Results 21 to 30 of about 2,516,978 (116)

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

Pathways of Epithelial Barrier Breakdown and Remodeling in Esophageal Organoids by Commonly Used Surfactants

Allergy, EarlyView.
This study shows that SDS and CAPB directly impair esophageal epithelial barrier integrity in primary EoE‐derived models. SDS induces stronger inflammatory, oxidative stress, and keratinization responses than CAPB. Both surfactants promote epithelial remodeling and partial epithelial‐mesenchymal transition (EMT), with CAPB showing a distinct ...
Ozge Ardicli, Duygu Yazici, Huseyn Babayev, Yagiz Pat, Manal Bel Imam, Hang Du, Hassan Melhem, Carina Beha, Laura Buergi, Anja Heider, Juan‐Felipe López, Sena Ardicli, Can Zeyneloğlu, Andrea Kreienbühl, Nino Stocker, Patrick Westermann, Christoph B. Messner, Mübeccel Akdis, Jan Hendrik Niess, Alain Schoepfer, Luc Biedermann, Cezmi A. Akdis, Swiss EoE Cohort Study Group, Patrick Aepli, Luc Biedermann, Ruggero Biral, Carine Blanchard, Lorenzo Botteselle, Simon Buetikofer, Emanuel Burri, Joachim Diebold, Annika Eckhold, Annett Franke, Michèle Frei, Thomas Greuter, Chantal Hasler, Wolfram Jochum, Tanja Kilchmann, Seraina Koller, Andrea Kreienbühl, Fritz Murray, Peter Netzer, Gabrielle Reichhart, Elodie Ristorcelli, Gerhard Rogler, Jean‐Benoit Rossel, Ekaterina Safroneeva, Catherine Saner, Christoph Schlag, Jon‐Duri Senn, Alain Schoepfer, Philipp Schreiner, Christine Sempoux, Dagmar Simon, Hans‐Uwe Simon, Alex Straumann, Sven Trelle, Achim Weber, Niels Willi, Marcel Zwahlen, Willem van de Veen   +60 more
wiley   +1 more source

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

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

AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral‐centre study

Journal of Internal Medicine, EarlyView.
Abstract Background AA amyloidosis (AAA) remains a life‐threatening yet largely preventable complication of monogenic autoinflammatory diseases (AIDs). Methods We retrospectively described patients with AAA secondary to one of the four historical monogenic AIDs (familial Mediterranean fever [FMF], cryopyrin‐associated periodic syndrome [CAPS ...
Majdouline El Moussaoui, Léa Savey, Hassina Sofia Aloui‐Belhocine, Jean‐Jacques Boffa, Marion Delplanque, Catherine Grandpeix‐Guyodo, Irina Giurgea, Laurence Cuisset, Guilaine Boursier, Gilles Grateau, David Buob, Sophie Georgin‐Lavialle   +11 more
wiley   +1 more source

patients-MEFV-20180510.xlsx

, 2019
MEFV muations in sJIA ...
Linqing Zhong (7520165)
core   +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

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

Apigenin Alleviates Pyroptosis in Lung Adenocarcinoma Cells by Modulating TNF‐α/NF‐κB Signaling and AIM2 Inflammasome Activation

Thoracic Cancer, Volume 17, Issue 17, September 2026.
Apigenin attenuated CCCP/FeSO4‐induced injury and pyroptosis‐associated molecular changes in A549 cells by suppressing TNF‐α/NF‐κB signaling and reducing AIM2/ASC‐associated protein expression. Integrated network pharmacology, molecular docking, molecular dynamics simulations, and LUAD transcriptomic analyses further prioritized TNF and AIM2 as ...
Kairui Zhu, Yulong Mu, Zhenguo Su, Zhen Yue, Dongyang Wu, Guiwu Qu, Chenyang Jiang, Qing Li, Youjie Li, Ning Xie   +9 more
wiley   +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