keyword
MENU ▼
Read by QxMD icon Read
search

ptpn22

keyword
https://www.readbyqxmd.com/read/29762907/genetic-differences-between-type-1-diabetes-with-and-without-other-autoimmune-diseases
#1
Kanako Shimura, Junnosuke Miura, Manabu Kawamoto, Yasushi Kawaguchi, Hisashi Yamanaka, Yasuko Uchigata
BACKGROUND: Clusters of autoimmune diseases (ADs) are present in some people with type 1 diabetes. This clustering suggests the existence of common genetic backgrounds for abnormal autoimmunity in these individuals. However, the genetic differences between type 1 diabetes patients with and without other ADs are not well known. METHODS: To investigate the clinical background and genetic differences between type 1 diabetes patients with and without other ADs, SNPs in the CTLA4, SUMO4, PTPN22, IRF5, STAT4 and BLK genes were analyzed using either a TaqMan assay or direct sequencing...
May 15, 2018: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/29729713/association-between-the-functional-ptpn22-g788a-r263q-polymorphism-and-susceptibility-to-autoimmune-diseases-a-meta-analysis
#2
Sang-Cheol Bae, Young Ho Lee
This study explored whether the functional protein tyrosine phosphatase nonreceptor 22 (PTPN22) G788A (R263Q) polymorphism is associated with susceptibility to autoimmune diseases. A meta-analysis was conducted using 23 comparative studies with a total of 16,719 patients and 17,783 controls. The meta-analysis showed an association between the A allele of the PTPN22 G788A polymorphism and decreased risk of autoimmune diseases in all subjects (p < 0.001). Analysis after stratification by ethnicity indicated that the PTPN22 788A allele was significantly associated with autoimmune diseases in Europeans (p < 0...
April 30, 2018: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29681901/putting-on-the-brakes-regulatory-kinases-and-phosphatases-maintaining-b-cell-anergy
#3
REVIEW
S Elizabeth Franks, John C Cambier
B cell antigen receptor (BCR) signaling is a tightly regulated process governed by both positive and negative mediators/regulators to ensure appropriate responses to exogenous and autologous antigens. Upon naïve B cell recognition of antigen CD79 [the immunoreceptor tyrosine-based activation motif (ITAM)-containing signaling subunit of the BCR] is phosphorylated and recruits Src and Syk family kinases that then phosphorylate proximal intermediaries linked to downstream activating signaling circuitry. This plasma membrane localized signalosome activates PI3K leading to generation of PIP3 critical for membrane localization and activation of plecktrin homology domain-containing effectors...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29666305/a-switch-variant-model-integrates-the-functions-of-an-autoimmune-variant-of-the-phosphatase-ptpn22
#4
REVIEW
Torkel Vang, Jimmi Nielsen, Garth L Burn
The R620W polymorphism in protein tyrosine phosphatase nonreceptor type 22 (PTPN22) predisposes carriers to several autoimmune diseases. Two papers in Science Immunology and Science Signaling on this human disease-associated variant lead us to propose a new "switch-of-function" model.
April 17, 2018: Science Signaling
https://www.readbyqxmd.com/read/29544193/autoimmune-and-immunogenetic-profile-of-patients-with-optic-neuritis-in-a-population-based-cohort
#5
K Soelberg, A C Nilsson, C Nielsen, S Jarius, M Reindl, B Wildemann, S T Lillevang, N Asgari
BACKGROUND: Optic neuritis (ON) is an inflammatory optic neuropathy, where the genetic and autoimmune dependency remains poorly characterized. OBJECTIVE: To investigate autoimmune and immunogenetic aspects of ON. METHOD: In a prospective population-based cohort 51 patients with ON were included. At follow up 20 patients had progressed to multiple sclerosis (MS-ON). All patients were screened for neuronal and systemic autoantibodies. HLA genotypes and allele and genotype frequencies of the PTPN22 C1858T and the PD-1...
April 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29512901/regulation-of-autoimmune-and-anti-tumour-t-cell-responses-by-ptpn22
#6
REVIEW
Rebecca J Brownlie, Rose Zamoyska, Robert J Salmond
A number of polymorphisms in immune-regulatory genes have been identified as risk factors for the development of autoimmune disease. PTPN22 (that encodes a tyrosine phosphatase) has been associated with the development of several autoimmune diseases, including type 1 diabetes, rheumatoid arthritis and systemic lupus erythematosus. PTPN22 regulates the activity and effector functions of multiple important immune cell types, including lymphocytes, granulocytes and myeloid cells. In this review, we describe the role of PTPN22 in regulating T-cell activation and effector responses...
March 7, 2018: Immunology
https://www.readbyqxmd.com/read/29456405/role-of-ptpn2-22-polymorphisms-in-pathophysiology-of-crohn-s-disease
#7
Robert C Sharp, Shazia A Beg, Saleh A Naser
AIM: To establish the relationship of protein tyrosine phosphatase non-receptor type 2 and 22 ( PTPN2/22 ) polymorphisms and mycobacterial infections in Crohn's disease (CD). METHODS: All 133 subjects' blood samples were genotyped for nine single nucleotide polymorphisms (SNPs) in PTPN2/22 using TaqMan™ genotyping, while the effect of the SNPs on PTPN2/22 and IFN- γ gene expression was determined using RT-PCR. Detection of Mycobacterium avium subspecies paratuberculosis (MAP) IS900 gene was done by nPCR after DNA extraction from the isolated leukocytes of each subjects' blood samples...
February 14, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29423382/polymorphisms-in-protein-tyrosine-phosphatase-non-receptor-type-2-and-22-ptpn2-22-are-linked-to-hyper-proliferative-t-cells-and-susceptibility-to-mycobacteria-in-rheumatoid-arthritis
#8
Robert C Sharp, Shazia A Beg, Saleh A Naser
A shared genetic pre-disposition, chronic inflammation, and treatment with similar biologics between Rheumatoid arthritis (RA) and Crohn's disease (CD) have intrigued us to investigate whether the two disorders share trigger association or possible causation. We hypothesized earlier that Single Nucleotide Polymorphisms (SNPs) in the negative regulators Protein Tyrosine Phosphatase Non-receptor type 2 and 22 ( PTPN2/22) lead to a dysregulated immune response, susceptibility to environmental triggers, and continued apoptosis as seen in chronic inflammation in RA and CD...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29409002/ptpn22-and-ctla-4-polymorphisms-are-associated-with-polyglandular-autoimmunity
#9
Juliane Houcken, Christina Degenhart, Klaus Bender, Jochem König, Lara Frommer, George J Kahaly
Context: Single nucleotide polymorphisms (SNPs) of various genes increase susceptibility to monoglandular autoimmunity. Data on autoimmune polyglandular syndromes (APSs) are scarce. Objective: Evaluate potential associations of eight SNPs with APSs. Setting: Academic referral endocrine clinic. Patients: A total of 543 patients with APS and monoglandular autoimmunity and controls. Intervention: The SNP protein tyrosine phosphatase nonreceptor type 22 (PTPN22) rs2476601 (+1858); cytotoxic T-lymphocyte‒associated antigen 4 (CTLA-4) rs3087243 (CT60) and rs231775 (AG49); vitamin D receptor (VDR) rs1544410 (Bsm I), rs7975232 (Apa I), rs731236 (Taq I); tumor necrosis factor α rs1800630 (-863); and interleukin-2 receptor alpha rs10795791 were tested by single-base extension in all subjects...
May 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29388193/eomes-positive-cd4-t-cells-are-increased-in-ptpn22-1858t-risk-allele-carriers
#10
Karine Chemin, Daniel Ramsköld, Lina-Marcela Diaz-Gallo, Jessica Herrath, Miranda Houtman, Karolina Tandre, Lars Rönnblom, Anca Catrina, Vivianne Malmström
The presence of the PTPN22 risk allele (1858T) is associated with several autoimmune diseases including rheumatoid arthritis (RA). Despite a number of studies exploring the function of PTPN22 in T cells, the exact impact of the PTPN22 risk allele on T-cell function in humans is still unclear. In this study, using RNA sequencing, we show that, upon TCR-activation, naïve human CD4+ T cells homozygous for the PTPN22 risk allele overexpress a set of genes including CFLAR and 4-1BB, which are important for cytotoxic T-cell differentiation...
April 2018: European Journal of Immunology
https://www.readbyqxmd.com/read/29348710/the-protein-tyrosine-phosphatase-nonreceptor-22-ptpn22-r620w-functional-polymorphism-in-psoriasis
#11
Ghaleb Bin Huraib, Fahad Al Harthi, Misbahul Arfin, Sadaf Rizvi, Abdulrahaman Al-Asmari
Background: Psoriasis is a complex autoimmune disease caused by the interaction of genetic and environmental factors. PTPN22 gene polymorphism has been reported to affect psoriasis susceptibility; however, no data are available for Middle Eastern populations. Objective: The aim of this study was to investigate the association of PTPN22 (1858C/T) R620W polymorphism with psoriasis in a Saudi cohort. Methods: Saudi subjects (n = 306) including patients with psoriasis (n = 106) and matched controls (n = 200) were studied for PTPN22 variants using tetra-primer amplification refractory mutation system-polymerase chain reaction method...
2018: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29345428/traf3-regulation-of-inhibitory-signaling-pathways-in-b-and-t-lymphocytes-by-kinase-and-phosphatase-localization
#12
REVIEW
Alicia M Wallis, Gail A Bishop
This brief review presents current understanding of how the signaling adapter protein TRAF3 can both induce and block inhibitory signaling pathways in B and T lymphocytes, via association with kinases and phosphatases, and subsequent regulation of their localization within the cell. In B lymphocytes, signaling through the interleukin 6 receptor (IL-6R) induces association of TRAF3 with IL-6R-associated JAK1, to which TRAF3 recruits the phosphatase PTPN22 (protein tyrosine phosphatase number 22) to dephosphorylate JAK1 and STAT3, inhibiting IL-6R signaling...
January 17, 2018: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29325864/infections-genetic-and-environmental-factors-in-pathogenesis-of-autoimmune-thyroid-diseases
#13
REVIEW
Sanjeev Kumar Shukla, Govind Singh, Shahzad Ahmad, Prabhat Pant
In Autoimmune disease a combination of infection, genetic and environmental factors causes an autoimmune response to the thyroid gland (characterized by lymphocytic infiltrations), thyroid stimulating hormone receptor (TSHR) and different thyroid antigens. Graves' and Hashimoto disease are autoimmune disorders with genetic predisposition. CD40 that stimulates the proliferation and differentiation of lymphocytes is an essential immunomodulatory component for follicular cells in the thyroid and the cell that present the antigen...
March 2018: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29310926/identification-of-non-hla-genes-associated-with-development-of-islet-autoimmunity-and-type-1-diabetes-in-the-prospective-teddy-cohort
#14
Ashok Sharma, Xiang Liu, David Hadley, William Hagopian, Wei-Min Chen, Suna Onengut-Gumuscu, Carina Törn, Andrea K Steck, Brigitte I Frohnert, Marian Rewers, Anette-G Ziegler, Åke Lernmark, Jorma Toppari, Jeffrey P Krischer, Beena Akolkar, Stephen S Rich, Jin-Xiong She
Traditional linkage analysis and genome-wide association studies have identified HLA and a number of non-HLA genes as genetic factors for islet autoimmunity (IA) and type 1 diabetes (T1D). However, the relative risk associated with previously identified non-HLA genes is usually very small as measured in cases/controls from mixed populations. Genetic associations for IA and T1D may be more accurately assessed in prospective cohorts. In this study, 5806 subjects from the TEDDY (The Environmental Determinants of Diabetes in the Young) study, an international prospective cohort study, were genotyped for 176,586 SNPs on the ImmunoChip...
January 5, 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29306244/tnf-alpha-863c-a-promoter-and-tnfrii-196t-g-exonic-variationsmay-be-risk-factors-for-juvenile-idiopathic-arthritis
#15
Bahadır Batar, Sezen Özman, Kenan Barut, Özgür Kasapçopur, Mehmet Güven
Background/aim: Juvenile idiopathic arthritis (JIA) is a chronic complex autoimmune disease. Genetic and environmental factors increase the risk of JIA. It is accepted that alterations in immune system pathways play an important role in the pathogenesis of JIA. The aim of the study was to investigate the possible association between immune system regulatory gene polymorphisms and JIA in Turkish patients. Materials and methods: We analyzed eight polymorphisms, TNF-alpha-863 C > A, TNFRII 196 T > G, IL2-631 G > A, IL13-1112 C > T, CCR2 190 G > A, CCR5delta32, CTLA4-1661 A > G, and PTPN22 1858 C > T, in 76 patients with JIA and in 80 healthy controls, who were of a similar age and same sex...
December 19, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29251774/altered-toll-like-receptor-responsiveness-underlies-a-dominant-heritable-defect-in-b-cell-tolerance-in-autoimmune-new-zealand-black-mice
#16
Amy G Clark, Elizabeth S Buckley, Mary H Foster
Systemic lupus erythematosus is a debilitating autoimmune disease in which autoantibodies and autoreactive T cells destroy kidneys and other organs. Disease is clinically and genetically heterogeneous, suggesting that underlying mechanisms vary between patients. We previously used an autoantibody transgenic mouse reporter system to examine the effect of different autoimmune backgrounds on B-cell tolerance, failure of which is a fundamental defect in lupus. We identified a defect consistent with reversible anergy induced by endotoxin stimulation of B cells from Ig transgenic New Zealand Black (NZB) mice...
March 2018: European Journal of Immunology
https://www.readbyqxmd.com/read/29183848/combinational-sirna-delivery-using-hyaluronic-acid-modified-amphiphilic-polyplexes-against-cell-cycle-and-phosphatase-proteins-to-inhibit-growth-and-migration-of-triple-negative-breast-cancer-cells
#17
Manoj B Parmar, Daniel Nisakar Meenakshi Sundaram, Remant Bahadur K C, Robert Maranchuk, Hamidreza Montazeri Aliabadi, Judith C Hugh, Raimar Löbenberg, Hasan Uludağ
Triple-negative breast cancer is an aggressive form of breast cancer with few therapeutic options if it recurs after adjuvant chemotherapy. RNA interference could be an alternative therapy for metastatic breast cancer, where small interfering RNA (siRNA) can silence the expression of aberrant genes critical for growth and migration of malignant cells. Here, we formulated a siRNA delivery system using lipid-substituted polyethylenimine (PEI) and hyaluronic acid (HA), and characterized the size, ζ-potential and cellular uptake of the nanoparticulate delivery system...
January 15, 2018: Acta Biomaterialia
https://www.readbyqxmd.com/read/29120582/role-of-ptpn22-1858-c-t-polymorphisms-in-juvenile-idiopathic-arthritis-in-egyptian-patients
#18
Yasser A Soliman, Nashwa I Hashaad, Sherin M Emam, Rehab R Mohamed
Juvenile idiopathic arthritis (JIA) the most common chronic arthropathy of childhood is a diverse group of chronic arthritis diseases. The protein tyrosine phosphatase N22 (PTPN22) gene exhibits regulatory activities for both T and B cells. This study aimed to study PTPN gene polymorphism in JIA. The study included 60 children with JIA and 40 age and sex matched healthy children as controls. Patients and control groups were subjected to PTPN gene polymorphism analysis. Our findings indicated a significant difference in PTPN22 polymorphism between JIA patients and the control group (P = 0...
January 2017: Egyptian Journal of Immunology
https://www.readbyqxmd.com/read/29116089/resistance-to-tgf%C3%AE-suppression-and-improved-anti-tumor-responses-in-cd8-t-cells-lacking-ptpn22
#19
Rebecca J Brownlie, Celine Garcia, Mate Ravasz, Dietmar Zehn, Robert J Salmond, Rose Zamoyska
Transforming growth factor β (TGFβ) is important in maintaining self-tolerance and inhibits T cell reactivity. We show that CD8+ T cells that lack the tyrosine phosphatase Ptpn22, a major predisposing gene for autoimmune disease, are resistant to the suppressive effects of TGFβ. Resistance to TGFβ suppression, while disadvantageous in autoimmunity, helps Ptpn22-/- T cells to be intrinsically superior at clearing established tumors that secrete TGFβ. Mechanistically, loss of Ptpn22 increases the capacity of T cells to produce IL-2, which overcomes TGFβ-mediated suppression...
November 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/29105157/reduced-numbers-of-mature-medullary-thymic-epithelial-cells-in-skg-mice
#20
R Engelmann, A Biemelt, A Johl, D Kuthning, B Müller-Hilke
Attenuated T cell receptor (TCR) signalling contributes to the susceptibility for autoimmunity as shown via mutants of PTPN22 and Zap70 genes. We here set out to investigate the effect of an attenuated TCR signal on the composition of the thymic epithelial cell (TEC) compartment. To that extent, we combined flow cytometry and histology and compared the TEC subpopulations of Zap70 wild type with SKG mutant mice. We found an increased cortical TEC compartment in SKG thymi at the expense of reduced numbers of mature medullary TECs and a 4...
January 2018: Scandinavian Journal of Immunology
keyword
keyword
30904
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"