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One or more keywords matched the following items that are connected to Gaffney, Patrick
Item TypeName
Concept Genetic Predisposition to Disease
Academic Article Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus.
Academic Article Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
Academic Article High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.
Academic Article Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population.
Academic Article Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing.
Academic Article Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
Academic Article Variation in the upstream region of P-Selectin (SELP) is a risk factor for SLE.
Academic Article High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Academic Article Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.
Academic Article Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
Academic Article Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry.
Academic Article An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression.
Academic Article Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression.
Academic Article GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
Academic Article Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
Academic Article Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.
Academic Article Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.
Academic Article Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus.
Academic Article Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
Academic Article A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.
Academic Article From association to mechanism in complex disease genetics: the role of the 3D genome.
Academic Article Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12.
Academic Article Identification of new SLE-associated genes with a two-step Bayesian study design.
Academic Article Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
Academic Article Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups.
Academic Article The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.
Academic Article Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.
Academic Article Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
Academic Article Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus.
Academic Article RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Academic Article Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations.
Academic Article Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups.
Academic Article Encore: Genetic Association Interaction Network centrality pipeline and application to SLE exome data.
Academic Article Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.
Academic Article Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus.
Academic Article Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis.
Academic Article Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.
Academic Article Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families.
Academic Article Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus.
Academic Article Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus.
Academic Article Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
Academic Article Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Academic Article A polymorphism within IL21R confers risk for systemic lupus erythematosus.
Academic Article European population substructure is associated with mucocutaneous manifestations and autoantibody production in systemic lupus erythematosus.
Academic Article Analysis of maternal-offspring HLA compatibility, parent-of-origin effects, and noninherited maternal antigen effects for HLA-DRB1 in systemic lupus erythematosus.
Academic Article Exon 6 variants carried on systemic lupus erythematosus (SLE) risk haplotypes modulate IRF5 function.
Academic Article The role of genetic variation near interferon-kappa in systemic lupus erythematosus.
Academic Article Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.
Academic Article IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus.
Academic Article Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.
Academic Article Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.
Academic Article A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus.
Academic Article Effects of IRF5 lupus risk haplotype on pathways predicted to influence B cell functions.
Academic Article Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.
Academic Article Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.
Academic Article Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.
Academic Article Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
Academic Article Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study.
Academic Article Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.
Academic Article Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
Academic Article Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks.
Academic Article Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.
Academic Article Latent autoimmunity across disease-specific boundaries in at-risk first-degree relatives of SLE and RA patients.
Academic Article A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families.
Academic Article PARP alleles and SLE: failure to confirm association with disease susceptibility.
Academic Article Keys to unlocking the mysteries of rheumatic autoimmune disease.
Academic Article Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families.
Academic Article Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus.
Academic Article Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE.
Academic Article Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
Academic Article Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus.
Academic Article Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
Academic Article Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
Academic Article Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Academic Article Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21.
Academic Article Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.
Academic Article A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.
Academic Article Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis.
Academic Article Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.
Academic Article Evaluation of TRAF6 in a large multiancestral lupus cohort.
Academic Article Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.
Academic Article MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus.
Academic Article PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes.
Academic Article Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.
Academic Article Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.
Academic Article Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.
Academic Article Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31.
Academic Article Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus.
Grant Comprehensive Candidate Pathway Analysis in SLE
Academic Article Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits.
Academic Article Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
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  • Genetic Predisposition to Disease