Results 71 to 80 of about 1,294,883 (245)

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]

open access: yes, 2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G   +8 more
core  

Obesity‐Associated TRIM15 Promotes the Proliferation of Esophageal Adenocarcinoma Through the YY2/FOXRED1 Axis

open access: yesAdvanced Science, Volume 13, Issue 4, 19 January 2026.
The study identifies TRIM15 as a key driver in the development of obesity‐associated esophageal adenocarcinoma (EAC). Mechanistically, TRIM15 degrades YY2 through the proteasome pathway, suppressing FOXRED1 transcription and ultimately accelerating tumor proliferation.
Haohui Wang   +10 more
wiley   +1 more source

Evaluation of the Effect of IL‐1 Antagonists on Pituitary Function

open access: yesInternational Journal of Endocrinology, Volume 2026, Issue 1, 2026.
Background Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease frequently observed in populations along the Eastern Mediterranean coast, characterized by recurrent fever, abdominal pain, and joint inflammation. The disease results from mutations in the MEFV gene, which plays a critical role in regulating IL‐1β secretion ...
Fadime Aktas Koc   +3 more
wiley   +1 more source

Inflammation and genetics in myo‐pericardial diseases: Insights from the Italian Study Group on Cardiomyopathies and Pericardial Diseases

open access: yesESC Heart Failure, Volume 12, Issue 6, Page 3987-3999, December 2025.
Proposed management of myo‐pericardial diseases. A systematic interdisciplinary approach to myo‐pericardial disease is essential to reach a correct diagnosis, starting from multiparametric characterization including EKG, echocardiography with GLS, laboratory exams and CMR or, in case of electric or haemodynamic instability, EMB.
Marco Merlo   +18 more
wiley   +1 more source

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

open access: yesAnnals of Saudi Medicine, 2019
BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin.
Malik Ejder Yildirim   +6 more
doaj   +1 more source

Analysis of the mutations in exon 10 of MEFV gene in patients with premature coronary heart disease in west Azerbaijan province of Iran [PDF]

open access: yesJournal of Cardiovascular and Thoracic Research, 2018
Introduction: Premature coronary heart disease (PCHD) affects public health and leads to death. PCHD has several genetic and environmental risk factors. The aim of this study was to analysis of the mutations in exon 10 of MEFV gene in patients with PCHD ...
Morteza Bagheri   +7 more
doaj   +1 more source

Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behçet's syndrome patients [PDF]

open access: yes, 2017
The role of mutations in NLRP3 in inflammatory features of Behçet's ...
Akdiş, Cezmi   +8 more
core  

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. [PDF]

open access: yes, 2015
PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown.
Bedoni, N.   +6 more
core   +3 more sources

Real‐Time Evolutionary Landscape of the Bronchial Epithelium and Corresponding Dynamic Immune Cell Alterations in Lung Squamous Cell Carcinogenesis

open access: yesAdvanced Science, Volume 12, Issue 31, August 21, 2025.
Lung squamous cell carcinoma (LUSC) is often preceded by sequential premalignant lesions with an increasing probability of malignant progression. Using single‐cell RNA sequencing, the dynamic cellular evolution from normal lung to LUSC tissues is delineated; clonal structure of premalignant and malignant epithelium is reveled; the conversion of immune ...
Baohong Luo   +16 more
wiley   +1 more source

Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed

open access: yesChildren, 2022
Objectives: the aim of this study was to describe the genetic and clinical features of familial Mediterranean fever (FMF) in a group of Egyptian children. Materials and methods: This cross-sectional observational study included 65 children diagnosed with
Ahmed Omran   +5 more
doaj   +1 more source

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