Results 121 to 130 of about 6,236 (217)

The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever

, 2002
The majority of patients with familial Mediterranean fever (FMF) have identifiable mutations in both alleles of the MEFV gene, while some individuals with paired MEFV mutations do not have clinical symptoms of the disease.
Bülent Şengül, Akkoc, N, Booth, DR, Philip N Hawkins, David R Booth, Yavuzsen, TUĞBA, Nurullah Akkoç, Booth, SE, Mehmet Tunca, Tugba Ulaş Yavuzşen, Hawkins, PN, Akar, S, Susanne E Booth, Oktem, S, Sengul, B, Soyturk, MÜJDE, Müjde Soytürk, Servet Akar, Selda Öktem, Tunca, M   +19 more
core   +1 more source

MEFV gene and Kawasaki disease, Is there any association between MEFV gene mutations and Kawasaki disease?

Background and objective: Kawasaki disease (KD) is an acute febrile, self-limiting, and systemic vasculitis of unknown etiology. MEFV gene has a major role in autoinflammatory disorders and innate immune reactions. Several reports revealed that MEFV gene
حسینی اصل, سید سعید, صالح زاده, فرهاد, نعمت دوست حقی, رقیه   +2 more
core  

Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case–control study

Neuropsychiatric Disease and Treatment, 2016
Salih Coşkun,1 Sefer Varol,2 Hasan H Özdemir,2 Sercan Bulut Çelik,3 Metin Balduz,4 Mehmet Akif Camkurt,5 Abdullah Çim,1 Demet Arslan,2 Mehmet Uğur Çevik2 1Department of Medical Genetics, 2Department of Neurology,
Coskun S, Varol S, Ozdemir HH, Bulut Celik S, Balduz M, camkurt MA, Cim A, Arslan D, Cevik MU   +8 more
doaj  

THE DISTRIBUTION OF MEFV GENE MUTATIONS IN THE REFERRALS TO DEGETAM [PDF]

, 2009
Amaç: Ailesel Akdeniz atesi (FMF), Akdeniz civarındaki ülkelerde görülen otozomal resesif geçisli kalıtsal bir hastalıktır. FMF bulunan hastalar tekrarlayan atesle birlikte karın ve eklem ağrıları, artrit gibi klinik bulgular göstermektedir.
ÜLGENALP, AYFER
core  

High carrier rate and clinical associations of MEfV variants in glomerulonephritides

, 2016
Giriş ve Amaç: MEFV geninin translasyon ürünü olan pyrin inflamasyonun baskılanmasından sorumlu hücre içi regülatuar bir proteindir. MEFV geninin biallelik mutasyonları Ailevi Akdeniz Ateşi'ne (AAA) yol açmakta; AAA'nın sık görüldüğü toplumlarda ...
İlgen, Ufuk
core  

İn vivo methylation studies of MEFV gene

, 2021
MEFV geni ilk olarak serozal iltihaplanma ve karın ağrısı ile ilerleyen Ailevi Akdeniz Ateşi (AAA) hastalığıyla ilişkili gen olarak karakterize edilmiştir. En sık gözlenen MEFV mutasyonları E148Q, M680I, M694V, M694I ve V726A olup hastalıkla ilgili kromozomların %70'ini oluştururlar.
openaire   +1 more source

R202Q Mutation of Mediterranean Fever Gene in Iranian patients with Systemic-onset Juvenile Idiopathic Arthritis

Research in Molecular Medicine, 2014
Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash.
Shirin Farivar, Mahdieh Hasani, Reza Shiari   +2 more
doaj  

Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease. [PDF]

Rheumatology (Oxford)
Cam V, Cingoz E, Ercan Emreol H, Unal D, Bayindir Y, Aliyev E, Erkan MO, Banak ON, Dara Kar HD, Basaran O, Bilginer Y, Sag E, Ozen S.   +12 more
europepmc   +1 more source

Analysis Of Mefv Gene Alternatively Spliced Transcripts Expression Patterns In Cell Culture Models

, 2014
Tez (Yüksek Lisans) -- İstanbul Teknik Üniversitesi, Fen Bilimleri Enstitüsü, 2013Thesis (M.Sc.) -- İstanbul Technical University, Institute of Science and Technology, 2013Ailevi Akdeniz Ateşi (AAA), bölgemizdeki görülme sıklığı 1/200 ila 1/1073 arasında
Abacı, İrem
core  

The MEFV gene and clonal myeloid disorders

The Turkish Journal of Pediatrics, 2012
openaire   +4 more sources