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https://www.readbyqxmd.com/read/28351661/immunostimulatory-endogenous-nucleic-acids-drive-the-lesional-inflammation-in-cutaneous-lupus-erythematosus
#1
Benedikt Scholtissek, Sabine Zahn, Judith Maier, Sophie Klaeschen, Christine Braegelmann, Michael Hoelzel, Thomas Bieber, Winfried Barchet, Joerg Wenzel
Cutaneous lupus erythematosus (CLE) is a photosensitive autoimmune disease characterized by a strong type-I-interferon (IFN) associated inflammation. Keratinocytes are known to determine the interface-dermatitis-pattern in CLE by production of proinflammatory cytokines in the lower epidermis. These cytokines drive a cytotoxic anti-epithelial immune response resulting in keratinocytic cell death and release of endogenous nucleic acids (eNA). We hypothesized that these eNA (RNA- and DNA-motifs) have the capacity to activate innate immune pathways in keratinocytes via pathogen-recognition-receptors (PRR)...
March 25, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28334850/aicardi-gouti%C3%A3-res-syndrome-protein-trex1-suppresses-l1-and-maintains-genome-integrity-through-exonuclease-independent-orf1p-depletion
#2
Peng Li, Juan Du, John L Goodier, Jingwei Hou, Jian Kang, Haig H Kazazian, Ke Zhao, Xiao-Fang Yu
Maintaining genome integrity is important for cells and damaged DNA triggers autoimmunity. Previous studies have reported that Three-prime repair exonuclease 1(TREX1), an endogenous DNA exonuclease, prevents immune activation by depleting damaged DNA, thus preventing the development of certain autoimmune diseases. Consistently, mutations in TREX1 are linked with autoimmune diseases such as systemic lupus erythematosus, Aicardi-Goutières syndrome (AGS) and familial chilblain lupus. However, TREX1 mutants competent for DNA exonuclease activity are also linked to AGS...
March 15, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28325644/dnase-active-trex1-frame-shift-mutants-induce-serologic-autoimmunity-in-mice
#3
Tomomi Sakai, Takuya Miyazaki, Dong-Mi Shin, Yong-Soo Kim, Chen-Feng Qi, Robert Fariss, Jeeva Munasinghe, Hongsheng Wang, Alexander L Kovalchuk, Parul H Kothari, Charles S Fermaintt, John P Atkinson, Fred W Perrino, Nan Yan, Herbert C Morse
TREX1/DNASE III, the most abundant 3'-5' DNA exonuclease in mammalian cells, is tail-anchored on the endoplasmic reticulum (ER). Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as Aicardi-Goutières syndrome (AGS). Mutations in the C-terminus of TREX1 cause loss of localization to the ER and dysregulation of oligosacchryltransferase (OST) activity, and are associated with retinal vasculopathy with cerebral leukodystrophy (RVCL) and in some cases with systemic lupus erythematosus (SLE)...
March 18, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28297665/mitotic-phosphorylation-of-trex1-c-terminus-disrupts-trex1-regulation-of-the-oligosaccharyltransferase-complex
#4
Martin Kucej, Charles S Fermaintt, Kun Yang, Ricardo A Irizarry-Caro, Nan Yan
TREX1 mutations are associated with several autoimmune and inflammatory diseases. The N-terminal DNase domain of TREX1 is important for preventing self-DNA from activating the interferon response. The C terminus of TREX1 is required for ER localization and regulation of oligosacchariyltransferase (OST) activity. Here, we show that during mitosis TREX1 is predominately phosphorylated at the C-terminal Serine-261 by Cyclin B/CDK1. TREX1 is dephosphorylated quickly at mitotic exit, likely by PP1/PP2-type serine/threonine phosphatase...
March 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/28279982/a-prosurvival-dna-damage-induced-cytoplasmic-interferon-response-is-mediated-by-end-resection-factors-and-is-limited-by-trex1
#5
Erkin Erdal, Syed Haider, Jan Rehwinkel, Adrian L Harris, Peter J McHugh
Radiotherapy and chemotherapy are effective treatment methods for many types of cancer, but resistance is common. Recent findings indicate that antiviral type I interferon (IFN) signaling is induced by these treatments. However, the underlying mechanisms still need to be elucidated. Expression of a set of IFN-stimulated genes comprises an IFN-related DNA damage resistance signature (IRDS), which correlates strongly with resistance to radiotherapy and chemotherapy across different tumors. Classically, during viral infection, the presence of foreign DNA in the cytoplasm of host cells can initiate type I IFN signaling...
February 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28271496/genetics-of-migraine-insights-into-the-molecular-basis-of-migraine-disorders
#6
REVIEW
Heidi G Sutherland, Lyn R Griffiths
Migraine is a complex, debilitating neurovascular disorder, typically characterized by recurring, incapacitating attacks of severe headache often accompanied by nausea and neurological disturbances. It has a strong genetic basis demonstrated by rare migraine disorders caused by mutations in single genes (monogenic), as well as familial clustering of common migraine which is associated with polymorphisms in many genes (polygenic). Hemiplegic migraine is a dominantly inherited, severe form of migraine with associated motor weakness...
April 2017: Headache
https://www.readbyqxmd.com/read/28089741/inflammatory-myopathy-in-a-patient-with-aicardi-gouti%C3%A3-res-syndrome
#7
Birutė Tumienė, Norine Voisin, Eglė Preikšaitienė, Donatas Petroška, Jurgita Grikinienė, Rūta Samaitienė, Algirdas Utkus, Alexandre Reymond, Vaidutis Kučinskas
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28069950/chronic-innate-immune-activation-of-tbk1-suppresses-mtorc1-activity-and-dysregulates-cellular-metabolism
#8
Maroof Hasan, Vijay K Gonugunta, Nicole Dobbs, Aktar Ali, Guillermo Palchik, Maria A Calvaruso, Ralph J DeBerardinis, Nan Yan
Three-prime repair exonuclease 1 knockout (Trex1(-/-)) mice suffer from systemic inflammation caused largely by chronic activation of the cyclic GMP-AMP synthase-stimulator of interferon genes-TANK-binding kinase-interferon regulatory factor 3 (cGAS-STING-TBK1-IRF3) signaling pathway. We showed previously that Trex1-deficient cells have reduced mammalian target of rapamycin complex 1 (mTORC1) activity, although the underlying mechanism is unclear. Here, we performed detailed metabolic analysis in Trex1(-/-) mice and cells that revealed both cellular and systemic metabolic defects, including reduced mitochondrial respiration and increased glycolysis, energy expenditure, and fat metabolism...
January 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28013302/trex1-mutation-in-leukodystrophy-with-calcifications-and-persistent-gadolinium-enhancement
#9
Clarisse Carra-Dalliere, Xavier Ayrignac, Carol Prieto-Morin, Philippe Girard, Elisabeth Tournier-Lasserve, Pierre Labauge
No abstract text is available yet for this article.
2017: European Neurology
https://www.readbyqxmd.com/read/27988520/dna-sensing-and-nuclease-gene-expressions-as-markers-for-colorectal-cancer-progression
#10
Chin-An Yang, Hsi-Yuan Huang, Ya-Sian Chang, Chia-Li Lin, I-Lu Lai, Jan-Gowth Chang
OBJECTIVE: Oncogene-driven stress-related DNA damage has been observed in lesions of colon cancer. Furthermore, DNA sensors and nucleases are stimulated during active DNA damage and replication. However, their changes and influences with respect to cancer remain largely unknown. METHODS: The gene expression levels of cGAS, IFI16, STING, TBK1, IFNB1, TREX1, SAMHD1, RNASEH2A, RNASEH2B, and RNASEH2C were examined in the paired colorectal cancer and adjacent normal part tissues of 53 patients...
2017: Oncology
https://www.readbyqxmd.com/read/27886180/microrna-regulation-of-endothelial-trex1-reprograms-the-tumour-microenvironment
#11
RaeAnna Wilson, Cristina Espinosa-Diez, Nathan Kanner, Namita Chatterjee, Rebecca Ruhl, Christina Hipfinger, Sunil J Advani, Jie Li, Omar F Khan, Aleksandra Franovic, Sara M Weis, Sushil Kumar, Lisa M Coussens, Daniel G Anderson, Clark C Chen, David A Cheresh, Sudarshan Anand
Rather than targeting tumour cells directly, elements of the tumour microenvironment can be modulated to sensitize tumours to the effects of therapy. Here we report a unique mechanism by which ectopic microRNA-103 can manipulate tumour-associated endothelial cells to enhance tumour cell death. Using gain-and-loss of function approaches, we show that miR-103 exacerbates DNA damage and inhibits angiogenesis in vitro and in vivo. Local, systemic or vascular-targeted delivery of miR-103 in tumour-bearing mice decreased angiogenesis and tumour growth...
November 25, 2016: Nature Communications
https://www.readbyqxmd.com/read/27884288/trex-through-cutaneous-health%C3%A2-and%C3%A2-disease
#12
Alicia R Mathers
TREX1 and 2 are exonucleases that repair and degrade DNA. Degradation of DNA is involved in maintaining the integrity of the epidermis. The importance of these enzymes to cutaneous integrity is observed when TREX1 and TREX2 pathways become aberrant, and autoimmune or cancerous diseases ensue. Manils et al. have now shown that overexpression of TREX2 may play a role in potentiating psoriasis. Thus, these pathways are likely targets for novel therapeutics.
December 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27881153/verification-of-trex1-as-a-promising-indicator-of-judging-the-prognosis-of-osteosarcoma
#13
Jinyi Feng, Ruilong Lan, Guanxiong Cai, Jinluan Lin, Xinwen Wang, Jianhua Lin, Deping Han
BACKGROUND: The study aimed to explore the correlation between the expression of TREX1 and the metastasis and the survival time of patients with osteosarcoma as well as biological characteristics of osteosarcoma cells for the prognosis judgment of osteosarcoma. METHOD: The correlation between the expression of TREX1 protein and the occurrence of pulmonary metastasis in 45 cases of osteosarcoma was analyzed. The CD133(+) and CD133(-) cell subsets of osteosarcoma stem cells were sorted by the flow cytometry...
November 24, 2016: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/27812953/monogenic-lupus
#14
REVIEW
Mindy S Lo
PURPOSE OF REVIEW: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease known for its clinical heterogeneity. Over time, new insights into the complex genetic origin of SLE have started to explain some of this clinical variability. These findings, reviewed here, have also yielded important understanding in the immune mechanisms behind SLE pathogenesis. RECENT FINDINGS: Several new monogenic disorders with lupus-like phenotype have been described...
December 2016: Current Rheumatology Reports
https://www.readbyqxmd.com/read/27773153/sporadic-case-of-retinal-vasculopathy-with-cerebral-leukodystrophy-hereditary-endotheliopathy-retinopathy-nephropathy-stroke-with-novel-trex1-mutation
#15
Bonnie Scurry, Thomas Wellings, Himanshu Goel, Anja Pluschke
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27773052/identification-of-a-pathogenic-variant-in-trex1-in-early-onset-cerebral-sle-by-whole-exome-sequencing
#16
Julia I Ellyard, Rebekka Jerjen, Jaime L Martin, Adrian Lee, Matthew A Field, Simon H Jiang, Jean Cappello, Svenja K Naumann, T Daniel Andrews, Hamish S Scott, Marco G Casarotto, Christopher C Goodnow, Jeffrey Chaitow, Virginia Pascual, Paul Hertzog, Stephen I Alexander, Matthew C Cook, Carola G Vinuesa
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27643693/neurologic-phenotypes-associated-with-mutations-in-trex1-rnaseh2a-rnaseh2b-rnaseh2c-samhd1-adar1-and-ifih1-aicardi-gouti%C3%A3-res-syndrome-and-beyond
#17
REVIEW
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27604306/retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations
#18
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27574969/a-synonymous-variant-in-trex1-is-associated-with-systemic-sclerosis-and-severe-digital-ischaemia
#19
M Hughes, J Little, A L Herrick, S Pushpakom, H Byers, J Worthington, W G Newman
No abstract text is available yet for this article.
January 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/27566796/familial-chilblain-lupus-due-to-a-gain-of-function-mutation-in-sting
#20
Nadja König, Christoph Fiehn, Christine Wolf, Max Schuster, Emanuel Cura Costa, Victoria Tüngler, Hugo Ariel Alvarez, Osvaldo Chara, Kerstin Engel, Raphaela Goldbach-Mansky, Claudia Günther, Min Ae Lee-Kirsch
OBJECTIVES: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. METHODS: Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and docking simulations. Type I interferon (IFN) activation was assessed in cells transfected with STING cDNA using an IFN-β reporter and Western blotting...
August 26, 2016: Annals of the Rheumatic Diseases
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