Results 31 to 40 of about 6,862 (214)

Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. [PDF]

PLoS ONE, 2009
BACKGROUND:Fibromyalgia syndrome (FMS), a common, chronic, widespread musculoskeletal pain disorder found in 2% of the general population and with a preponderance of 85% in females, has both genetic and environmental contributions.
Jinong Feng, Zhifang Zhang, Wenyan Li, Xiaoming Shen, Wenjia Song, Chunmei Yang, Frances Chang, Jeffrey Longmate, Claudia Marek, R Paul St Amand, Theodore G Krontiris, John E Shively, Steve S Sommer   +12 more
doaj   +1 more source

Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [PDF]

, 2008
Objectives: To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site.
B H Belohradsky, C Dejaco, C Duftner, K Huss, M Herold, M Schirmer, P Lohse, S Stojanov   +7 more
core   +1 more source

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

Case Reports in Pediatrics, 2021
Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality.
Tomonobu Sato, Shunichiro Takezaki, Takeru Goto, Shinichi Ishikawa, Kazumi Oura, Asuka Takahata, Haruki Shiraishi, Yuji Maruo, Norio Sato, Takashi Suganuma, Makoto Mikawa   +10 more
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

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

Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3 [PDF]

, 1998
We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial Mediterranean fever (FMF) locus.
Adams, Aksentijevich, Andrea Cercek, Anil Vedula, Antequera, Buckland, Calabro, Chen, Dahl, Daniel L. Kastner, Darrell O. Ricke, David F. Callen, David Krizman, Deborah Gumucio, Elizabeth Mansfield, Francis S. Collins, Geryl Wood, Huebner, Ivona Aksentijevich, Jingmei Liu, Kulp, Lancet, Melanie Hamon, Michael Centola, Nathan Fischel-Ghodsian, Neil Richards, Neta Shafran, Norman A. Doggett, Nurit Zaks, P. Paul Liu, Pras, Puder, Raman Sood, Robert I. Richards, Robert K. Moyzis, Sinoula Apostolou, Tanaz Kahan, Trevor Blake, Xiang Chen, Xiaoguang Chen, Yasuda, Yokoyama, Zuoming Deng   +42 more
core   +1 more source

P01-022 – MEFV gene mutations registered to infevers [PDF]

Pediatric Rheumatology, 2013
Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by fever and abdominal pain. 16p13.3 chromosomally located MEFV gene has been responsible for disease outcome and its protein product, Pyrin, is the key regulator protein of inflammasome complex which leads to IL-1B production and inflammation.
Berdeli, A, Nalbantoglu, S, Tigli, D, Demirel, I, Atan, M   +4 more
openaire   +1 more source

Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. [PDF]

PLoS Genetics, 2019
Ankylosing spondylitis (AS) is a highly heritable immune-mediated arthritis common in Turkish and Iranian populations. Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease most common in people of Mediterranean origin ...
Zhixiu Li, Servet Akar, Handan Yarkan, Sau Kuen Lee, Pınar Çetin, Gerçek Can, Gökce Kenar, Fernur Çapa, Omer Nuri Pamuk, Yavuz Pehlivan, Katie Cremin, Erika De Guzman, Jessica Harris, Lawrie Wheeler, Ahmadreza Jamshidi, Mahdi Vojdanian, Elham Farhadi, Nooshin Ahmadzadeh, Zeynep Yüce, Ediz Dalkılıç, Dilek Solmaz, Berrin Akın, Salim Dönmez, İsmail Sarı, Paul J Leo, Tony J Kenna, Fatos Önen, Mahdi Mahmoudi, Matthew A Brown, Nurullah Akkoc   +29 more
doaj   +1 more source

Elevated systemic antibodies towards commensal gut microbiota in autoinflammatory condition [PDF]

, 2008
Article No.
Aminov, Rustam I, Arakelova, Karine A, Ghazaryan, Karine A, Grant, George, Kelly, Denise, Khachatryan, Zaruhi A, Ktsoyan, Zhanna A, Manukyan, Gayane P   +7 more
core   +5 more sources

Existe uma relação entre a artrite gotosa e as mutações genéticas da febre familiar do Mediterrâneo?

Revista Brasileira de Reumatologia, 2015
RESUMOObjetivoA artrite gostosa e a febre familiar do Mediterrâneo (FFM) compartilham algumas características clínicas e patológicas, como ser classificada como uma doença autoimune inflamatória, ter associação com o inflamassoma, manifestar artrite ...
Ismail Sari, Ismail Simsek, Yusuf Tunca, Bunyamin Kisacik, Hakan Erdem, Salih Pay, Hasan Fatih Cay, Davut Gul, Ayhan Dinc   +8 more
doaj   +1 more source