Search Results - "Aganna, E"
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Circulating MMP9, vitamin D and variation in the TIMP‐1 response with VDR genotype: mechanisms for inflammatory damage in chronic disorders?
Published in QJM : An International Journal of Medicine (01-12-2002)“…Background: Vitamin‐D deficiency and vitamin‐D receptor genotype (VDR) are risk factors for several disorders with inflammatory components, including coronary…”
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TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre study
Published in Genes and immunity (01-12-2004)“…Tumour necrosis factor (TNF) is an important pro-inflammatory cytokine produced in sepsis. Studies examining the association of individual TNF single…”
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Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians
Published in Diabetologia (01-08-1997)“…Vitamin D has important immunomodulatory properties and prevents development of diabetes mellitus in an animal model of insulin-dependent diabetes (IDDM). We…”
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Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis
Published in Genes and immunity (01-06-2004)“…We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes…”
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Vitamin d receptor gene polymorphisms influence insulin secretion in Bangladeshi Asians
Published in Diabetes (New York, N.Y.) (01-04-1998)Get full text
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Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept
Published in Clinical and experimental immunology (01-12-2002)“…Summary Hereditary periodic fever syndromes comprise a group of distinct disease entities linked by the defining feature of recurrent febrile episodes. Hyper…”
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Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q
Published in Rheumatology (Oxford, England) (01-04-2004)Get full text
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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance
Published in European journal of human genetics : EJHG (01-01-2001)“…Mutations of the tumor necrosis factor receptor 1 (TNFRSF1A) gene underly susceptibility to a subset of autosomal dominant recurrent fevers (ADRFs). We report…”
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Genetic susceptibility to fibrocalculous pancreatic diabetes in Bangladeshi subjects: a family study
Published in Genes and immunity (01-02-2002)“…Fibrocalculous pancreatic diabetes (FCPD) is an uncommon cause of diabetes, seen mainly in developing countries. A family-based study was carried out in 67…”
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Infevers: An evolving mutation database for auto-inflammatory syndromes
Published in Human mutation (01-09-2004)“…The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about…”
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F008: Relationship between metalloproteinase9 tissue inhibitor of metalloproteinase-1 and vitamin D status: Its relevance to ischaemic heart disease in asians
Published in American journal of hypertension (01-04-2000)“…Vitamin D deficiency is associated with hypertension and cardiovascular disease. Metalloproteinases (MMP) and their tissue inhibitors (TIMP) control tissue…”
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Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement
Published in Annals of the rheumatic diseases (01-10-2004)“…Tumour necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disorder resulting from mutations in the TNFRSF1A gene, 1…”
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Calpain facilitates actin reorganization during glucose-stimulated insulin secretion
Published in Biochemical and biophysical research communications (19-01-2007)“…Calpain-10 (CAPN10) has been identified as a diabetes susceptibility gene. Previous studies have shown that alterations in calpain activity alter both glucose…”
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Interaction between smoking and the glycoprotein IIIa P1(A2) polymorphism in non-ST-elevation acute coronary syndromes
Published in Journal of the American College of Cardiology (15-11-2001)“…The goal of this study was to determine the interaction between smoking and the glycoprotein IIIa P1(A2) polymorphism in patients admitted with…”
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Spectrum of clinical features in Muckle‐Wells syndrome and response to anakinra
Published in Arthritis and rheumatism (01-02-2004)“…Objective Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle‐Wells syndrome (MWS), familial cold…”
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TNF RECEPTOR POLYMORPHISMS: RELATIONSHIP TO OUTCOME FROM SEVERE SEPSIS AND SEPTIC SHOCK: 22
Published in Shock (Augusta, Ga.) (01-09-2002)Get full text
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Pancreatitis in fibrocalculous pancreatic diabetes mellitus is not associated with common mutations in the trypsinogen gene
Published in Diabetes/metabolism research and reviews (01-11-2000)“…Background A distinct type of pancreatitis associated with diabetes, termed fibrocalculous pancreatic diabetes (FCPD), has been reported in tropical developing…”
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Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
Published in Arthritis and rheumatism (01-09-2002)“…Objective Familial cold urticaria (FCU) and Muckle‐Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever,…”
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Genetic susceptibility to fibrocalculous pancreatic diabetes in Bangladeshi subjects: a family study
Published in Genes and immunity (01-02-2002)“…Fibrocalculous pancreatic diabetes (FCPD) is an uncommon cause of diabetes, seen mainly in developing countries. A family-based study was carried out in 67…”
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Journal Article