Published in Arthritis Rheum on September 01, 2005
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood (2006) 1.61
Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther (2007) 1.02
A pro-inflammatory signalome is constitutively activated by C33Y mutant TNF receptor 1 in TNF receptor-associated periodic syndrome (TRAPS). Eur J Immunol (2014) 0.90
Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Dermatoendocrinol (2010) 0.86
Tumour necrosis factor receptor trafficking dysfunction opens the TRAPS door to pro-inflammatory cytokine secretion. Biosci Rep (2012) 0.85
TWEAK-independent Fn14 self-association and NF-κB activation is mediated by the C-terminal region of the Fn14 cytoplasmic domain. PLoS One (2013) 0.85
Gene therapy with an improved doxycycline-regulated plasmid encoding a tumour necrosis factor-alpha inhibitor in experimental arthritis. Arthritis Res Ther (2007) 0.85
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway. Arthritis Res Ther (2015) 0.84
A novel hybrid promoter responsive to pathophysiological and pharmacological regulation. J Mol Med (Berl) (2011) 0.80
Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders. PLoS One (2013) 0.79
Differences between disease-associated endoplasmic reticulum aminopeptidase 1 (ERAP1) isoforms in cellular expression, interactions with tumour necrosis factor receptor 1 (TNF-R1) and regulation by cytokines. Clin Exp Immunol (2015) 0.75
Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond. Semin Immunopathol (2015) 0.75
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity (2004) 13.55
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum (2004) 7.07
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med (2003) 3.86
Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes (2006) 3.79
Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate. Diabetes (2006) 3.51
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet (2005) 2.66
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum (2002) 2.58
p38(MAPK): stress responses from molecular mechanisms to therapeutics. Trends Mol Med (2009) 2.44
A proposed classification of the immunological diseases. PLoS Med (2006) 2.43
Primer: inflammasomes and interleukin 1beta in inflammatory disorders. Nat Clin Pract Rheumatol (2008) 2.17
Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat (2004) 2.07
Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. PLoS One (2010) 1.93
Targets of statin therapy: LDL cholesterol, non-HDL cholesterol, and apolipoprotein B in type 2 diabetes in the Collaborative Atorvastatin Diabetes Study (CARDS). Clin Chem (2009) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes (2008) 1.64
Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2008) 1.61
Targeting cytokines to inflammation sites. Nat Biotechnol (2003) 1.60
Vitamin D receptor (VDR) mRNA and VDR protein levels in relation to vitamin D status, insulin secretory capacity, and VDR genotype in Bangladeshi Asians. Diabetes (2002) 1.54
Inflammasomes and autoimmunity. Trends Mol Med (2010) 1.53
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum (2003) 1.51
Effects of atorvastatin on kidney outcomes and cardiovascular disease in patients with diabetes: an analysis from the Collaborative Atorvastatin Diabetes Study (CARDS). Am J Kidney Dis (2009) 1.45
Biodistribution, long-term survival, and safety of human adipose tissue-derived mesenchymal stem cells transplanted in nude mice by high sensitivity non-invasive bioluminescence imaging. Stem Cells Dev (2008) 1.42
Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations. Hum Mol Genet (2007) 1.40
Histone deacetylases are dysregulated in rheumatoid arthritis and a novel histone deacetylase 3-selective inhibitor reduces interleukin-6 production by peripheral blood mononuclear cells from rheumatoid arthritis patients. Arthritis Rheum (2012) 1.39
Evidence of NLRP3-inflammasome activation in rheumatoid arthritis (RA); genetic variants within the NLRP3-inflammasome complex in relation to susceptibility to RA and response to anti-TNF treatment. Ann Rheum Dis (2013) 1.37
Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am J Hum Genet (2001) 1.32
Mannose-binding lectin polymorphisms in severe sepsis: relationship to levels, incidence, and outcome. Shock (2006) 1.26
Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet (2005) 1.21
The role of the NLRP3 inflammasome in gout. J Inflamm Res (2011) 1.21
A novel biological activity for galectin-1: inhibition of leukocyte-endothelial cell interactions in experimental inflammation. Am J Pathol (2003) 1.20
Levels and changes of HDL cholesterol and apolipoprotein A-I in relation to risk of cardiovascular events among statin-treated patients: a meta-analysis. Circulation (2013) 1.20
SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. Am J Hum Genet (2002) 1.19
Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a). J Lipid Res (2012) 1.17
Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases. Curr Opin Rheumatol (2012) 1.15
Successful treatment of resistant pseudogout with anakinra. Arthritis Rheum (2008) 1.13
Vitamin D3 down-regulates intracellular Toll-like receptor 9 expression and Toll-like receptor 9-induced IL-6 production in human monocytes. Rheumatology (Oxford) (2010) 1.13
The differential contribution of tumour necrosis factor to thermal and mechanical hyperalgesia during chronic inflammation. Arthritis Res Ther (2005) 1.13
An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci (2010) 1.12
Evidence that an isoform of calpain-10 is a regulator of exocytosis in pancreatic beta-cells. Mol Endocrinol (2004) 1.10
Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum (2004) 1.08
Class II phosphoinositide 3-kinase regulates exocytosis of insulin granules in pancreatic beta cells. J Biol Chem (2010) 1.08
Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes (2004) 1.07
The major histocompatibility complex origin. Immunol Rev (2004) 1.07
Hereditary auto-inflammatory disorders and biologics. Springer Semin Immunopathol (2006) 1.06
An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum. Pediatr Res (2009) 1.02
Erythropoietin-induced changes in brain gene expression reveal induction of synaptic plasticity genes in experimental stroke. Proc Natl Acad Sci U S A (2012) 1.02
Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2009) 1.02
Anti-TNF treatment in rheumatoid arthritis. Curr Pharm Des (2011) 1.01
Multiplexing immunoassays for cytokine detection in the serum of patients with rheumatoid arthritis: lack of sensitivity and interference by rheumatoid factor. Clin Exp Rheumatol (2012) 0.99
Canakinumab, a fully-human mAb against IL-1beta for the potential treatment of inflammatory disorders. Curr Opin Mol Ther (2009) 0.98
Calpain-10: from genome search to function. Diabetes Metab Res Rev (2005) 0.96
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. J Cutan Med Surg (2008) 0.96
Genetic variants within the MAP kinase signalling network and anti-TNF treatment response in rheumatoid arthritis patients. Ann Rheum Dis (2010) 0.96
Haplotype combinations of calpain 10 gene polymorphisms associate with increased risk of impaired glucose tolerance and type 2 diabetes in South Indians. Diabetes (2002) 0.96
The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes (2006) 0.96
NOD-like receptors and inflammation. Arthritis Res Ther (2008) 0.95
High extracellular glucose inhibits exocytosis through disruption of syntaxin 1A-containing lipid rafts. Biochem Biophys Res Commun (2009) 0.95
Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes (2004) 0.94
An immunohistochemical study of uveodermatologic syndrome in two Japanese Akita dogs. Vet Ophthalmol (2005) 0.94
Vitamin D metabolism in peripheral blood mononuclear cells is influenced by chewing "betel nut" (Areca catechu) and vitamin D status. J Clin Endocrinol Metab (2006) 0.92
Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives. Best Pract Res Clin Rheumatol (2012) 0.92
The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med (2005) 0.91
Dual luciferase labelling for non-invasive bioluminescence imaging of mesenchymal stromal cell chondrogenic differentiation in demineralized bone matrix scaffolds. Biomaterials (2009) 0.91
Emerging functions of the calpain superfamily of cysteine proteases in neuroendocrine secretory pathways. J Neurochem (2007) 0.91
The NLRP3 inflammasome, a target for therapy in diverse disease states. Eur J Immunol (2010) 0.91
Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes (2003) 0.91
Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap). Biologics (2008) 0.91
Polymorphic variations in the neurogenic differentiation-1, neurogenin-3, and hepatocyte nuclear factor-1alpha genes contribute to glucose intolerance in a South Indian population. Diabetes (2004) 0.90
Lumenal protein sorting to the constitutive secretory pathway of a regulated secretory cell. J Cell Sci (2006) 0.90
Endogenous GATA factors bind the core sequence of the tetO and influence gene regulation with the tetracycline system. Mol Ther (2004) 0.89
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. BMC Med Genet (2006) 0.89
Calpain facilitates actin reorganization during glucose-stimulated insulin secretion. Biochem Biophys Res Commun (2006) 0.89
Human single-chain variable fragment that specifically targets arthritic cartilage. Arthritis Rheum (2010) 0.88