Results 21 to 30 of about 4,057 (128)

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

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

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

MEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Center

Haseki Tıp Bülteni
Aim: Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood, but its pathogenesis is largely unknown, despite evidence pointing to various environmental and genetic factors. We investigated the frequency of MEFV gene mutations that
Sema Yildirim, Zeynep Karakaya, Ozlem Ozcay, Muferet Erguven   +3 more
doaj   +1 more source

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study

The Turkish Journal of Pediatrics
Background. The aim of this study was to investigate whether a short exon screening consisting of selected variants could confirm the diagnosis in patients with a preliminary diagnosis of familial Mediterranean fever (FMF), thus providing a cost-saving ...
Betül Sözeri, Şengül Çağlayan, Taner Coşkuner, Yasemin Kendir-Demirkol   +3 more
doaj   +1 more source

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

PLoS ONE, 2009
Background and aimsThe familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1beta processing. Pyrin has been shown to interact with the gene product of NLRP3,
Alexandra-Chloé Villani, Mathieu Lemire, Edouard Louis, Mark S Silverberg, Catherine Collette, Geneviève Fortin, Elaine R Nimmo, Yannick Renaud, Sébastien Brunet, Cécile Libioulle, Jacques Belaiche, Alain Bitton, Daniel Gaudet, Albert Cohen, Diane Langelier, John D Rioux, Ian D R Arnott, Gary E Wild, Paul Rutgeerts, Jack Satsangi, Séverine Vermeire, Thomas J Hudson, Denis Franchimont   +22 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

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

Long‐term echocardiographic findings in patients with idiopathic recurrent pericarditis treated with anakinra

Internal Medicine Journal, Volume 56, Issue 6, Page 1043-1050, June 2026.
Abstract Aim Idiopathic recurrent pericarditis (IRP) is considered an autoinflammatory disease, and interleukin 1 inhibitors, such as anakinra, are used to treat resistant cases. Constrictive pericarditis, a feared complication, continues to be a critical concern. In the biologic era, evidence on long‐term transthoracic echocardiographic (TTE) findings
Zeynep Toker Dincer, Damla Raimoglou, Erkin Yilmaz, Ayten Dag, Melike Melikoglu, Serdal Ugurlu   +5 more
wiley   +1 more source

The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever

Indian Journal of Rheumatology, 2019
Introduction: In this study, we aimed to characterize the effect of methylation on clinical diversity and gene expression levels in familial Mediterranean fever.
Eser Dogan, Semra Gursoy, Giray Bozkaya, Secil Arslansoyu Camlar, Ozge Aksel Kilicarslan, Alper Soylu, Ayfer Ulgenalp, Salih Kavukcu, Ozlem Giray Bozkaya   +8 more
doaj   +1 more source