Abstract Number: 137 • 2017 Pediatric Rheumatology Symposium
Chromatin Landscapes and Genetic Risk For Juvenile Idiopathic Arthritis
Background/Purpose: The transcriptomes of peripheral blood cells in children with juvenile idiopathic arthritis (JIA) show distinct transcriptional aberrations that suggest impairment of transcriptional regulation. To…Abstract Number: 8 • 2017 Pediatric Rheumatology Symposium
Examination of Reported Risk Loci from Candidate Gene Studies of Systemic Juvenile Idiopathic Arthritis Identifies Link between IL1RN Variation and both Disease Susceptibility and Response to Interleukin-1 Directed Therapy
Background/Purpose: Systemic JIA (sJIA) is a childhood inflammatory disease whose pathophysiology is poorly understood. sJIA is phenotypically heterogeneous with variable manifestations and responses to treatment.…Abstract Number: 801 • 2016 ACR/ARHP Annual Meeting
Multi-Tissue Gene Expression Pathway Analysis of Emerging Therapeutics in a TGFβ Dependent Mouse Model of Systemic Sclerosis
Background/Purpose: We have previously investigated the interplay between TGFβ, BMP, VEGF and endothelin in SSc using the TβRIIΔk-fib strain, a transgenic mouse model in…Abstract Number: 1827 • 2016 ACR/ARHP Annual Meeting
Type I IFN Signature Low and High SLE Subjects with Moderate to Severe Disease Activity Have Distinct Gene Expression Signatures of Immunologic Pathways and Cell Types
Background/Purpose: Type I interferon (IFN) has been implicated in SLE pathogenesis, and the majority of subjects with SLE have elevated expression of type I IFN-inducible…Abstract Number: 3230 • 2016 ACR/ARHP Annual Meeting
Genome-Wide Association Study Identifies Novel Sjögren’s Syndrome Risk Loci in the Regions of NAB1, TYK2, and PTTG1-mir146a
Background/Purpose: Sjögren’s syndrome (SS) is a complex autoimmune disease with both environmental and genetic factors contributing to pathophysiology. The goal of this genome-wide association study…Abstract Number: 802 • 2016 ACR/ARHP Annual Meeting
Whole Transcriptome Profiling through RNA Sequencing Reveals Differentially Expressed Sense-Antisense Gene Pairs in Patients with Systemic Sclerosis
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of skin and multiple organs. Morbidity and mortality are high and pathogenesis is poorly…Abstract Number: 1841 • 2016 ACR/ARHP Annual Meeting
Dysregulation of the Splicing Machinery Components in Leukocytes from Patients with Systemic Lupus Erythematosus: Influence on Autoimmune and Atherothrombotic Mechanisms
Background/Purpose: The aim of this study was to evaluate whether alterations in the splicing-machinery could influence the development and activity of the disease and the…Abstract Number: 803 • 2016 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Systemic Sclerosis (SSc) Patients Shows Reproducible Gene Expression Profiles Across Organ Systems
Background/Purpose: While a hallmark of systemic sclerosis (SSc) is skin fibrosis, internal organ involvement is the primary cause of mortality. Pulmonary Arterial Hypertension (PAH), Interstitial…Abstract Number: 1843 • 2016 ACR/ARHP Annual Meeting
Single Cell Expression Quantitative Trait Loci (eQTL) Analysis of Established SLE-Risk Loci in Lupus Patient Monocytes
Background/Purpose: While most of the confirmed SLE-risk loci are in or near genes with immune system function, a major unanswered question is how these loci…Abstract Number: 816 • 2016 ACR/ARHP Annual Meeting
Clinical Response to Treatment with Belimumab and Mycophenolate Mofetil Is Associated with Decrease in B Cell, TGF-β and PDGF Signaling in Systemic Sclerosis
Background/Purpose: While B cell signaling is thought to be important in the pathogenesis of systemic sclerosis (SSc), the experience with B cell targeting therapies in…Abstract Number: 1902 • 2016 ACR/ARHP Annual Meeting
Detecting the Pulmonary Vascular Involvement and the Changes in Gene Activation Profiles at Early Stage of Systemic Sclerosis in Patients with Raynaud Phenomenon
Background/Purpose: Raynaud phenomenon (RP) is known to precede other disease manifestations of systemic sclerosis (SSc), and classically viewed as reversible vasospasm due to functional changes…Abstract Number: 1036 • 2016 ACR/ARHP Annual Meeting
Dominant B-Cell Receptor Clones in Peripheral Blood Predict Onset of Arthritis in Individuals at Risk for Rheumatoid Arthritis
Background/Purpose: The onset of seropositive rheumatoid arthritis (RA) is preceded by the presence of specific autoantibodies in the absence of synovial inflammation. Only a subset…Abstract Number: 2059 • 2016 ACR/ARHP Annual Meeting
Serine/Arginine-Rich Splicing Factor 1 (SRSF1) Is a Novel Factor in T Cell Homeostasis and Its Selective Loss in T Cells Causes Autoimmunity and Lupus-like Nephritis
Background/Purpose: T cells from patients with systemic lupus erythematosus (SLE) express reduced amounts of the critical CD3 zeta signaling chain, and produce low levels of…Abstract Number: 1210 • 2016 ACR/ARHP Annual Meeting
A Genome-Wide Association Study of Psoriatic Arthritis in Italian Population
rexm-rs12191877 (p=4.87 x10-10, OR 1.731, 95%CI =1.46-2.06), exm-rs4947248 (p=1.98 x10-9 , OR 1.56, 95%CI = 1.35-1.80). Moreover, in PsA patients we identified signals of association…Abstract Number: 2064 • 2016 ACR/ARHP Annual Meeting
Blood and Kidney Molecular Profiles Distinguish Subjects with Lupus Nephritis from Other Kidney Disorders
Background/Purpose: Kidney biopsy remains the gold standard for diagnosis and staging of Lupus Nephritis (LN). Although kidney biopsies are commonly performed in the clinical setting,…
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