Results 41 to 50 of about 8,365 (219)

Genetic Analysis of MEFV Gene Pyrin Domain in Patients With Behçet's Disease

Mediators of Inflammation, 2006
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.
Ahmet Dursun, Hatice Gul Durakbasi-Dursun, Ayse Gul Zamani, Zerrin Gülin Gulbahar, Recep Dursun, Cengiz Yakicier   +5 more
doaj   +2 more sources

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

Concave Pattern of a Maximal Expiratory Flow-Volume Curve: A Sign of Airflow Limitation in Adult Bronchial Asthma

Pulmonary Medicine, 2012
Background. In patients with bronchial asthma, spirometry could identify the airflow limitation of small airways by evaluating the concave shape of the maximal expiratory flow-volume (MEFV) curve.
Akihiko Ohwada, Kazuhisa Takahashi
doaj   +1 more source

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

MEFV mutations - therapeutic guides or red herrings? [PDF]

Pediatric Rheumatology, 2015
Background/question Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder characterised by self-resolving attacks of fever and serositis common in populations from Mediterranean ancestry [1]. Mutations affecting MEFV gene is believed to be responsible for the disease phenotype[1]. The correlation between the genotype and phenotype is
Warrier, K, Cliffe, L, McDermott, L, Rangaraj, S   +3 more
openaire   +1 more source

Decreased MEFV gene expression in rheumatoid arthritis patients

Genetics and Molecular Research, 2015
Rheumatoid arthritis (RA) is a major cause of adult chronic inflammatory arthritis and an autoimmune disease of unknown etiology in which the inflammatory pathology involves T cell activation. Genetic mutations in the Mediterranean fever (MEFV) gene, encoding pyrin, influence the severity of RA, but the underlying mechanisms are not completely ...
E O, Etem, S S, Koca, D, Erol, S, Yolbas, E, Oz, H, Elyas, A, Isık   +6 more
openaire   +2 more sources

PFAPA SENDROMUNDA MEFV MUTASYONLARININ HASTALIK ÜZERİNE ETKİSİ

Turkish Journal of Pediatric Disease, 2020
Amaç: Kalıtsal olmayan otoinflamatuvar hastalıklardan biri olarak sınıflandırılan PFAPA (Periodic fever, apthous stomatitis, pharyngitis and cervical adenitis) sendromu; periyodik ateş, farenjit, servikal lenfadenit ve stomatit ile seyretmektedir. PFAPA sendromunun tanısı bir dışlama tanısıdır.
Semanur Özdel, Esra Bağlan, Mehmet Bülbül   +2 more
openaire   +3 more sources

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

The Role of NLRP1, AIM2 and MEFV Inflammasomes in the High‐Intensity Interval Training of Individuals With Obesity

Immunology, EarlyView.
This study shows that 8 weeks of high‐intensity interval training (HIIT) modulate inflammasome‐related gene expression in individuals with obesity. HIIT increased AIM2, MEFV, CARD16 and CARD18 expression, with CARD16 upregulation supporting reduced inflammation through inhibition of caspase‐1 activation and lower IL‐1β levels.
Ana Luíza Pereira Assunção Silveira, Daniela Alves de Abreu, Amanda de Lima Santos Musto, Luiz Henrique da Silva Nali, Jônatas Bussador do Amaral, André Luis Lacerda Bachi, Marina Tiemi Shio, Paula Rezende‐Teixeira, Carolina Nunes França   +8 more
wiley   +1 more source

Комплексний аналіз кореляції генотипу-фенотипу при діагностиці синдрому недиференційованої рецидивної гарячки в дітей

Сучасна педіатрія: Україна
Синдром недиференційованої рецидивної гарячки (syndrome of undiferentiated recurrent fever - SURF) - це гетерогенна група автозапальних захворювань, які характеризуються епізодами системного запалення, не мають підтвердженого молекулярного діагнозу та не
O.R. Boyarchuk
doaj   +1 more source