Search Results - "Begovich, Ann"
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A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes
Published in American journal of human genetics (01-02-2007)“…We performed a multitiered, case-control association study of psoriasis in three independent sample sets of white North American individuals (1,446 cases and…”
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Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways
Published in Nature genetics (01-02-2009)“…Psoriasis is a common immune-mediated disorder that affects the skin, nails and joints. To identify psoriasis susceptibility loci, we genotyped 438,670 SNPs in…”
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Unraveling the genetics of complex diseases: Susceptibility genes for rheumatoid arthritis and psoriasis
Published in Seminars in immunology (01-12-2009)“…Abstract Talk of numerous genetic risk factors for rheumatoid arthritis (RA) and psoriasis has been percolating for years, but with the exception of the human…”
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Multiple Loci within the major histocompatibility complex confer risk of psoriasis
Published in PLoS genetics (01-08-2009)“…Psoriasis is a common inflammatory skin disease characterized by thickened scaly red plaques. Previously we have performed a genome-wide association study…”
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REL, encoding a member of the NF-[kappa]B family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
Published in Nature genetics (01-07-2009)“…We conducted a genome-wide association study of rheumatoid arthritis in 2,418 cases and 4,504 controls from North America and identified an association at the…”
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REL , encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
Published in Nature genetics (01-07-2009)“…Peter Gregersen and colleagues report that common variants at the REL locus are associated with risk of rheumatoid arthritis. REL encodes a member of the NF-κB…”
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PTPN22: Setting thresholds for autoimmunity
Published in Seminars in Immunology (01-08-2006)“…The 620W allelic variant of the intracellular tyrosine phosphatase, PTPN22, is associated with a number of different autoimmune disorders, and this provides…”
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The importance of HLA-DPB1 in unrelated donor hematopoietic cell transplantation
Published in Blood (15-12-2007)“…Hematopoietic cell transplantation (HCT) from an HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 allele–matched unrelated donor is a well-recognized life-saving…”
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A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis
Published in PLoS medicine (01-09-2007)“…Rheumatoid arthritis (RA) is a chronic autoimmune disorder affecting approximately 1% of the population. The disease results from the interplay between an…”
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A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase ( PTPN22) Is Associated with Rheumatoid Arthritis
Published in American journal of human genetics (01-08-2004)“…Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting ∼1% of the adult population worldwide, with an estimated heritability of…”
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Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis
Published in Human molecular genetics (15-09-2006)“…Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended…”
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Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 620W Allele Associates with Multiple Autoimmune Phenotypes
Published in American journal of human genetics (01-04-2005)“…Autoimmune disorders constitute a diverse group of phenotypes with overlapping features and a tendency toward familial aggregation. It is likely that common…”
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Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis
Published in Journal of investigative dermatology (01-12-2010)“…Testing of ∼25,000 putative functional single-nucleotide polymorphisms (SNPs) across the human genome in a genetic association study has identified three…”
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Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE
Published in American journal of human genetics (01-09-2004)“…We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the…”
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Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22
Published in Journal of investigative dermatology (01-03-2009)“…Predisposition to psoriasis is known to be affected by genetic variation in HLA-C, IL12B, and IL23R, and although other psoriasis-associated variants have been…”
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PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis
Published in American journal of human genetics (01-10-2005)“…The minor allele of the R620W missense single-nucleotide polymorphism (SNP) ( rs2476601) in the hematopoietic-specific protein tyrosine phosphatase gene,…”
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A combined DPA1∼DPB1 amino acid epitope is the primary unit of selection on the HLA-DP heterodimer
Published in Immunogenetics (New York) (01-08-2012)“…Here, we present results for DPA1 and DPB1 four-digit allele-level typing in a large ( n = 5,944) sample of unrelated European American stem cell donors…”
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Correlation analyses of clinical and molecular findings identify candidate biological pathways in systemic juvenile idiopathic arthritis
Published in BMC medicine (23-10-2012)“…Clinicians have long appreciated the distinct phenotype of systemic juvenile idiopathic arthritis (SJIA) compared to polyarticular juvenile idiopathic…”
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Alternative activation in systemic juvenile idiopathic arthritis monocytes
Published in Clinical immunology (Orlando, Fla.) (01-03-2012)“…Abstract Systemic juvenile idiopathic arthritis (SJIA) is a chronic autoinflammatory condition. The association with macrophage activation syndrome, and the…”
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A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2
Published in PLoS genetics (01-06-2008)“…Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease affecting both joints and extra-articular tissues. Although some genetic risk factors for…”
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