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https://www.readbyqxmd.com/read/29140941/phenotype-and-management-of-infantile-onset-inflammatory-bowel-disease-experience-from-a-tertiary-care-center-in-china
#1
Ziqing Ye, Ying Zhou, Ying Huang, Yuhuan Wang, Junping Lu, Zifei Tang, Shijian Miao, Kuiran Dong, Zhinong Jiang
BACKGROUND: Infantile-onset inflammatory bowel disease (IBD) comprises rare and clinically severe disorders. We examined the phenotypes and genetic causes of patients with infantile-onset IBD from a tertiary medical center. METHODS: We enrolled 38 patients with infantile-onset IBD and applied standardized treatment with medical, surgical, and supportive care. Targeted sequencing and whole-exome sequencing were performed. Clinical data were retrieved from medical records...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29101382/deconvolution-of-transcriptional-networks-in-post-traumatic-stress-disorder-uncovers-master-regulators-driving-innate-immune-system-function
#2
Abolfazl Doostparast Torshizi, Kai Wang
Post-Traumatic Stress Disorder (PTSD) is a psychiatric disorder that develops in individuals experiencing a shocking incident, but the underlying disease susceptibility gene networks remain poorly understood. Breen et al. conducted a Weighted Gene Co-expression Network Analysis on PTSD, and identified a dysregulated innate immune module associated with PTSD development. To further identify the Master Regulators (MRs) driving the network function, here we deconvoluted the transcriptional networks on the same datasets using ARACNe (Algorithm for Reconstruction of Accurate Cellular Networks) followed by protein activity analysis...
November 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28988144/intracelluar-delivery-of-a20-protein-inhibits-tnf%C3%AE-induced-nf-%C3%AE%C2%BAb-activation
#3
Hye-Rim Lee, Jin Choi, Seung Hoon Lee, Mi-La Cho, Dae-Myung Jue
A20 (also known as TNFAIP3) is a potent anti-inflammatory protein that suppresses many intracellular signaling pathways induced by inflammatory cytokines and bacterial and viral pathogens. The anti-inflammatory function of A20 depends on its modulation of or binding to polyubiquitin chains on key signaling proteins in the nuclear factor-κB (NF-κB) pathway. To test whether A20 can be used as therapeutic agent in these inflammatory diseases, we prepared a recombinant cell-penetrating form of A20 (TAT-A20) for intracellular delivery and examined its effect on tumor necrosis factor-α (TNFα)-induced NF-κB activation...
October 4, 2017: Protein Expression and Purification
https://www.readbyqxmd.com/read/28983055/pattern-of-somatic-mutations-in-patients-with-waldenstr%C3%A3-m-macroglobulinemia-or-igm-monoclonal-gammopathy-of-undetermined-significance
#4
Marzia Varettoni, Silvia Zibellini, Irene Defrancesco, Virginia Valeria Ferretti, Ettore Rizzo, Luca Malcovati, Anna Gallì, Matteo Giovanni Della Porta, Emanuela Boveri, Luca Arcaini, Chiara Candido, Marco Paulli, Mario Cazzola
We analyzed MYD88 and CXCR4 mutation status of 260 patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance using allele-specific real time quantitative PCR and Sanger sequencing respectively. A subgroup of 119 patients was further studied with next-generation sequencing of 11 target genes (MYD88, CXCR4, ARID1-A, KMT2D, NOTCH2, TP53, PRDM1, CD79B, TRAF3, MYBBP1A, TNFAIP3). MYD88 (L265P) was found at diagnosis in 91% of patients with Waldenström macroglobulinemia and in 60% of patients with IgM monoclonal gammopathy of undetermined significance using allele-specific PCR...
October 5, 2017: Haematologica
https://www.readbyqxmd.com/read/28962035/immune-cell-and-transcriptomic-analysis-of-the-human-decidua-in-term-and-preterm-parturition
#5
S F Rinaldi, S Makieva, P T Saunders, A G Rossi, J E Norman
STUDY QUESTION: Is labour, both at term and preterm, associated with alterations in decidual lymphocyte densities and widespread changes to the decidual transcriptome? SUMMARY ANSWER: The onset of parturition, both at term and preterm, is associated with widespread gene expression changes in the decidua, many of which are related to inflammatory signalling, but is not associated with changes in the number of any of the decidual lymphocyte populations examined. WHAT IS KNOWN ALREADY: Given its location, directly at the maternal-foetal interface, the decidua is likely to play a pivotal role in the onset of parturition, however, the molecular events occurring in the decidua in association with the onset of labour, both at term and preterm, remain relatively poorly defined...
August 18, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28960754/genetic-heterogeneity-of-uncharacterized-childhood-autoimmune-diseases-with-lymphoproliferation
#6
Masatoshi Takagi, Akihiro Hoshino, Kenichi Yoshida, Hiroo Ueno, Kohsuke Imai, Jinhua Piao, Hirokazu Kanegane, Motoi Yamashita, Tsubasa Okano, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Seiji Kojima, Tomohiro Morio
Autoimmune diseases in children are rare and can be difficult to diagnose.  Single causative genes have been identified for some pediatric autoimmune diseases. Such orphan diseases may not be diagnosed properly due to the variability of patients' phenotypes. Guidelines for the diagnostic process need to be developed. Fifteen patients with uncharacterized childhood autoimmune diseases with lymphoproliferation that had negative testing for autoimmune lymphoproliferative syndrome were subjected to whole-exome sequencing to identify genes associated with these conditions...
September 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28934431/genetic-profiling-and-comorbidities-of-zika-infection
#7
Mohammad Ali Moni, Pietro Lio'
Background: The difficulty in distinguishing infection by Zika virus (ZIKV) from other flaviviruses is a global health concern, particularly given the high risk of neurologic complications (including Guillain-Barré syndrome [GBS]) with ZIKV infection. Methods: We developed quantitative frameworks to compare and explore infectome, diseasome, and comorbidity of ZIKV infections. We analyzed gene expression microarray and RNA-Seq data from ZIKV, West Nile fever (WNF), chikungunya, dengue, yellow fever, Japanese encephalitis virus, GBS, and control datasets...
September 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28903990/the-influence-of-type-1-diabetes-genetic-susceptibility-regions-age-sex-and-family-history-to-the-progression-from-multiple-autoantibodies-to-type-1-diabetes-a-teddy-study-report
#8
Jeffrey P Krischer, Xiang Liu, Åke Lernmark, William A Hagopian, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Anette-G Ziegler, Beena Akolkar
This paper seeks to determine whether factors related to autoimmunity risk remain significant after the initiation of two or more diabetes-related autoantibodies and continue to contribute to T1D risk among autoantibody positive children in The Environmental Determinants of Diabetes in the Young (TEDDY) study. Characteristics included are age at multiple autoantibody positivity, sex, selected high-risk HLA-DR-DQ genotypes, relationship to a family member with T1D, autoantibody at seroconversion, INS gene (rs1004446_A), and non-HLA gene polymorphisms identified by the Type 1 Diabetes Genetics Consortium...
September 13, 2017: Diabetes
https://www.readbyqxmd.com/read/28892161/a-gene-is-known-by-the-company-it-keeps-enrichment-of-tnfaip3-gene-aberrations-in-malt-lymphomas-expressing-ighv4-34-antigen-receptors
#9
Andreas Agathangelidis, Aliki Xochelli, Kostas Stamatopoulos
Associations between immunoglobulin (IG) receptors with distinctive immunogenetic features and particular gene mutations are a recurring theme in mature B-cell lymphomas. Relevant observations have been made in chronic lymphocytic leukemia (CLL), where gene mutations are distributed asymmetrically in cases bearing or not somatic hypermutations within the clonotypic immunoglobulin heavy chain variable region (IGHV) genes (e.g. TP53 mutations predominate in IG-unmutated CLL, whereas the opposite is seen for MYD88 mutations, enriched in IG-mutated CLL) and in subsets of cases with stereotyped IG (enrichment for SF3B1 mutations in CLL subset #2)...
September 11, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28888782/tnf-%C3%AE-induced-protein-3-levels-in-lung-dendritic-cells-instruct-th2-or-th17%C3%A2-cell-differentiation-in-eosinophilic-or-neutrophilic-asthma
#10
Heleen Vroman, Ingrid M Bergen, Jennifer A C van Hulst, Menno van Nimwegen, Denise van Uden, Martijn J Schuijs, Saravanan Y Pillai, Geert van Loo, Hamida Hammad, Bart N Lambrecht, Rudi W Hendriks, Mirjam Kool
BACKGROUND: It is currently unknown why allergen exposure or environmental triggers in patients with mild-to-moderate asthma result in TH2-mediated eosinophilic inflammation, whereas patients with severe asthma often present with TH17-mediated neutrophilic inflammation. The activation state of dendritic cells (DCs) is crucial for both TH2 and TH17 cell differentiation and is mediated through nuclear factor κB activation. Ablation of TNF-α-induced protein 3 (TNFAIP3), one of the crucial negative regulators of nuclear factor κB activation in myeloid cells and DCs, was shown to control DC activation...
September 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28888761/associations-between-tnfaip3-gene-polymorphisms-and-rheumatoid-arthritis-risk-a-meta-analysis
#11
Liang Zhang, Xier Yuan, Qiang Zhou, Jiujun Shi, Zhoufeng Song, Renfu Quan, Dawei Zhang
BACKGROUND AND AIMS: A host of studies investigated the associations between tumor necrosis factor alpha inducible protein 3 (TNFAIP3) gene rs2230926 and rs5029937 polymorphisms and rheumatoid arthritis (RA) susceptibility, but with conflicting findings. Therefore, we explored whether TNFAIP3 gene rs2230926 and rs5029937 polymorphisms are associated with RA by meta-analysis. MATERIAL AND METHODS: We performed out a comprehensive literature search of PubMed, Elsevier, Embase, and CNKI databases to identify relevant studies...
September 6, 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28878689/a20-tnfaip3-discriminates-tumor-necrosis-factor-tnf-induced-nf-%C3%AE%C2%BAb-from-jnk-pathway-activation-in-hepatocytes
#12
Federico Pinna, Michaela Bissinger, Katharina Beuke, Nicolas Huber, Thomas Longerich, Ursula Kummer, Peter Schirmacher, Sven Sahle, Kai Breuhahn
In the liver tumor necrosis factor (TNF)-induced signaling critically regulates the immune response of non-parenchymal cells as well as proliferation and apoptosis of hepatocytes via activation of the NF-κB and JNK pathways. Especially, the induction of negative feedback regulators, such as IκBα and A20 is responsible for the dynamic and time-restricted response of these important pathways. However, the precise mechanisms responsible for different TNF-induced phenotypes under physiological stimulation conditions are not completely understood so far...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28878257/molecular-mechanisms-governing-microrna-125a-expression-in-human-hepatocellular-carcinoma-cells
#13
Nicoletta Potenza, Marta Panella, Filomena Castiello, Nicola Mosca, Elena Amendola, Aniello Russo
MicroRNA-125a-5p (miR-125a) is a vertebrate homolog of lin-4, the first discovered microRNA, and plays a fundamental role in embryo development by downregulating Lin-28 protein. MiR-125a is also expressed in differentiated cells where it generally acts as an antiproliferative factor by targeting membrane receptors or intracellular transductors of mitogenic signals. MiR-125a expression is downregulated in several tumors, including hepatocellular carcinoma (HCC) where it targets sirtuin-7, matrix metalloproteinase-11, VEGF-A, Zbtb7a, and c-Raf...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28842689/altered-expression-of-tumor-necrosis-factor-alpha-induced-protein-3-correlates-with-disease-severity-in-ulcerative-colitis
#14
Ishani Majumdar, Vineet Ahuja, Jaishree Paul
Ulcerative colitis (UC), an inflammatory disorder of the colon arises from dysregulated immune response towards gut microbes. Transcription factor NFκB is a major regulatory component influencing mucosal inflammation. We evaluated expression of Tumor Necrosis Factor Alpha Induced Protein3 (TNFAIP3), the inhibitor of NFκB activation and its associated partners ITCH, RNF11 and Tax1BP1 in inflamed mucosa of UC patients. We found highly significant up-regulated mRNA expression of TNFAIP3 that negatively correlated with disease activity in UC...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28820283/n-3-pufas-induce-inflammatory-tolerance-by-formation-of-keap1-containing-sqstm1-p62-bodies-and-activation-of-nfe2l2
#15
Jennifer Mildenberger, Ida Johansson, Ismail Sergin, Eli Kjøbli, Jan Kristian Damås, Babak Razani, Trude Helen Flo, Geir Bjørkøy
Inflammation is crucial in the defense against infections but must be tightly controlled to limit detrimental hyperactivation. Our diet influences inflammatory processes and omega-3 polyunsaturated fatty acids (n-3 PUFAs) have known anti-inflammatory effects. The balance of pro- and anti-inflammatory processes is coordinated by macrophages and macroautophagy/autophagy has recently emerged as a cellular process that dampens inflammation. Here we report that the n-3 PUFA docosahexaenoic acid (DHA) transiently induces cytosolic speckles of the autophagic receptor SQSTM1/p62 (sequestosome 1) (described as SQSTM1/p62-bodies) in macrophages...
October 3, 2017: Autophagy
https://www.readbyqxmd.com/read/28791018/genetic-and-functional-associations-with-decreased-anti-inflammatory-tumor-necrosis-factor-alpha-induced-protein-3-in-macrophages-from-subjects-with-axial-spondyloarthritis
#16
Yiping Liu, Zhan Ye, Xiang Li, Jennifer L Anderson, Mike Khan, Douglas DaSilva, Marissa Baron, Deborah Wilson, Vera Bocoun, Lynn C Ivacic, Steven J Schrodi, Judith A Smith
OBJECTIVE: Tumor necrosis factor alpha-induced protein 3 (TNFAIP3) is an anti-inflammatory protein implicated in multiple autoimmune and rheumatologic conditions. We hypothesized that lower levels of TNFAIP3 contributes to excessive cytokine production in response to inflammatory stimuli in axial spondyloarthritis (AxSpA). A further aim was to determine the immune signaling and genetic variation regulating TNFAIP3 expression in individual subjects. METHODS: Blood-derived macrophages from 50 AxSpA subjects and 30 healthy controls were assessed for TNFAIP3 expression...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28777869/-progress-in-genetic-research-on-psoriatic-arthritis
#17
Yan Ju, Erle Dang, Chunxiang Yang, Hongping Song
Psoriatic arthritis is a form of inflammatory arthritis found among patients with psoriasis, which can lead to pain, swelling or stiffness in one or more joints and even movement disorders. Epidemiological studies have shown a higher heritability for psoriatic arthritis compared with psoriasis vulgaris. With the evolvement of DNA sequencing, many genes have been associated with psoriasis vulgaris and psoriatic arthritis, which included MHC, TNF, LCE, IL23R, IL12B, TRAF3IP2 and TNFAIP3, though some, such as MHC, IL-13 and PTPN22, have been specifically associated with psoriatic arthritis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771803/a20-restores-phorbol-ester-induced-differentiation-of-thp-1-cells-in-the-absence-of-nuclear-factor-%C3%AE%C2%BAb-activation
#18
Miho Osako, Momoe Itsumi, Haruka Yamaguchi, Hiroaki Takeuchi, Shoji Yamaoka
A20, also referred to as tumor necrosis factor alpha (TNFα)-induced protein 3 (TNFAIP3), is an ubiquitin-editing enzyme whose expression is enhanced by NF-κB activation, and plays an important role in silencing NF-κB activity. Another well-known role for A20 is to protect cells from TNFα-induced apoptosis. Depletion of NF-κB in differentiating U937 monocytic leukemia cells is known to cause apoptotic cell death; however, much remains to be explored about the molecules that are expressed in an NF-κB-dependent manner and which support monocyte-macrophage differentiation...
August 3, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28751561/exome-sequencing-identifies-recurrent-bcor-alterations-and-the-absence-of-klf2-tnfaip3-and-myd88-mutations-in-splenic-diffuse-red-pulp-small-b-cell-lymphoma
#19
Laurent Jallades, Lucile Baseggio, Pierre Sujobert, Sarah Huet, Kaddour Chabane, Evelyne Callet-Bauchu, Aurélie Verney, Sandrine Hayette, Jean-Pierre Desvignes, David Salgado, Nicolas Levy, Christophe Béroud, Pascale Felman, Françoise Berger, Jean-Pierre Magaud, Laurent Genestier, Gilles Salles, Alexandra Traverse-Glehen
Splenic diffuse red pulp lymphoma is an indolent small B-cell lymphoma recognized as a provisional entity in the World Health Organization 2008 classification. Its precise relationship to other related splenic B-cell lymphomas with frequent leukemic involvement or other lymphoproliferative disorders remains undetermined. We performed whole-exome sequencing to explore the genetic landscape of ten cases of splenic diffuse red pulp lymphoma using paired tumor and normal samples. A selection of 109 somatic mutations was then evaluated in a cohort including 42 samples of splenic diffuse red pulp lymphoma and compared to those identified in 46 samples of splenic marginal zone lymphoma and eight samples of hairy-cell leukemia...
October 2017: Haematologica
https://www.readbyqxmd.com/read/28750567/impact-of-pharmacogenomics-upon-the-therapeutic-response-to-etanercept-in-psoriasis-and-psoriatic-arthritis
#20
REVIEW
Giuseppe Murdaca, Simone Negrini, Ottavia Magnani, Elena Penza, Marco Pellecchio, Francesco Puppo
TNF-α inhibitors have demonstrated efficacy both as monotherapy and in combination with disease-modifying anti-rheumatic drugs (DMARDs) in the treatment of chronic inflammatory immune-mediated diseases. Etanercept is a decoy receptor" for TNF-α and it is composed of two p75 TNF-α receptors fused to human IgG1. Areas covered: We discuss the potential role of pharmacogenetics in predicting the response to etanercept in patients with Ps and PsA. Expert opinion: Pharmacogenetics represents the new frontier for the discovery of potential genetic markers of biological response to TNF-α inhibitors...
October 2017: Expert Opinion on Drug Safety
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