Results 41 to 50 of about 6,862 (214)

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura [PDF]

Pediatric Rheumatology, 2014
Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP).
Samia Salah, Samia Rizk, Hayam M. Lotfy, Salma El Houchi, Huda Marzouk, Yomna Farag   +5 more
openaire   +2 more sources

Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1β levels. [PDF]

PLoS ONE, 2012
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 ...
Pamela R Hesker, MyTrang Nguyen, Martina Kovarova, Jenny P-Y Ting, Beverly H Koller   +4 more
doaj   +1 more source

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

Mediterranean fever gene mutations in patients with idiopathic mesangial proliferative glomerulonephritis [PDF]

Journal of Nephropathology, 2018
Background: Familial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease. Kidney involvement in FMF is usually attributed to secondary amyloidosis. Non-amyloid glomerular involvement has also been reported.
Jalal Etemadi, Taraneh Majidi, Roza Motavalli, Mortaza Bonyadi, Sepideh Zununi Vahed, Behzad Zaker, Mohammadreza Ardalan   +6 more
doaj   +1 more source

Association of MEFV mutations and vascular involvement in Behcet’s disease: a study from Hatay, Turkey

Rheumatology, 2022
Introduction In this study, we aimed to determine the frequency of MEFV mutations in Behçet’s disease (BD) and to investigate the relationship between clinical findings of the disease and the MEFV mutations.
Gamze Serarslan, Sibel Elmacıoğlu Cura, Gezmiş Kimyon, Gökhan Üçgül, Mehmet Karadağ   +4 more
doaj   +1 more source

The relation of MEFV gene variants to clinical phenotype and selected laboratory markers in Egyptian patients with familial Mediterranean fever

Journal of the Arab Society for Medical Research
Background/aim Familial Mediterranean fever (FMF) is an autoinflammatory disease, with a high prevalence in the Mediterranean region. It is brought out by variants in the MEFV gene.
Hala T. El-Bassyouni, Ghada Nour Eldeen, Mona F. Sokkar, Mohamed B. Taher, Mohammed M. Sayed-Ahmed, Iman I. Salama, Hala M. Raslan   +6 more
doaj   +1 more source

A HYPOTHETICAL ROLE FOR PLAGUE IN THE SELECTION OF MEFV MUTATION CARRIERS IN THE MEDITERRANEAN AREA

Central Asian Journal of Medical Hypotheses and Ethics, 2020
Familial Mediterranean fever (FMF) is the most common autoinflammatory disease associated with mutations in the MEFV gene encoding Pyrin. MEFV mutations are frequent in the Mediterranean region.
Ezgi Deniz Batu
doaj   +1 more source

Future perspective for diagnosis in autoimmune diseases [PDF]

, 2009
Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such ...
Andrade, Luiz Eduardo Coelho
core   +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

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report

Journal of Rheumatic Diseases
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent episodes of fever, serositis, and arthritis. It is caused by variants in the MEFV gene, which encodes the pyrin protein.
Se Rim Choi, Christopher J. Yoon, Jeong Seok Lee, Young Seok Ju, Eun Young Lee   +4 more
doaj   +1 more source