Open Access. Powered by Scholars. Published by Universities.®

Medical Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Articles 1 - 15 of 15

Full-Text Articles in Medical Sciences

Association Analysis Of Copy Numbers Of Fc-Gamma Receptor Genes For Rheumatoid Arthritis And Other Immune-Mediated Phenotypes, L. Franke, H. El Bannoudi, D. T. Jansen, K. Kok, G. Trynka, D. Diogo, M. Swertz, K. Fransen, P. K. Gregersen, A. Zhernakova, +16 Additional Authors Jan 2016

Association Analysis Of Copy Numbers Of Fc-Gamma Receptor Genes For Rheumatoid Arthritis And Other Immune-Mediated Phenotypes, L. Franke, H. El Bannoudi, D. T. Jansen, K. Kok, G. Trynka, D. Diogo, M. Swertz, K. Fransen, P. K. Gregersen, A. Zhernakova, +16 Additional Authors

Journal Articles

Segmental duplications (SDs) comprise about 5% of the human genome and are enriched for immune genes. SD loci often show copy numbers variations (CNV), which are difficult to tag with genotyping methods. CNV in the Fcgamma receptor region (FCGR) has been suggested to be associated with rheumatic diseases. The objective of this study was to delineate association of FCGR-CNV with rheumatoid arthritis (RA), coeliac disease and Inflammatory bowel disease incidence. We developed a method to accurately quantify CNV in SD loci based on the intensity values from the Immunochip platform and applied it to the FCGR locus. We determined the …


Analysis Of Igm Antibody Production And Repertoire In A Mouse Model Of Sjogren's Syndrome, J. M. Kramer, N. E. Holodick, T. C. Vizconde, I. Raman, M. Yan, Q. Z. Li, D. P. Gaile, T. L. Rothstein Jan 2016

Analysis Of Igm Antibody Production And Repertoire In A Mouse Model Of Sjogren's Syndrome, J. M. Kramer, N. E. Holodick, T. C. Vizconde, I. Raman, M. Yan, Q. Z. Li, D. P. Gaile, T. L. Rothstein

Journal Articles

This study tested the hypothesis that B cells from salivary tissue are distinct in terms of proliferative capacity, immunoglobulin M secretion, repertoire, and autoantibody enrichment in Sjogren's syndrome. We sorted purified B cells from the spleen, cervical lymph nodes, and submandibular glands of a primary Sjogren's syndrome mouse model (Id3-/-). Enzyme-linked immunospot and proliferation assays were performed with stimulated B cells. We single-cell sorted B cells from the spleen, cervical lymph nodes, and submandibular gland tissue from Sjogren's syndrome mice and sequenced immunoglobulin M heavy-chain variable regions. Finally, autoantigen arrays were performed using immunoglobulin M derived from sera, cervical lymph …


Btk Inhibition Results In Impaired Cxcr4 Chemokine Receptor Surface Expression, Signaling And Function In Chronic Lymphocytic Leukemia, S. S. Chen, B. Y. Chang, S. Chang, T. Tong, S. Ham, B. Sherry, J. A. Burger, K. R. Rai, N. Chiorazzi Jan 2016

Btk Inhibition Results In Impaired Cxcr4 Chemokine Receptor Surface Expression, Signaling And Function In Chronic Lymphocytic Leukemia, S. S. Chen, B. Y. Chang, S. Chang, T. Tong, S. Ham, B. Sherry, J. A. Burger, K. R. Rai, N. Chiorazzi

Journal Articles

Bruton's tyrosine kinase (BTK) is involved in the regulation of B-cell growth, migration and adhesion. The importance of BTK in cell trafficking is emphasized by the clonal contraction proceeded by lymphocytosis typical for the enzyme inhibitor, ibrutinib, in B-cell malignancies, including chronic lymphocytic leukemia (CLL). Here, we investigated BTK regulation of leukemic B-cell trafficking in a mouse model of aggressive TCL1 CLL-like disease. Inhibiting BTK by ibrutinib reduced surface membrane (sm) levels of CXCR4 but not CXCR5, CD49d and other adhesion/homing receptors. Decreased smCXCR4 levels resulted from blocking receptor signal transduction, which in turn aborted cycling from and to the …


Elevated 1-Hour Plasma Glucose Levels Are Associated With Dysglycemia, Impaired Beta-Cell Function, And Insulin Sensitivity: A Pilot Study From A Real World Health Care Setting, R. Jagannathan, M. A. Sevick, H. Li, D. Fink, R. Dankner, A. Chetrit, J. Roth, M. Bergman Jan 2016

Elevated 1-Hour Plasma Glucose Levels Are Associated With Dysglycemia, Impaired Beta-Cell Function, And Insulin Sensitivity: A Pilot Study From A Real World Health Care Setting, R. Jagannathan, M. A. Sevick, H. Li, D. Fink, R. Dankner, A. Chetrit, J. Roth, M. Bergman

Journal Articles

No abstract provided.


Cytoplasmic Myosin-Exposed Apoptotic Cells Appear With Caspase-3 Activation And Enhance Cll Cell Viability, X. Cui, L. Zhang, A. R. Magli, R. Catera, X. J. Yan, D. O. Griffin, T. L. Rothstein, J. Barrientos, J. E. Kolitz, S. L. Allen, K. R. Rai, N. Chiorazzi, C. C. Chu Jan 2016

Cytoplasmic Myosin-Exposed Apoptotic Cells Appear With Caspase-3 Activation And Enhance Cll Cell Viability, X. Cui, L. Zhang, A. R. Magli, R. Catera, X. J. Yan, D. O. Griffin, T. L. Rothstein, J. Barrientos, J. E. Kolitz, S. L. Allen, K. R. Rai, N. Chiorazzi, C. C. Chu

Journal Articles

The degree of chronic lymphocytic leukemia (CLL) B-cell antigen receptor (BCR) binding to myosin-exposed apoptotic cells (MEACs) correlates with worse patient outcomes, suggesting a link to disease activity. Therefore, we studied MEAC formation and the effects of MEAC binding on CLL cells. In cell line studies, both intrinsic (spontaneous or camptothecin-induced) and extrinsic (FasL- or anti-Fas-induced) apoptosis created a high percent of MEACs over time in a process associated with caspase-3 activation, leading to cytoplasmic myosin cleavage and trafficking to cell membranes. The involvement of common apoptosis pathways suggests that most cells can produce MEACs and indeed CLL cells themselves …


Increased Pretreatment Serum Ifn-Beta/Alpha Ratio Predicts Non-Response To Tumour Necrosis Factor Alpha Inhibition In Rheumatoid Arthritis, T. Wampler Muskardin, P. Vashisht, J. M. Dorschner, M. A. Jensen, B. S. Chrabot, M. Kern, J. R. Curtis, R. Furie, P. K. Gregersen, T. B. Niewold, +14 Additional Authors Jan 2016

Increased Pretreatment Serum Ifn-Beta/Alpha Ratio Predicts Non-Response To Tumour Necrosis Factor Alpha Inhibition In Rheumatoid Arthritis, T. Wampler Muskardin, P. Vashisht, J. M. Dorschner, M. A. Jensen, B. S. Chrabot, M. Kern, J. R. Curtis, R. Furie, P. K. Gregersen, T. B. Niewold, +14 Additional Authors

Journal Articles

OBJECTIVE: Studies suggest that circulating type I interferon (IFN) may predict response to biological agents in rheumatoid arthritis (RA). Prediction of response prior to initiating therapy would represent a major advancement. METHODS: We studied sera from a test set of 32 patients with RA from the Auto-immune Biomarkers Collaborative Network Consortium and a validation set of 92 patients with RA from the Treatment Efficacy and Toxicity in Rheumatoid Arthritis Database and Repository registry. The test set included those with good response or no response to tumour necrosis factor (TNF) inhibitors at 14 weeks by European League Against Rheumatism criteria. The …


The Frequency And Outcome Of Lupus Nephritis: Results From An International Inception Cohort Study, J. G. Hanly, A. G. O'Keeffe, L. Su, M. B. Urowitz, J. Romero-Diaz, C. Gordon, S. C. Bae, E. M. Ginzler, C. Aranow, V. Farewell, +35 Additional Authors Jan 2016

The Frequency And Outcome Of Lupus Nephritis: Results From An International Inception Cohort Study, J. G. Hanly, A. G. O'Keeffe, L. Su, M. B. Urowitz, J. Romero-Diaz, C. Gordon, S. C. Bae, E. M. Ginzler, C. Aranow, V. Farewell, +35 Additional Authors

Journal Articles

OBJECTIVE: To determine nephritis outcomes in a prospective multi-ethnic/racial SLE inception cohort. METHODS: Patients in the Systemic Lupus International Collaborating Clinics inception cohort (


Loci Associated With N-Glycosylation Of Human Igg Are Not Associated With Rheumatoid Arthritis: A Mendelian Randomisation Study, A. Yarwood, S. Viatte, Y. Okada, R. Plenge, K. Yamamoto, A. Barton, D. Symmons, S. Raychaudhuri, P. Gregersen, S. Eyre, +2 Additional Authors Jan 2016

Loci Associated With N-Glycosylation Of Human Igg Are Not Associated With Rheumatoid Arthritis: A Mendelian Randomisation Study, A. Yarwood, S. Viatte, Y. Okada, R. Plenge, K. Yamamoto, A. Barton, D. Symmons, S. Raychaudhuri, P. Gregersen, S. Eyre, +2 Additional Authors

Journal Articles

OBJECTIVES: A recent study identified 16 genetic variants associated with N-glycosylation of human IgG. Several of the genomic regions where these single nucleotide polymorphisms (SNPs) reside have also been associated with autoimmune disease (AID) susceptibility, suggesting there may be pleiotropy (genetic sharing) between loci controlling both N-glycosylation and AIDs. We investigated this by testing variants associated with levels of IgG N-glycosylation for association with rheumatoid arthritis (RA) susceptibility using a Mendelian randomisation study, and testing a subset of these variants in a less well-powered study of treatment response and severity. METHODS: SNPs showing association with IgG N-glycosylation were analysed for …


Whole-Exome Sequencing In Relapsing Chronic Lymphocytic Leukemia: Clinical Impact Of Recurrent Rps15 Mutations, V. Ljungstrom, D. Cortese, E. Young, T. Pandzic, L. Mansouri, K. Plevova, S. Ntoufa, P. Baliakas, N. Chiorazzi, R. Rosenquist, +24 Additional Authors Jan 2016

Whole-Exome Sequencing In Relapsing Chronic Lymphocytic Leukemia: Clinical Impact Of Recurrent Rps15 Mutations, V. Ljungstrom, D. Cortese, E. Young, T. Pandzic, L. Mansouri, K. Plevova, S. Ntoufa, P. Baliakas, N. Chiorazzi, R. Rosenquist, +24 Additional Authors

Journal Articles

Fludarabine, cyclophosphamide and rituximab (FCR) is first-line treatment for medically fit chronic lymphocytic leukemia (CLL) patients, however despite good response rates many patients eventually relapse. Whilst recent high-throughput studies have identified novel recurrent genetic lesions in adverse-prognostic CLL, the mechanisms leading to relapse after FCR therapy are not completely understood. To gain insight into this issue, we performed whole-exome sequencing of sequential samples from 41 CLL patients who were uniformly treated with FCR but relapsed after a median of 2 years. In addition to mutations with known adverse-prognostic impact (TP53, NOTCH1, ATM, SF3B1, NFKBIE, BIRC3) a large proportion of cases …


What Is Damaging The Kidney In Lupus Nephritis?, A. Davidson Jan 2016

What Is Damaging The Kidney In Lupus Nephritis?, A. Davidson

Journal Articles

Despite marked improvements in the survival of patients with severe lupus nephritis over the past 50 years, the rate of complete clinical remission after immune suppression therapy is


Identification Of Iguratimod As An Inhibitor Of Macrophage Migration Inhibitory Factor (Mif) With Steroid-Sparing Potential, J. Bloom, C. Metz, S. Nalawade, J. Casabar, K. Fan Cheng, M. He, B. Sherry, T. Coleman, T. Forsthuber, Y. Al-Abed Jan 2016

Identification Of Iguratimod As An Inhibitor Of Macrophage Migration Inhibitory Factor (Mif) With Steroid-Sparing Potential, J. Bloom, C. Metz, S. Nalawade, J. Casabar, K. Fan Cheng, M. He, B. Sherry, T. Coleman, T. Forsthuber, Y. Al-Abed

Journal Articles

No abstract provided.


Dissociation Of Metabolic And Hemodynamic Levodopa Responses In The 6-Hydroxydopamine Rat Model, R. P. Lerner, Z. Bimpisidis, S. Agorastos, S. Scherrer, S. L. Dewey, M. A. Cenci, D. Eidelberg Jan 2016

Dissociation Of Metabolic And Hemodynamic Levodopa Responses In The 6-Hydroxydopamine Rat Model, R. P. Lerner, Z. Bimpisidis, S. Agorastos, S. Scherrer, S. L. Dewey, M. A. Cenci, D. Eidelberg

Journal Articles

No abstract provided.


Cytokine-Specific Neurograms In The Sensory Vagus Nerve., B. E. Steinberg, H. A. Silverman, M. K. Gunasekaran, T. Tsaava, E. Battinelli, A. Stiegler, C. E. Bouton, S. S. Chavan, J. J. Tracey, P. T. Huerta, +1 Additional Author Jan 2016

Cytokine-Specific Neurograms In The Sensory Vagus Nerve., B. E. Steinberg, H. A. Silverman, M. K. Gunasekaran, T. Tsaava, E. Battinelli, A. Stiegler, C. E. Bouton, S. S. Chavan, J. J. Tracey, P. T. Huerta, +1 Additional Author

Journal Articles

The axons of the sensory, or afferent, vagus nerve transmit action potentials to the central nervous system in response to changes in the body's metabolic and physiological status. Recent advances in identifying neural circuits that regulate immune responses to infection, inflammation and injury have revealed that vagus nerve signals regulate the release of cytokines and other factors produced by macrophages. Here we record compound action potentials in the cervical vagus nerve of adult mice and reveal the specific activity that occurs following administration of the proinflammatory cytokines tumor necrosis factor (TNF) and interleukin 1β (IL-1β). Importantly, the afferent vagus neurograms …


Lower Omega-3 Fatty Acids Are Associated With The Presence Of Anti-Cyclic Citrullinated Peptide Autoantibodies In A Population At Risk For Future Rheumatoid Arthritis: A Nested Case-Control Study, R. W. Gan, K. A. Young, G. O. Zerbe, M. K. Demoruelle, M. H. Weisman, J. H. Buckner, P. K. Gregersen, T. R. Mikuls, J. R. O'Dell, J. M. Norris, +4 Additional Authors Jan 2016

Lower Omega-3 Fatty Acids Are Associated With The Presence Of Anti-Cyclic Citrullinated Peptide Autoantibodies In A Population At Risk For Future Rheumatoid Arthritis: A Nested Case-Control Study, R. W. Gan, K. A. Young, G. O. Zerbe, M. K. Demoruelle, M. H. Weisman, J. H. Buckner, P. K. Gregersen, T. R. Mikuls, J. R. O'Dell, J. M. Norris, +4 Additional Authors

Journal Articles

OBJECTIVE: The aim of this study was to investigate omega-3 fatty acid (FA) supplement use and omega-3 FAs in erythrocyte membranes [omega-3 FA % in erythrocyte membranes (RBC)] and their association with anti-CCP autoantibodies in a population without RA, but who are at genetic risk for RA. METHODS: The multicentre Studies of the Etiology of RA (SERA) cohort includes RA-free subjects who are first-degree relatives of RA probands or are enriched with the HLA-DR4 allele. In a nested case-control study, 30 SERA cases were identified who were anti-CCP2 antibody positive. We further identified 47 autoantibody negative controls, frequency matched to …


Dense Genotyping Of Immune-Related Loci In Idiopathic Inflammatory Myopathies Confirms Hla Alleles As The Strongest Genetic Risk Factor And Suggests Different Genetic Background For Major Clinical Subgroups, S. Rothwell, R. G. Cooper, I. E. Lundberg, F. W. Miller, P. K. Gregersen, J. Bowes, J. Vencovsky, K. Danko, V. Limaye, J. A. Lamb, +26 Additional Authors Jan 2016

Dense Genotyping Of Immune-Related Loci In Idiopathic Inflammatory Myopathies Confirms Hla Alleles As The Strongest Genetic Risk Factor And Suggests Different Genetic Background For Major Clinical Subgroups, S. Rothwell, R. G. Cooper, I. E. Lundberg, F. W. Miller, P. K. Gregersen, J. Bowes, J. Vencovsky, K. Danko, V. Limaye, J. A. Lamb, +26 Additional Authors

Journal Articles

OBJECTIVES: The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. We genotyped 2566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised of patients with dermatomyositis (DM, n=879), juvenile DM (JDM, n=481), polymyositis (PM, n=931) and inclusion body myositis (n=252) collected from 14 countries through the Myositis Genetics Consortium. RESULTS: The human leucocyte antigen (HLA) and PTPN22 regions reached genome-wide significance (p