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Gaffney, Patrick

One or more keywords matched the following items that are connected to Gaffney, Patrick

Item Type	Name
Concept	Bone Diseases, Developmental
Concept	Carotid Artery Diseases
Concept	Crohn Disease
Concept	Rheumatic Diseases
Concept	Virus Diseases
Concept	Disease Progression
Concept	Motor Neuron Disease
Concept	Genetic Diseases, Inborn
Concept	Genetic Predisposition to Disease
Concept	Skin Diseases
Concept	Autoimmune Diseases
Concept	Cerebellar Diseases
Concept	Disease Models, Animal
Academic Article	Recent advances in the genetics of systemic lupus erythematosus.
Academic Article	Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
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	X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.
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	ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Academic Article	From association to mechanism in complex disease genetics: the role of the 3D genome.
Academic Article	Identification of a gene expression signature associated with recurrent disease in squamous cell carcinoma of the head and neck.
Academic Article	The use of microarrays to study autoimmunity.
Academic Article	Gene expression profiling in human autoimmunity.
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	The genomics of autoimmune disease in the era of genome-wide association studies and beyond.
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	A20-Binding Inhibitor of NF-?B Activation 1 is a Physiologic Inhibitor of NF-?B: A Molecular Switch for Inflammation and Autoimmunity.
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	Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseases.
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	Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
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	Quantitative "magnetic resonance immunohistochemistry" with ligand-targeted (19)F nanoparticles.
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	The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
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.
Academic Article	Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Grant	Epigenome-Guided Causal Variant Discovery and Mechanisms
Grant	TNFAIP3 (A20) and Susceptibility to Systemic Lupus Erythematosus
Grant	Comprehensive Candidate Pathway Analysis in SLE
Grant	Molecular Mechanisms and Genetics of Autoimmunity
Grant	Comprehensive Candidate Pathway Analysis in SLE
Grant	Genetic and functional studies of the CD40 P227A polymorphism
Grant	Molecular Mechanisms and Genetics of Autoimmunity COBRE
Grant	ISOLATION OF A HUMAN SLE SUSCEPTIBILITY GENE ON CHROMOSO
Academic Article	Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits.
Grant	Disease and Race Specific Single-cell Epigenetic Mechanisms in Human SLE
Academic Article	Variants on the UBE2L3/YDJC Autoimmune Disease Risk Haplotype Increase UBE2L3 Expression by Modulating CCCTC-Binding Factor and YY1 Binding.
Academic Article	Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
Academic Article	A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus-like Disease in Mice.

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