نتایج جستجو برای: mefv genotype

تعداد نتایج: 92495  

Journal: :The European respiratory journal 1988
W Van Pelt P H Quanjer G J Borsboom R Van der Lende

Information on the size and shape of about 8500 maximum expiratory flow-volume (MEFV) curves was related multivariately to respiratory symptoms to construct a sensitive measure of airflow limitation. The data were obtained in an epidemiological follow-up study of a normal population in The Netherlands. Using non-linear canonical correlation analysis, thirteen variables from each curve yielded t...

2012
Pamela R. Hesker MyTrang Nguyen Martina Kovarova Jenny P.-Y. Ting Beverly H. Koller

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by unprovoked episodes of fever and inflammation. The associated gene, MEFV (Mediterranean Fever), is expressed primarily by cells of myeloid lineage and encodes the protein pyrin/TRIM20/Marenostrin. The mechanism by which mutations in pyrin alter protein function to cause episodic inflammation is controv...

Journal: :Clinical and experimental rheumatology 2011
Yoav Baruch Efrat Dagan Itzhak Rosner Massimo Fiorilli Ruth Gershoni-Baruch Michael Rozenbaum

OBJECTIVES Given the pathological similarities between Behçet's disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn's disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent. METHODS Fifty-four BD patients (11 Jews and 43 Arabs), evaluat...

2017
Linqing Zhong Hongmei Song Wei Wang Ji Li Mingsheng Ma

OBJECTIVE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. METHODS Two investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. ...

Journal: :Clinical and experimental rheumatology 2005
G Espinosa J I Arostegui S Plaza J Rius R Cervera J Yagüe J Font

OBJECTIVE Mutations in the MEFV and the type 1 TNF receptor (TNFRSF 1A) genes have recently been linked to familial Mediterranean fever (FMF) and TNF receptor-associated periodic syndrome (TRAPS), respectively. A higher prevalence of Behçet's disease (BD) among FMF patients has been described compared to the general population. The aim of this study was to evaluate whether FMF TRAPS and BD coul...

Journal: :Human molecular genetics 2000
S Papin P Duquesnoy C Cazeneuve J Pantel M Coppey-Moisan C Dargemont S Amselem

Mutations in MEFV, a gene encoding a protein (marenostrin/pyrin) of unknown function, are associated with familial Mediterranean fever, a genetic condition characterized by febrile episodes of serosal inflammation. Based on its primary structure, this 781 residue protein is thought to function as a nuclear effector molecule. However, recent transient expression studies indicated a perinuclear c...

2015
N Toplak M Debeljak T Avcin

Results Fifteen patients (8 male, 7 female) from Eastern / Central European population with median age at disease onset 4 years (range 1.5-17) and median age at MEFV testing 8 years (range 3-17) were included; 9/15 patients with mutations in exon 10 (M694V, K695R, A744S, S730F), 3/15 with mutations in exon 3 (P369S/R408E, P369S/ R408Q) and 3/15 with mutations in exon 2 (E148Q, A289E). One patie...

Journal: :Annals of human genetics 2008
V P Papadopoulos S Giaglis I Mitroulis K Ritis

Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and Phylip 3.2 software were used for population genetics analysis and phylogeneti...

Journal: :Chest 2001
Y Villaran M E Sekela N K Burki

BACKGROUND A biphasic-plateau pattern in the maximal expiratory flow-volume (MEFV) curve has been described after single-lung transplantation (SLT) in patients with chronic airways obstruction (CAO). It has been theorized that this pattern is either related to stenosis at the anastomotic or subanastomotic site, or the sum of the airflow contribution from the native lung with airways obstruction...

2016
Jelena Milenković Jelena Vojinović Maruša Debeljak Nataša Toplak Dragana Lazarević Tadej Avčin Tatjana Jevtović-Stoimenov Dušica Pavlović Vladmila Bojanić Maja Milojković Gordana Kocić Andrej Veljković

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 other monogenic and multifactorial autoinflammatory diseases. The aim of the study was to determine if healthy carriers of MEFV gene mutations ...

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