about
Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseasesA20-Binding Inhibitor of NF-κB Activation 1 is a Physiologic Inhibitor of NF-κB: A Molecular Switch for Inflammation and AutoimmunityInterferon-inducible gene expression signature in peripheral blood cells of patients with severe lupusRBPJ mutations identified in two families affected by Adams-Oliver syndromeAn enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expressionForward genetic screening identifies a small molecule that blocks Toxoplasma gondii growth by inhibiting both host- and parasite-encoded kinasesA genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair familiesGWAS identifies novel SLE susceptibility genes and explains the association of the HLA regionDense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.Expression and methylation data from SLE patient and healthy control blood samples subdivided with respect to ARID3a levels.Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12.Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study.Subsistence strategies in traditional societies distinguish gut microbiomesThe use of microarrays to study autoimmunity.The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.Contributions of mass spectrometry-based proteomics to defining cellular mechanisms and diagnostic markers for systemic lupus erythematosus.Identification of new SLE-associated genes with a two-step Bayesian study design.Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiencyGene expression profiling in human autoimmunity.Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European AncestryRegulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.TALEN-mediated enhancer knockout influences TNFAIP3 gene expression and mimics a molecular phenotype associated with systemic lupus erythematosus.Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus.Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.Infinium assay for large-scale SNP genotyping applications.Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.PPARγ targeted oral cancer treatment and additional utility of genomics analytic techniques.A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.Exon 6 variants carried on systemic lupus erythematosus (SLE) risk haplotypes modulate IRF5 function.Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Periostin promotes invasion and anchorage-independent growth in the metastatic process of head and neck cancer.Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma.Polygenic risk assessment reveals pleiotropy between sarcoidosis and inflammatory disorders in the context of genetic ancestryCSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.Fatal acute lymphoblastic leukemia in mice transgenic for B cell-restricted bcl-xL and c-myc.Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block.ABIN1 Determines Severity of Glomerulonephritis via Activation of Intrinsic Glomerular Inflammation.Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families.Functional activation of PPARγ in human upper aerodigestive cancer cell lines.
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Patrick M. Gaffney
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