The importance of M694V mutation in systemic lupus erythematosus; implications for its role in neutrophil extracellular traps associated renal involvement [PDF]
Journal of Nephropathology, 2017 Background: Systemic lupus erythematosus (SLE) is characterized by multisystem organ involvement. Enhanced neutrophil extracellular traps (NETs) formation and release as well as impaired clearance of NETs have been reported in SLE patients.
Fariba Mohebichamkhorami +2 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
P01-022 – MEFV gene mutations registered to infevers [PDF]
Pediatric Rheumatology, 2013 Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by fever and abdominal pain. 16p13.3 chromosomally located MEFV gene has been responsible for disease outcome and its protein product, Pyrin, is the key regulator protein of inflammasome complex which leads to IL-1B production and inflammation.
Berdeli, A +4 more
openaire +1 more source
Revista Brasileira de ReumatologiaAim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF).
Mustafa Ferhat Öksuz +7 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
Elevated systemic antibodies towards commensal gut microbiota in autoinflammatory condition [PDF]
, 2008 Article No.
Aminov, Rustam I +7 more
core +5 more sources
MEFV mutations in Turkish patients suffering from familial Mediterranean fever [PDF]
Human Mutation, 2000 Familial Mediterranean fever (FMF) is a recessive inherited disorder affecting Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and several disease-associated mutations have been described. We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR
N, Akar +8 more
openaire +2 more sources
MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis. [PDF]
PLoS ONE, 2017 OBJECTIVE:The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility.
Linqing Zhong +4 more
doaj +1 more source
Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3 [PDF]
, 1998 We used a combination of cDNA selection, exon amplification, and computational prediction from genomic sequence to isolate transcribed sequences from genomic DNA surrounding the familial Mediterranean fever (FMF) locus.
Adams +42 more
core +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source