations in this gene are considered the primary cause of Familial Mediterranean fever, but are also found in
Andrej Veljković, Dragana Lazarević, Dušica Pavlović, Gordana Kocić, Jelena Milenković, Jelena Vojinović, Maja Milojković, Maruša Debeljak, Nataša Toplak, Tadej Avčin, Tatjana Jevtović-Stoimenov, Vladmila Bojanić   +11 more
core   +1 more source

MEFV gene mutations in Henoch–Schönlein purpura [PDF]

International Journal of Rheumatic Diseases, 2013
AbstractAimCoexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch–Schönlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association.
Altug, Umut, Ensari, Cuneyt, Sayin, Derya B., Ensari, Arzu   +3 more
openaire   +6 more sources

P03-005 - MEFV heterozygous mutations in PFAPA patients [PDF]

Pediatric Rheumatology, 2013
PFAPA syndrome (acronym for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common cause of periodic fever in childhood. It is considered part of the wide family of the autoinflammatory diseases, but a genetic or molecular marker hasn't been identified yet, therefore, its etiology is still unknown.
Kozlova, A, Barabanova, O, Kuzmenko, N, Zinovieva, N, Molochnikova, O, Shcherbina, A   +5 more
openaire   +1 more source

A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report

Journal of Medical Case Reports, 2018
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 ...
Maria Zerkaoui, Fatima Zahra Laarabi, Yousra Ajhoun, Bouchra Chkirate, Abdelaziz Sefiani   +4 more
doaj   +1 more source

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still’s disease [PDF]

, 2017
BackgroundHLA-DRB1 alleles are major determinants of genetic predisposition to rheumatic diseases. We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Still’s disease (AOSD) in a Japanese ...
Asano Tomoyuki, Eguchi Katsumi, Fujikawa Keita, Furukawa Hiroshi, Ito Tomoyuki, Iwanaga Nozomi, Izumi Yasumori, Kawakami Atsushi, Kobayashi Daisuke, Kobayashi Hiroko, Koga Tomohiro, Migita Kiyoshi, Nakamura Tadashi, Nonaka Fumiaki, Ohira Hiromasa, Sato Shuzo, Shimizu Toshimasa, Suzuki Eiji, Tohma Shigeto, Tsuchiya Naoyuki, Ubara Yoshifumi, Ueki Yukitaka, Umeda Masataka, Watanabe Hiroshi, Yamasaki Satoshi, Yashiro Makiko, Yasunami Michio, Yoshiura Koh-ichiro, 古川 宏, 土屋 尚之   +29 more
core   +2 more sources

P01-006 – MEFV mutation detection in Arabic patients [PDF]

Pediatr Rheumatol Online J, 2013
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.
Taha R, Ayesh S, Kambouris M, El-Shanti H.   +3 more
europepmc   +3 more sources

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases [PDF]

, 2017
At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype.
Barcenas-Morales, G, Doffinger, R, Emery, P, McGonagle, D, Mistry, A, Savic, S, Wilson, AG   +6 more
core   +1 more source

A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients

Annals of Saudi Medicine, 2012
BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs.
Munis Dundar, Aslihan Kiraz, Elif Funda Emirogullari, Çetin Saatci, Serpil Taheri, Mevlut Baskol, Seher Polat, Yusuf Özkul   +7 more
doaj   +1 more source