Results 111 to 120 of about 1,294,883 (245)

MEFV gen mutation analysis in patient with idiopatic uveitis [PDF]

Introduction : FMF is an autosomal recessive disease that have high prevalence in the Mediterranean region. Common Clinical findings in FMF included abdominal pain, fever, arthritis, myalgia and pleuritis.
صالح زاده, فرهاد, پیری, نیلوفر, یثربی, سیده عذرا   +2 more
core   +1 more source

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-940, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +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

MCC950/CRID3 potently targets the NACHT domain of wild-type NLRP3 but not disease-associated mutants for inflammasome inhibition [PDF]

, 2019
The nucleotide-binding-domain (NBD)-and leucine-rich repeat (LRR)-containing (NLR) family, pyrin-domain-containing 3 (NLRP3) inflammasome drives pathological inflammation in a suite of autoimmune, metabolic, malignant, and neurodegenerative diseases ...
Demon, Dieter, Fossoul, Amelie, Kayagaki, Nobuhiko, Konvalinka, Jan, Kostka, Libor, Lamkanfi, Mohamed, Lee, Bettina L, Pham, Victoria C, Sacha, Pavel, Simon, Petr, Staben, Steven T, Stivala, Craig E, Stowe, Irma B, Subrt, Vladimir, Van Hauwermeiren, Filip, Vande Walle, Lieselotte, Viana Saavedra, Pedro Henrique, Yamazoe, Sayumi   +17 more
core   +1 more source

Acute Hepatitis in a Child Heterozygous for the I259V MEFV Gene Variant

Prague Medical Report, 2014
Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation.
Flora Tzifi, Philip Hawkins, Erato Atsali, Doxa Kotzia, Achilleas Attilakos   +4 more
doaj   +1 more source

GSDMD is critical for autoinflammatory pathology in a mouse model of Familial Mediterranean Fever [PDF]

, 2018
Pyroptosis is an inflammasome-induced lytic cell death mode, the physiological role of which in chronic inflammatory diseases is unknown. Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, affecting an ...
Chi, Hongbo, Kambara, Hiroto, Kanneganti, Apurva, Lamkanfi, Mohamed, Luo, Hongbo R, Malireddi, RK Subbarao, Tillman, Heather, Van Gorp, Hanne, Vande Walle, Lieselotte, Viana Saavedra, Pedro Henrique, Vogel, Peter, Xavier, Ramnik J   +11 more
core   +1 more source

Diagnostic Challenges in Atypical Familial Mediterranean Fever: Enhancing Diagnostic Accuracy Through Clinical and Genetic Criteria

JGH Open, Volume 9, Issue 3, March 2025.
Marouf Alhalabi, Hussam Aldeen Alshiekh
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages

International Journal of Molecular Sciences
Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by inherited mutations in the MEFV (Mediterranean FeVer) gene, located on chromosome 16 (16p13.3) and encoding the pyrin protein.
E. Grigor’eva, Lana V Karapetyan, A. Malakhova, S. Medvedev, J. Minina, Varduhi Hayrapetyan, Valentina Vardanyan, S. Zakian, Arsen Arakelyan, Roksana Zakharyan   +9 more
semanticscholar   +1 more source

An adult case of atypical familial Mediterranean fever (pyrin‐associated autoinflammatory disease) similar to adult‐onset Still’s disease

Clinical Case Reports, 2019
Key Clinical Message We present a 55‐year‐old woman with periodic fever and symptoms similar to adult‐onset Still's disease (AOSD). She had a heterogeneous mutation of the MEFV gene and colchicine was effective.
Hayato Tsuruma, Hiroe Sato, Eriko Hasegawa, Yukiko Nozawa, Takeshi Nakatsue, Yoko Wada, Takeshi Kuroda, Yoshiki Suzuki, Masaaki Nakano, Ichiei Narita   +9 more
doaj   +1 more source