Results 91 to 100 of about 6,939 (203)
Advanced Science, Volume 12, Issue 34, September 11, 2025.Single‐cell RNA sequencing reveals distinct immune responses to FLASH versus conventional dose rate irradiation in early radiation‐induced lung injury. FLASH irradiation reduces Ccrl2⁺ neutrophil infiltration, activates CD4⁺ CD40L⁺ Th cells, restrains pro‐inflammatory Mefv⁺ monocytes, and enhances epithelial repair via TGF‐β signaling, underscoring its
Hao Lu +10 more
wiley +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 +7 more
doaj +1 more source
Advanced 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
DAPSONE AS AN ALTERNATIVE THERAPY IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER [PDF]
Objective: Familial Mediterranan Fever is an hereditary autoinflammatory disease that presents with recurrent febrile attacks and poly serositis. Colchicine is the only known treatment in this diease.
جهانگیری, سپیده +2 more
core
Prenatal Diagnosis, Volume 45, Issue 9, Page 1151-1159, August 2025.ABSTRACT Objective Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X‐linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health.
Yan Lü +9 more
wiley +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 +6 more
doaj +1 more source
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study [PDF]
, 2015 Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis.
Athanasakis, Emmanouil +10 more
core +3 more sources
Balkan Journal of Medical Genetics, 2016 The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation.
Battal F +8 more
doaj +1 more source
Autoinflammatory diseases: Update on classification diagnosis and management [PDF]
, 2017 The spectrum of systemic autoinflammatory disorders broadens continually. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases.
McDermott, MF, Pathak, S, Savic, S
core +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 +3 more
doaj