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https://www.readbyqxmd.com/read/29355610/maternal-t-cell-engraftment-impedes-with-diagnosis-of-a-scid-ada-patient
#1
Arnalda Lanfranchi, Vassilios Lougaris, Lucia Dora Notarangelo, Elena Soncini, Marta Comini, Alessandra Beghin, Federica Bolda, Alessandro Montanelli, Luisa Imberti, Fulvio Porta
We describe the case of a child affected by severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency showing a maternal T-cell engraftment, a finding that has never been reported before. The presence of engrafted maternal T cells was misleading. Although ADA enzymatic levels were suggestive of ADA-SCID, the child did not present the classical signs of ADA deficiency; therefore, the initial diagnosis was of a conventional SCID. However, ADA toxic metabolites and molecular characterization confirmed this diagnosis...
January 16, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29353670/simultaneous-detection-of-5-fluorocytosine-and-5-fluorouracil-in-human-cells-carrying-cd-5-fc-suicide-gene-system-by-using-capillary-zone-electrophoresis
#2
Yajing Liu, Pan Zhu, Zhiwei Huang, Li Zhou, Ping Shi
A well-known suicide gene therapy approach, cytosine deaminase (CD) in combination with prodrug 5-flurocytosine (5-FC), has become an effective strategy of tumor treatment. However, there are short of simple and convenient detection methods to evaluate the efficiency of 5-FC conversion to 5-fluorouracil (5-FU) in human cells carrying various CD/5-FC systems. In this study, we developed an effective capillary zone electrophoresis (CZE) method to simultaneously measure 5-FC and 5-FU in cells carrying CD/5-FC suicide gene system...
January 7, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29353318/diagnostic-value-of-vascular-endothelial-growth-factor-transforming-growth-factor-%C3%AE-interleukin-8-and-the-ratio-of-lactate-dehydrogenase-to-adenosine-deaminase-in-pleural-effusion
#3
Takeshi Saraya, Kosuke Ohkuma, Takayasu Watanabe, Sunao Mikura, Fumi Kobayashi, Junpei Aso, Hiroki Nunokawa, Kojiro Honda, Yukari Ogawa, Masaki Tamura, Mitsuru Sada, Miku Oda, Manami Inoue, Takuma Yokoyama, Daisuke Kurai, Haruyuki Ishii, Hirokazu Kimura, Hajime Takizawa
PURPOSE: We studied the diagnostic value of cytokines, including vascular endothelial growth factor (VEGF), transforming growth factor-β (TGF-β), and interleukin-8 (IL-8), and the ratio of lactate dehydrogenase (LDH) to adenosine deaminase (ADA) in pleural fluid. METHODS: Prospective analysis of 44 inpatients or outpatients with pleural fluid, from December 2016 to March 2017 was conducted. RESULTS: We enrolled patients with malignant pleural effusion (MPE, N = 15), empyema (N = 11), parapneumonic effusion (PPE, N = 7), chronic renal failure (CRF)/chronic heart failure (CHF) (N = 7), and tuberculous pleural effusion (TBPE, N = 4)...
January 20, 2018: Lung
https://www.readbyqxmd.com/read/29347817/biochemical-basis-of-apobec3-deoxycytidine-deaminase-activity-on-diverse-dna-substrates
#4
Madison B Adolph, Robin P Love, Linda Chelico
The Apolipoprotein B mRNA editing complex (APOBEC) family of enzymes are single-stranded polynucleotide cytidine deaminases. These enzymes catalyze the deamination of cytidine in RNA or single-stranded DNA, which forms uracil. From this eleven member enzyme family in humans, the deamination of single-stranded DNA by the seven APOBEC3 family members are considered here. The APOBEC3 family has many roles such as, restricting endogenous and exogenous retrovirus replication and retrotransposon insertion events and reducing DNA-induced inflammation...
January 18, 2018: ACS Infectious Diseases
https://www.readbyqxmd.com/read/29345375/understanding-the-regulation-of-apobec3-expression-current-evidence-and-much-to-learn
#5
REVIEW
Daniela Angela Covino, Maria Cristina Gauzzi, Laura Fantuzzi
The apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3 (APOBEC3) family of cytosine deaminases plays crucial roles in innate immunity through the ability of restricting viral replication by deamination and mutation of viral genomes. The antiviral function of these proteins was first discovered when research in the field of HIV infection revealed that one member of the family, namely APOBEC3G, restricts HIV infection in T lymphocytes and that the viral infectivity factor protein drives the proteosomal degradation of this enzyme, thus overriding its antiviral function...
December 15, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29344184/therapeutic-effects-of-adenovirus-mediated-cd-and-nis-expression-combined-with-na131i-5-fc-on-human-thyroid-cancer
#6
Meng-Hui Yuan, Long-Xiao Wei, Run-Suo Zhou, Hai-Feng Xu, Jun-Yan Wang, Qian-Rong Bai
Thyroid cancer is the most common type of malignant endocrine tumor diagnosed. Previous studies have indicated that gene therapy is the most promising and effective therapeutic method for thyroid cancer. Therefore, in the present study, Na131I/5-fluorocytosine (5-FC) treatment was combined with cytosine deaminase (CD, encoded by the CDA gene) and sodium iodide symporter (NIS, encoded by the SLC5A5 gene) to act together as a therapeutic tool for thyroid cancer. The present study explored the combined cytotoxic effects of adenovirus-mediated CD and NIS under the control of the progression elevated gene-3 (PEG-3) promoter (Ad-PEG-3-CD-NIS) with Na131I/5-FC against the human thyroid cancer TT cell line in vitro...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343743/expression-and-subcellular-localisation-of-aid-and-apobec3-in-adenoid-and-palatine-tonsils
#7
Noriko Seishima, Satoru Kondo, Kousho Wakae, Naohiro Wakisaka, Eiji Kobayashi, Makoto Kano, Makiko Moriyama-Kita, Yosuke Nakanishi, Kazuhira Endo, Tomoko Imoto, Kazuya Ishikawa, Hisashi Sugimoto, Miyako Hatano, Takayoshi Ueno, Miki Koura, Koichi Kitamura, Masamichi Muramatsu, Tomokazu Yoshizaki
Activation-induced cytidine deaminase (AID) and apolipoprotein B mRNA-editing catalytic polypeptide 3 (A3) family are cytidine deaminases that play critical roles in B-cell maturation, antiviral immunity and carcinogenesis. Adenoids and palatine tonsils are secondary lymphoid immune organs, in which AID and A3s are thought to have several physiological or pathological roles. However, the expression of AID or A3s in these organs has not been investigated. Therefore, we investigated the expression profiles of AID and A3s, using 67 samples of adenoids and palatine tonsils from patients, with reverse transcription quantitative polymerase chain reaction (RT-qPCR) and immunohistochemical analyses...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29340219/a-novel-hybrid-promoter-are-htert-for-cancer-gene-therapy
#8
S V Kalinichenko, M V Shepelev, P N Vikhreva, I V Korobko
describe a novel hybrid tumor-specific promoter, ARE-hTERT, composed of the human TERT gene promoter (hTERT) and the antioxidant response element (ARE) from the human GCLM gene promoter. The hybrid promoter retains the tumor specificity of the basal hTERT promoter but is characterized by an enhanced transcriptional activity in cancer cells with abnormal activation of the Nrf2 transcription factor and upon induction of oxidative stress. In the in vitro enzyme-prodrug cancer gene therapy scheme, ARE-hTERT promoter-driven expression of CD : UPRT (yeast cytosine deaminase : uracil phosphoribosyltransferase) chimeric protein induced a more pronounced death of cancer cells either upon treatment with 5-fluorouracil (5FC) alone or when 5FC was combined with chemotherapeutic drugs as compared to the hTERT promoter...
October 2017: Acta Naturae
https://www.readbyqxmd.com/read/29335468/aicda-drives-epigenetic-heterogeneity-and-accelerates-germinal-center-derived-lymphomagenesis
#9
Matt Teater, Pilar M Dominguez, David Redmond, Zhengming Chen, Daisuke Ennishi, David W Scott, Luisa Cimmino, Paola Ghione, Jayanta Chaudhuri, Randy D Gascoyne, Iannis Aifantis, Giorgio Inghirami, Olivier Elemento, Ari Melnick, Rita Shaknovich
Epigenetic heterogeneity is emerging as a feature of tumors. In diffuse large B-cell lymphoma (DLBCL), increased cytosine methylation heterogeneity is associated with poor clinical outcome, yet the underlying mechanisms remain unclear. Activation-induced cytidine deaminase (AICDA), an enzyme that mediates affinity maturation and facilitates DNA demethylation in germinal center (GC) B cells, is required for DLBCL pathogenesis and linked to inferior outcome. Here we show that AICDA overexpression causes more aggressive disease in BCL2-driven murine lymphomas...
January 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29332656/germ-cell-tumor-causing-pleural-effusion-a-diagnostic-dilemma
#10
Surabhi Jaggi, Reetu Kundu, Sanjeev Binji, Uma Handa, Varinder Saini
Straw colored pleural fluid with raised adenosine deaminase (ADA) levels in young healthy adults usually raises suspicion of tuberculosis, sometimes leading to laxity in carrying thorough physical examination and missing out some important clues with potential disastrous consequences. A 35-year-old male was diagnosed to have left pleural effusion and anti-tubercular treatment was started on the basis of straw colored, lymphocyte-predominant pleural fluid with significantly raised ADA levels. When there was no improvement after 1 month of treatment he was investigated further and found to have a mediastinal mass along with hydro-pneumothorax...
January 2018: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/29332644/role-of-serum-adenosine-deaminase-in-pulmonary-tuberculosis
#11
Varinder Saini, Bhaskar Lokhande, Shivani Jaswal, Deepak Aggarwal, Kranti Garg, Jasbinder Kaur
BACKGROUND: Definitive laboratory diagnosis and confirmation of tuberculosis remains a major challenge because of lack of specificity and sensitivity of diagnostic methods especially in sputum smear negative tuberculosis. Many studies have proved the role of ADA in diagnosis of tuberculosis in effusion fluids and a decrease in ADA activity after treatment. This study was aimed to investigate the role of serum ADA level as an early diagnostic and prognostic marker for pulmonary tuberculosis (PTB)...
January 2018: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/29327521/cerebrospinal-fluid-a-clinicopathologic-analysis
#12
Asha Shenoy, Heena Desai, Aparna Mandvekar
Context and Objective: This study aims to emphasize the importance of an appropriate CSF examination in patients of suspected CNS disease and the necessity of correlating it with the clinico-radiologic findings which will help in early diagnosis of CNS diseases and guide the further management of the disease. Design: In this 2 year study, 215 CSF samples from patients with clinically suspected diseases of the CNS were studied. The CSF samples were analyzed for gross examination, protein, sugar, adenosine deaminase (ADA) levels, microscopic examination and microbiologic examination...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29327464/the-expression-of-an-exogenous-acc-deaminase-by-the-endophyte-serratia-grimesii-bxf1-promotes-the-early-nodulation-and-growth-of-common-bean
#13
Maria J Tavares, Francisco X Nascimento, Bernard R Glick, Márcio J Rossi
Ethylene acts as an inhibitor of the nodulation process of leguminous plants. However, some bacteria can decrease deleterious ethylene levels by the action of the enzyme 1-aminocyclopropane-1-carboxylate (ACC) deaminase which degrades ACC, the ethylene precursor in all higher plants. Co-inoculation of rhizobia with endophytes enhances the rhizobial symbiotic efficiency with legumes, improving both nodulation and nitrogen fixation. However, not much is understood about the mechanisms employed by these endophytic bacteria...
January 11, 2018: Letters in Applied Microbiology
https://www.readbyqxmd.com/read/29324308/antacids-side-effect-hyperuricaemia-could-be-alleviated-by-long-term-aerobic-exercise-via-accelerating-atp-turnover-rate
#14
Shu Yuan, Zhong-Wei Zhang, Zi-Lin Li
Hyperuricemia is the term for an abnormally high serum uric acid level. Many factors contribute to hyperuricemia, however no definite correlation between proton pump inhibitors (PPIs) and hyperuricemia has been reported before. Physical exercise also decreases serum uric acid levels. However, the detailed biochemical-regulatory mechanisms remain unknown. Here we found that adenylate deaminase activities are much higher in hyperuricemia patients than in the healthy people. Therefore, the patients have higher levels of adenosine metabolites hypoxanthine and uric acid...
January 8, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29323274/apobec3-induces-mutations-during-repair-of-crispr-cas9-generated-dna-breaks
#15
Liqun Lei, Hongquan Chen, Wei Xue, Bei Yang, Bian Hu, Jia Wei, Lijie Wang, Yiqiang Cui, Wei Li, Jianying Wang, Lei Yan, Wanjing Shang, Jimin Gao, Jiahao Sha, Min Zhuang, Xingxu Huang, Bin Shen, Li Yang, Jia Chen
The APOBEC-AID family of cytidine deaminase prefers single-stranded nucleic acids for cytidine-to-uridine deamination. Single-stranded nucleic acids are commonly involved in the DNA repair system for breaks generated by CRISPR-Cas9. Here, we show in human cells that APOBEC3 can trigger cytidine deamination of single-stranded oligodeoxynucleotides, which ultimately results in base substitution mutations in genomic DNA through homology-directed repair (HDR) of Cas9-generated double-strand breaks. In addition, the APOBEC3-catalyzed deamination in genomic single-stranded DNA formed during the repair of Cas9 nickase-generated single-strand breaks in human cells can be further processed to yield mutations mainly involving insertions or deletions (indels)...
January 2018: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29322091/a-retroviral-replicating-vector-encoding-cytosine-deaminase-and-5-fc-induces-immune-memory-in-metastatic-colorectal-cancer-models
#16
Kader Yagiz, Maria E Rodriguez-Aguirre, Fernando Lopez Espinoza, Tiffany T Montellano, Daniel Mendoza, Leah A Mitchell, Carlos E Ibanez, Noriyuki Kasahara, Harry E Gruber, Douglas J Jolly, Joan M Robbins
Treatment of tumors with Toca 511, a gamma retroviral replicating vector encoding cytosine deaminase, followed by 5-fluorocytosine (5-FC) kills tumors by local production of 5-fluorouracil (5-FU). In brain tumor models, this treatment induces systemic anti-tumor immune responses and long-term immune-mediated survival. Phase 1 Toca 511 and Toca FC (extended-release 5-FC) clinical trials in patients with recurrent high-grade glioma show durable complete responses and promising survival data compared to historic controls...
March 30, 2018: Molecular Therapy Oncolytics
https://www.readbyqxmd.com/read/29321370/activation-induced-cytidine-deaminase-deficiency-accelerates-autoimmune-diabetes-in-nod-mice
#17
Qiyuan Tan, Ningwen Tai, Yangyang Li, James Pearson, Sean Pennetti, Zhiguang Zhou, F Susan Wong, Li Wen
B cells play an important role in type 1 diabetes (T1D) development. However, the role of B cell activation-induced cytidine deaminase (AID) in diabetes development is not clear. We hypothesized that AID is important in the immunopathogenesis of T1D. To test this hypothesis, we generated AID-deficient (AID-/-) NOD mice. We found that AID-/-NOD mice developed accelerated T1D, with worse insulitis and high levels of anti-insulin autoantibody in the circulation. Interestingly, neither maternal IgG transferred through placenta, nor IgA transferred through milk affected the accelerated diabetes development...
January 11, 2018: JCI Insight
https://www.readbyqxmd.com/read/29321362/a-novel-missense-mutation-of-adar1-gene-in-a-chinese-family-leading-to-dyschromatosis-symmetrica-hereditaria-and-literature-review
#18
Shuai-Mei Liu, Meng-Xia Ni, Ming-Chao Zhang, Pei-Ran Zhu, Qiu-Yu Wu, Wei-Jun Jiang, Jing Zhang, Wei-Wei Li, Xin-Yi Xia
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals.Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29321331/germline-igm-is-sufficient-but-not-required-for-antibody-mediated-alphavirus-clearance-from-the-central-nervous-system
#19
Voraphoj Nilaratanakul, Jie Chen, Oanh Tran, Victoria K Baxter, Elizabeth M Troisi, Jane X Yeh, Diane E Griffin
Sindbis virus (SINV) infection of neurons in the brain and spinal cord in mice provides a model system for investigating recovery from encephalomyelitis and antibody-mediated clearance of virus from the central nervous system (CNS). To determine the roles of IgM and IgG in recovery, we compared the responses of immunoglobulin-deficient activation-induced adenosine deaminase (AID)-/-, secretory IgM (sIgM)-/- and AID-/- sIgM-/- double knock out (DKO) mice with wild-type (WT) C57BL/6 mice for disease, clearance of infectious virus and viral RNA from brain and spinal cord, antibody responses and B cell infiltration into the CNS...
January 10, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29317194/validation-and-evaluation-of-two-porphobilinogen-deaminase-activity-assays-for-diagnosis-of-acute-intermittent-porphyria
#20
Chia-Ni Lin, Ya-Ching Huang, Long-Sun Ro, Ming-Feng Liao, Hsiao-Chen Ning, Hung-Chou Kuo
BACKGROUND: Acute intermittent porphyria (AIP) is caused by diminished activity of porphobilinogen deaminase (PBGD). The purpose of this study was to validate and compare two assays for PBGD activity. The clinical sensitivity of the PBGD activity assays in AIP diagnosis was also evaluated. METHODS: This study included 74 subjects from 18 Taiwanese families including symptomatic patients with AIP, asymptomatic carriers, and healthy family members. The specific mutations in AIP patients were identified by DNA sequencing...
January 6, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
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