Results 61 to 70 of about 2,516,978 (116)

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

BMC Medical Genetics, 2011
Background MEFV mutations and decreased expression level of the gene are related to FMF pathology. DNA methylation at CpG islands is a well-known mechanism for transcriptional silencing.
Ozdogan Huri, Hatemi Gulen, Celikyapi Erdem Gokce, Arisoy Nil, Kasapcopur Ozgur, Kirectepe Asli K, Tahir Turanli Eda   +6 more
doaj   +1 more source

Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa

, 2007
Objectives To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene area susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without tiny ...
Arisoy, Nil, Yalcinkaya, Fatos, Oeztuerk, Aysenur, Ekim, Mesiha, Oezcakar, Z. Birsin, Kasapcopur, Oezguer, Oezen, Seza, Akar, Nejat, Bakkaloglu, Aysin   +8 more
core   +1 more source

A Brain‐Targeting Curcumin Analog Inhibits Glioblastoma Progression Through THBS1/TGF‐β1/PI3K–AKT Axis Modulation: Evidence From Experimental and Bioinformatic Analyses

Journal of Cellular and Molecular Medicine, Volume 30, Issue 5, March 2026.
ABSTRACT Glioblastoma (GBM) is the most aggressive primary brain tumour, associated with a dismal prognosis and an urgent need for innovative therapeutic strategies. To address this challenge, our group developed DMC‐GF, a novel brain‐targeted curcumin analog engineered to enhance blood–brain barrier permeability by blocking metabolic sites and ...
Zijian Han, Xuetao Li, Yang Zhu, Zhimin Wang, Yingbo Hou, Huiling Tao, Meng Ma, Xiangtong Xie, HaiYang Zhang   +8 more
wiley   +1 more source

MEFV mutations in systemic JIA [PDF]

, 2008
Background: Systemic form of juvenile idiopathic arthritis (JIA) is regarded as an autoinflammatory disease. Certain genetic polymorphisms in genes coding inflammatory proteins have been associated with the disease.
Bilginer Y, Aktay Ayaz N, Aktay Ayaz, Nuray, Ergüven M, Yılmaz, E., Bakkaloglu, A, Topaloglu, R., Ozen, Seza, Bakkaloglu A, Ozen S, Ergüven, M., Bilginer, Yelda, Topaloglu R, Yilmaz E   +13 more
core   +1 more source

Limited association of MEFV gene variants with disease severity and clinical phenotypes in children with MIS-C

Egyptian Pediatric Association Gazette
Background Multisystem inflammatory syndrome in children (MIS-C) is a post-infectious hyperinflammatory condition that develops after SARS-CoV-2 infection and may involve multiple organ systems, including the cardiovascular, hematologic, neurologic, and ...
Hala Lotfy, Heba Atef, Fatma Abd El Wahab, Sarah Ragab, Hend Abu Shady   +4 more
doaj   +1 more source

Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent

The Turkish Journal of Pediatrics, 2019
Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood.
Bahriye Atmış, Rabia Miray Kışla-Ekinci, Engin Melek, Atıl Bişgin, Mustafa Yılmaz, Ali Anarat, Aysun Karabay-Bayazıt   +6 more
doaj   +1 more source

Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever [PDF]

, 2019
FMF is an inherited autoinflammatory syndrome caused by mutations in the MEFV gene. MEFV variants are still largely classified as acvariant of uncertain significance, or with unresolved classification, posing significant challenges in FMF diagnosis. Rare
D'Uggento, Angela Maria, Portincasa, Piero, Accetturo, Matteo, Stella, Alessandro   +3 more
core   +1 more source

A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients

Annals of Saudi Medicine, 2012
BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs.
Munis Dundar, Aslihan Kiraz, Elif Funda Emirogullari, Çetin Saatci, Serpil Taheri, Mevlut Baskol, Seher Polat, Yusuf Özkul   +7 more
doaj   +1 more source

Kawasaki disease and familial mediterranean fever gene mutations, is there any link?

Open Access Rheumatology: Research and Reviews, 2019
Farhad Salehzadeh,1 Mehrdad Mirzarahimi,2 Saied Hosseini Asl,3 Roghayeh Nematdoust Haghi41Pediatric Rheumatology, Pediatric Department, Bouali Children’s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Pediatric, Pediatric
Salehzadeh F, Mirzarahimi M, Hosseini Asl S, Nematdoust Haghi R   +3 more
doaj  

Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease

Gastro Hep Advances
Background and Aims: The Mediterranean fever (MEFV) gene, which encodes a pyrin protein, is the causative gene of familial Mediterranean fever. Patients with inflammatory bowel disease (IBD) have a significantly higher frequency of MEFV mutations than ...
Tomoya Nakamura, Kohei Wagatsuma, Yuki Hayashi, Hiromu Morikubo, Daisuke Saito, Masashi Idogawa, Masanori Nojima, Jun Miyoshi, Minoru Matsuura, Tadakazu Hisamatsu, Hiroshi Nakase   +10 more
doaj   +1 more source