Item Type | Name |
Concept
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Chromosomes, Human, Pair 1
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Concept
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Chromosomes, Human, Pair 10
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Concept
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Chromosomes, Human, Pair 11
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Concept
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Chromosomes, Human, Pair 12
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Concept
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Chromosomes, Human, Pair 13
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, Pair 2
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Concept
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Chromosomes, Human, Pair 20
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Chromosomes, Human, Pair 6
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Concept
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Chromosomes, Human, Pair 8
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Concept
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Herpesvirus 4, Human
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Concept
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Humans
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Concept
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Genome, Human
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Concept
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Chromosomes, Human, X
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Academic Article
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PDK1 acquires PDK2 activity in the presence of a synthetic peptide derived from the carboxyl terminus of PRK2.
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Academic Article
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Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2.
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Academic Article
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Recent advances in the genetics of systemic lupus erythematosus.
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Academic Article
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Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus.
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Academic Article
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Expression levels for many genes in human peripheral blood cells are highly sensitive to ex vivo incubation.
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Academic Article
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Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
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Academic Article
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Molecular imaging of human thrombus with computed tomography.
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Academic Article
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Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
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Academic Article
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High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.
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Academic Article
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Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population.
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Academic Article
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Genetic associations of LYN with systemic lupus erythematosus.
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Academic Article
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Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing.
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Academic Article
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Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
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Academic Article
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Peripheral blood gene expression profiling in Sjögren's syndrome.
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Academic Article
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Variation in the upstream region of P-Selectin (SELP) is a risk factor for SLE.
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Academic Article
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High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
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Academic Article
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Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.
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Academic Article
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Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.
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Academic Article
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Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry.
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Academic Article
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An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression.
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Academic Article
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Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.
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Academic Article
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Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression.
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Academic Article
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GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
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Academic Article
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Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
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Academic Article
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Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.
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Academic Article
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Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.
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Academic Article
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Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus.
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Academic Article
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X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.
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Academic Article
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Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
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Academic Article
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A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.
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Academic Article
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ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
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Academic Article
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From association to mechanism in complex disease genetics: the role of the 3D genome.
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Academic Article
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Association of Epstein-Barr virus serological reactivation with transitioning to systemic lupus erythematosus in at-risk individuals.
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Academic Article
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3-Phosphoinositide-dependent protein kinase-1 (PDK1): structural and functional homology with the Drosophila DSTPK61 kinase.
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Academic Article
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Identification of a gene expression signature associated with recurrent disease in squamous cell carcinoma of the head and neck.
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Academic Article
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Gene expression profiling in human autoimmunity.
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Academic Article
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Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12.
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Academic Article
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Endogenous heparan sulfate and heparin modulate bone morphogenetic protein-4 signaling and activity.
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Academic Article
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Identification of new SLE-associated genes with a two-step Bayesian study design.
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Academic Article
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Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
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Academic Article
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Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups.
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Academic Article
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The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.
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Academic Article
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Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.
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Academic Article
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Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
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Academic Article
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The genomics of autoimmune disease in the era of genome-wide association studies and beyond.
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Academic Article
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Contributions of mass spectrometry-based proteomics to defining cellular mechanisms and diagnostic markers for systemic lupus erythematosus.
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Academic Article
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Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus.
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Academic Article
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RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
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Academic Article
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Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations.
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Academic Article
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Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups.
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Academic Article
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Protein kinase cd deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
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Academic Article
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Encore: Genetic Association Interaction Network centrality pipeline and application to SLE exome data.
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Academic Article
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Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.
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Academic Article
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
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Academic Article
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MHC associations with clinical and autoantibody manifestations in European SLE.
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Academic Article
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Subsistence strategies in traditional societies distinguish gut microbiomes.
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Academic Article
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A20-Binding Inhibitor of NF-?B Activation 1 is a Physiologic Inhibitor of NF-?B: A Molecular Switch for Inflammation and Autoimmunity.
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Academic Article
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TALEN-mediated enhancer knockout influences TNFAIP3 gene expression and mimics a molecular phenotype associated with systemic lupus erythematosus.
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Academic Article
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Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.
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Academic Article
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Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus.
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Academic Article
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Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis.
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Academic Article
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Polygenic risk assessment reveals pleiotropy between sarcoidosis and inflammatory disorders in the context of genetic ancestry.
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Academic Article
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Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.
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Academic Article
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Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block.
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Academic Article
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Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis.
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Academic Article
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A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.
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Academic Article
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Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families.
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Academic Article
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Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus.
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Academic Article
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Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus.
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Academic Article
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Improved molecular imaging contrast agent for detection of human thrombus.
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Academic Article
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Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma.
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Academic Article
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Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus.
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Academic Article
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A novel polymorphism of the human CD40 receptor with enhanced function.
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Academic Article
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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).
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Academic Article
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Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
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Academic Article
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A polymorphism within IL21R confers risk for systemic lupus erythematosus.
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Academic Article
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European population substructure is associated with mucocutaneous manifestations and autoantibody production in systemic lupus erythematosus.
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Academic Article
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Analysis of maternal-offspring HLA compatibility, parent-of-origin effects, and noninherited maternal antigen effects for HLA-DRB1 in systemic lupus erythematosus.
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Academic Article
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Exon 6 variants carried on systemic lupus erythematosus (SLE) risk haplotypes modulate IRF5 function.
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Academic Article
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The role of genetic variation near interferon-kappa in systemic lupus erythematosus.
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Academic Article
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Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
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Academic Article
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Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.
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Academic Article
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IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus.
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Academic Article
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Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.
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Academic Article
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Sex chromosome aneuploidies among men with systemic lupus erythematosus.
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Academic Article
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Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.
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Academic Article
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Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
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Academic Article
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A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus.
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Academic Article
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Effects of IRF5 lupus risk haplotype on pathways predicted to influence B cell functions.
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Academic Article
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Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.
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Academic Article
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CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.
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Academic Article
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Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.
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Academic Article
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Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.
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Academic Article
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Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
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Academic Article
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Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseases.
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Academic Article
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The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.
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Academic Article
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Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study.
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Academic Article
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Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.
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Academic Article
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Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
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Academic Article
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Transancestral mapping and genetic load in systemic lupus erythematosus.
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Academic Article
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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
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Academic Article
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Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks.
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Academic Article
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Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.
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Academic Article
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Latent autoimmunity across disease-specific boundaries in at-risk first-degree relatives of SLE and RA patients.
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Academic Article
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Role of Systemic Lupus Erythematosus Risk Variants With Opposing Functional Effects as a Driver of Hypomorphic Expression of TNIP1 and Other Genes Within a Three-Dimensional Chromatin Network.
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Academic Article
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A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families.
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Academic Article
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The genetics of human systemic lupus erythematosus.
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Academic Article
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Keys to unlocking the mysteries of rheumatic autoimmune disease.
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Academic Article
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Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families.
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Academic Article
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Quantitative "magnetic resonance immunohistochemistry" with ligand-targeted (19)F nanoparticles.
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Academic Article
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Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus.
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Academic Article
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Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus.
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Academic Article
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Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE.
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Academic Article
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Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
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Academic Article
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Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
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Academic Article
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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus.
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Academic Article
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Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
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Academic Article
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Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
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Academic Article
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Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21.
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Academic Article
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Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus.
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Academic Article
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Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.
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Academic Article
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A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.
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Academic Article
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Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis.
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Academic Article
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Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.
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Academic Article
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Evaluation of TRAF6 in a large multiancestral lupus cohort.
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Academic Article
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Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.
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Academic Article
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MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus.
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Academic Article
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PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes.
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Academic Article
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ABIN1 dysfunction as a genetic basis for lupus nephritis.
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Academic Article
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Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.
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Academic Article
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The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
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Academic Article
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Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.
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Academic Article
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Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.
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Academic Article
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Gut Microbiome Diversity among Cheyenne and Arapaho Individuals from Western Oklahoma.
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Academic Article
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Human effector B lymphocytes express ARID3a and secrete interferon alpha.
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Academic Article
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
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Academic Article
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Identification and replication of RNA-Seq gene network modules associated with depression severity.
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Academic Article
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Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31.
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Academic Article
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Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus.
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Academic Article
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
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Grant
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Candidate Causal Variants in Systemic Lupus Erythematosus
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Grant
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Epigenome-Guided Causal Variant Discovery and Mechanisms
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Grant
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TNFAIP3 (A20) and Susceptibility to Systemic Lupus Erythematosus
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Grant
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Functional Mechanisms of Causal Variants in Systemic Lupus Erythematosus
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Grant
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Comprehensive Candidate Pathway Analysis in SLE
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Grant
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Genetic and functional studies of the CD40 P227A polymorphism
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Grant
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ISOLATION OF A HUMAN SLE SUSCEPTIBILITY GENE ON CHROMOSO
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Academic Article
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CD4+?T cells from children with active juvenile idiopathic arthritis show altered chromatin features associated with transcriptional abnormalities.
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Academic Article
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Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits.
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Grant
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Disease and Race Specific Single-cell Epigenetic Mechanisms in Human SLE
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Academic Article
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Variants on the UBE2L3/YDJC Autoimmune Disease Risk Haplotype Increase UBE2L3 Expression by Modulating CCCTC-Binding Factor and YY1 Binding.
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Academic Article
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Deficiencies in the DNA Binding Protein ARID3a Alter Chromatin Structures Important for Early Human Erythropoiesis.
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Academic Article
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Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
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Academic Article
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A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.
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Academic Article
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Relationship Between a Vitamin D Genetic Risk Score and Autoantibodies Among First-Degree Relatives of Probands With Rheumatoid Arthritis and Systemic Lupus Erythematosus.
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