相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical Disease Among Patients Heterozygous for Familial Mediterranean Fever
Dina Marek-Yagel et al.
ARTHRITIS AND RHEUMATISM (2009)
Familial Mediterranean Fever With a Single MEFV Mutation Where Is the Second Hit?
Matthew G. Booty et al.
ARTHRITIS AND RHEUMATISM (2009)
Is E148Q a Benign Polymorphism or a Disease-causing Mutation?
Dina Marek-Yagel et al.
JOURNAL OF RHEUMATOLOGY (2009)
The clinical spectrum of 94 patients carrying a single mutated MEFV allele
Isabelle Kone-Paut et al.
RHEUMATOLOGY (2009)
Multiple sclerosis and the TNFRSF1A R92Q mutation Clinical characteristics of 21 cases
T. Kuempfel et al.
NEUROLOGY (2008)
Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness
Davinder Singh-Grewal et al.
ANNALS OF THE RHEUMATIC DISEASES (2007)
The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1β processing
S. Papin et al.
CELL DEATH AND DIFFERENTIATION (2007)
Pyrin levels in human monocytes and monocyte-derived macrophages regulate IL-1β processing and release
Sudarshan Seshadri et al.
JOURNAL OF IMMUNOLOGY (2007)
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
Isabelle Touitou et al.
ARTHRITIS AND RHEUMATISM (2007)
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation
F Hoffmann et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Association of the R92Q TNFRSF1A mutation and extracranial deep patients with vein thrombosis in Behcet's disease
Z Amoura et al.
ARTHRITIS AND RHEUMATISM (2005)
Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness -: The ECTIM, AXA, EVA and GENIC Studies
O Poirier et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Colchicine nonresponsiveness in familial Mediterranean fever: Clinical, genetic, pharmacokinetic, and socioeconomic characterization
M Lidar et al.
SEMINARS IN ARTHRITIS AND RHEUMATISM (2004)
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome -: A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa
S Stojanov et al.
ARTHRITIS AND RHEUMATISM (2004)
Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis
E Aganna et al.
GENES AND IMMUNITY (2004)
Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
JJ Chae et al.
MOLECULAR CELL (2003)
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
KM Hull et al.
CURRENT OPINION IN RHEUMATOLOGY (2003)
The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor κB activation pathways
C Stehlik et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2002)
Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks
C Dodé et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2002)
Genetically determined recurrent fevers
M Delpech et al.
CURRENT OPINION IN IMMUNOLOGY (2001)
Common MEFV mutations among Jewish ethnic groups in Israel:: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state
A Kogan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
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