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ataxia telangiectasia

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https://www.readbyqxmd.com/read/28929041/severe-late-toxicity-after-adjuvant-breast-radiotherapy-in-a-patient-with-a-germline-ataxia-telangiectasia-mutated-gene-future-treatment-decisions
#1
Maryam Dosani, Kasmintan A Schrader, Alan Nichol, Sophie Sun, Tamara Shenkier, Zoe Lohn, Gudrun Aubertin, Scott Tyldesley
Ataxia telangiectasia mutated (ATM) gene mutations may confer increased sensitivity to ionizing radiation and increased risk of late toxicity for cancer patients. We present the case of a 55-year-old female treated with adjuvant breast and regional nodal radiation following lumpectomy and axillary lymph node dissection for stage II invasive ductal carcinoma of the breast. She developed severe telangiectasia, fibrosis, induration, chest wall pain (with evidence of rib fractures on imaging), and painful limitation in her range of motion at the shoulder...
July 11, 2017: Curēus
https://www.readbyqxmd.com/read/28928376/oligo-fucoidan-prevents-il-6-and-ccl2-production-and-cooperates-with-p53-to-suppress-atm-signaling-and-tumor-progression
#2
Li-Mei Chen, Po-Yen Liu, Yen-An Chen, Hong-Yu Tseng, Pei-Chun Shen, Pai-An Hwang, Hsin-Ling Hsu
Low-molecular-weight Fucoidan (Oligo-Fucoidan) is a sulfated polysaccharide that has a variety of biological effects and has also been shown to have beneficial health effects. However, the molecular mechanisms underlying the therapeutic effects of Oligo-Fucoidan in patients with cancer remain unclear. Using human colorectal cancer HCT116 cells with (p53(+/+)) or without (p53(-/-)) normal p53 expression, we found that Oligo-Fucoidan treatment reduces the occurrence of spontaneous DNA lesions. Etoposide induces double strand DNA breaks...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28916473/down-regulation-of-nox2-activity-in-phagocytes-mediated-by-atm-kinase-dependent-phosphorylation
#3
Sylvain Beaumel, Antoine Picciocchi, Franck Debeurme, Corinne Vives, Anne-Marie Hesse, Myriam Ferro, Didier Grunwald, Heather Stieglitz, Pahk Thepchatri, Susan M E Smith, Franck Fieschi, Marie José Stasia
NADPH oxidases (NOX) have many biological roles, but their regulation to control production of potentially toxic ROS molecules remains unclear. A previously identified insertion sequence of 21 residues (called NIS) influences NOX activity, and its predicted flexibility makes it a good candidate for providing a dynamic switch controlling the NOX active site. We constructed NOX2 chimeras in which NIS had been deleted or exchanged with those from other NOXs (NIS1, 3 and 4). All contained functional heme and were expressed normally at the plasma membrane of differentiated PLB-985 cells...
September 12, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28898322/-new-mutation-in-atm-gen-in-patient-whith-ataxia-telangiectasia-clinical-case
#4
Felipe Ruiz-Botero, Juliet T Rodríguez-Guerrero
INTRODUCTION: The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes in the cell cycle, DNA repair and apoptosis. The objective of this article is to report the case of a patient with ataxia telangiectasia syndrome, caused by a mutation not previously reported in the literature...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28895705/-complete-heart-block-and-asystole-in-a-child-with-ataxia-telangiectasia
#5
Daniel Palanca Arias, Ariadna Ayerza Casas, Mercedes Domínguez Cajal, Marta López Ramón, Lorenzo Jiménez Montañés
Ataxia-telangiectasia is a disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased predisposition to cancer susceptibility. Mutations in the ataxia telangiectasia mutated gene seem to play an important role in normal cell function and in cardiovascular remodeling. We report a case of a 14-year-old boy with ataxia-telangiectasia and high-grade B-non-Hodgkin lymphoma who remained in continuous complete remission after chemotherapy and who was admitted into our Emergency Room presenting with episodes of presyncope...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28894253/atm-deficiency-increases-genomic-instability-and-metastatic-potential-in-a-mouse-model-of-pancreatic-cancer
#6
Yiannis Drosos, David Escobar, Ming-Yi Chiang, Kathryn Roys, Virginia Valentine, Marc B Valentine, Jerold E Rehg, Vaibhav Sahai, Lesa A Begley, Jianming Ye, Leena Paul, Peter J McKinnon, Beatriz Sosa-Pineda
Germline mutations in ATM (encoding the DNA-damage signaling kinase, ataxia-telangiectasia-mutated) increase Familial Pancreatic Cancer (FPC) susceptibility, and ATM somatic mutations have been identified in resected human pancreatic tumors. Here we investigated how Atm contributes to pancreatic cancer by deleting this gene in a murine model of the disease expressing oncogenic Kras (Kras(G12D)). We show that partial or total ATM deficiency cooperates with Kras(G12D) to promote highly metastatic pancreatic cancer...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28894083/ataxia-telangiectasia-mutated-atm-protein-signaling-participates-in-development-of-pulmonary-arterial-hypertension-in-rats
#7
Fan Hu, Caijun Liu, Hanmin Liu, Liang Xie, Li Yu
BACKGROUND Previous studies revealed physiological and pathogenetic similarity between vascular smooth muscles cells with severe pulmonary arterial hypertension and tumors. The DNA damage response was found in both pulmonary arterial hypertension (PAH) cells and tumors. The ataxia-telangiectasia mutated proteins (ATM) pathway is considered an important factor in the DNA damage response of tumor formation, but its function in the development of PAH remains unknown. MATERIAL AND METHODS The Sprague-Dawley rat PAH model was established...
September 12, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28893936/take-your-pikk-tumour-viruses-and-dna-damage-response-pathways
#8
REVIEW
Neha J Pancholi, Alexander M Price, Matthew D Weitzman
Viruses regulate cellular processes to facilitate viral replication. Manipulation of nuclear proteins and pathways by nuclear replicating viruses often causes cellular genome instability that contributes to transformation. The cellular DNA damage response (DDR) safeguards the host to maintain genome integrity, but DNA tumour viruses can manipulate the DDR to promote viral propagation. In this review, we describe the interactions of DNA tumour viruses with the phosphatidylinositol 3-kinase-like protein kinase (PIKK) pathways, which are central regulatory arms of the DDR...
October 19, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28888173/lc-ms-ms-assay-for-the-quantitation-of-the-atr-kinase-inhibitor-vx-970-in-human-plasma
#9
Brian F Kiesel, Jonas Scemama, Robert A Parise, Liza Villaruz, Andre Iffland, Austin Doyle, Percy Ivy, Edward Chu, Christopher J Bakkenist, Jan H Beumer
DNA damaging chemotherapy and radiation are widely used standard-of-care modalities for the treatment of cancer. Nevertheless, the outcome for many patients remains poor and this may be attributed, at least in part, to highly effective DNA repair mechanisms. Ataxia-telangiectasia mutated and Rad3-related (ATR) is a key regulator of the DNA-damage response (DDR) that orchestrates the repair of damaged replication forks. ATR is a serine/threonine protein kinase and ATR kinase inhibitors potentiate chemotherapy and radiation...
August 31, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28858227/the-role-of-palb2-in-the-dna-damage-response-and-cancer-predisposition
#10
REVIEW
Thales C Nepomuceno, Giuliana De Gregoriis, Francisco M Bastos de Oliveira, Guilherme Suarez-Kurtz, Alvaro N Monteiro, Marcelo A Carvalho
The deoxyribonucleic acid (DNA) damage response (DDR) is a major feature in the maintenance of genome integrity and in the suppression of tumorigenesis. PALB2 (Partner and Localizer of Breast Cancer 2 (BRCA2)) plays an important role in maintaining genome integrity through its role in the Fanconi anemia (FA) and homologous recombination (HR) DNA repair pathways. Since its identification as a BRCA2 interacting partner, PALB2 has emerged as a pivotal tumor suppressor protein associated to hereditary cancer susceptibility to breast and pancreatic cancers...
August 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28851987/p53-represses-pyrimidine-catabolic-gene-dihydropyrimidine-dehydrogenase-dpyd-expression-in-response-to-thymidylate-synthase-ts-targeting
#11
Prashanth Gokare, Niklas K Finnberg, Phillip H Abbosh, Jenny Dai, Maureen E Murphy, Wafik S El-Deiry
Nucleotide metabolism in cancer cells can influence malignant behavior and intrinsic resistance to therapy. Here we describe p53-dependent control of the rate-limiting enzyme in the pyrimidine catabolic pathway, dihydropyrimidine dehydrogenase (DPYD) and its effect on pharmacokinetics of and response to 5-fluorouracil (5-FU). Using in silico/chromatin-immunoprecipitation (ChIP) analysis we identify a conserved p53 DNA-binding site (p53BS) downstream of the DPYD gene with increased p53 occupancy following 5-FU treatment of cells...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28833137/tert-ezh2-network-regulates-lipid-metabolism-and-dna-damage-responses-in-glioblastoma
#12
Fahim Ahmad, Shruti Patrick, Touseef Sheikh, Vikas Sharma, Pankaj Pathak, Prit Benny Malgulwar, Anupam Kumar, Shanker Datt Joshi, Chitra Sarkar, Ellora Sen
Elevated expression of enhancer of zeste homolog 2 (EZH2) - a histone H3K27 methyltransferase was observed in gliomas harboring telomerase reverse transcriptase (TERT) promoter mutations. Given the known involvement of TERT and EZH2 in glioma progression, the co-relation between the two and subsequently its involvement in metabolic programming was investigated. Inhibition of hTERT either pharmacologically or through genetic manipulation not only decreased EZH2 expression, but also (i) abrogated FASN levels, (ii) decreased de novo fatty acid accumulation, and (iii) increased Ataxia-telangiectasia mutated (ATM) phosphorylation levels...
August 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28820634/in-vivo-and-in-vitro-effects-of-atm-atr-signaling-pathway-on-proliferation-apoptosis-and-radiosensitivity-of-nasopharyngeal-carcinoma-cells
#13
Ming Wang, Gang Liu, Guo-Ping Shan, Bing-Bing Wang
AIM: The study investigated the ability of ataxia-telangiectasia mutated (ATM)/Rad3-related (ATR) signaling pathway to influence the proliferation, apoptosis, and radiosensitivity of nasopharyngeal carcinoma (NPC) cells. MATERIALS AND METHODS: NPC tissues and corresponding adjacent normal tissues were collected from 143 NPC patients. The NPC CNE2 cells were assigned into a control group, X-ray group, CGK-733 group, and X-ray+CGK-733 group. The mRNA levels of ATM and ATR were evaluated using quantitative real-time polymerase chain reaction (qRT-PCR) and the protein levels of ATM and ATR using western blotting...
August 2017: Cancer Biotherapy & Radiopharmaceuticals
https://www.readbyqxmd.com/read/28820495/human-papillomavirus-and-the-dna-damage-response-exploiting-host-repair-pathways-for-viral-replication
#14
REVIEW
Chelsey C Spriggs, Laimonis A Laimins
High-risk human papillomaviruses (HPVs) are the causative agents of cervical and other genital cancers. In addition, HPV infections are associated with the development of many oropharyngeal cancers. HPVs activate and repress a number of host cellular pathways to promote their viral life cycles, including those of the DNA damage response. High-risk HPVs activate the ataxia telangiectasia-mutated (ATM) and ATM and Rad3-related (ATR) DNA damage repair pathways, which are essential for viral replication (particularly differentiation-dependent genome amplification)...
August 18, 2017: Viruses
https://www.readbyqxmd.com/read/28819025/mre11-promotes-tumorigenesis-by-facilitating-resistance-to-oncogene-induced-replication-stress
#15
Elizabeth Spehalski, Kayla M Capper, Cheryl J Smith, Mary J Morgan, Maria Dinkelmann, Jeffrey Buis, JoAnn M Sekiguchi, David O Ferguson
Hypomorphic mutations in the genes encoding the MRE11/RAD50/NBS1 (MRN) DNA repair complex lead to cancer-prone syndromes. MRN binds DNA double strand breaks where it functions in repair and triggers cell cycle checkpoints via activation of the ataxia-telangiectasia mutated (ATM) kinase. To gain understanding of MRN in cancer, we engineered mice with B lymphocytes lacking MRN, or harboring MRN in which MRE11 lacks nuclease activities. Both forms of MRN deficiency led to hallmarks of cancer, including oncogenic translocations involving c-Myc and the immunoglobulin locus...
August 17, 2017: Cancer Research
https://www.readbyqxmd.com/read/28818686/methyleugenol-and-selected-oxidative-metabolites-affect-dna-damage-signalling-pathways-and-induce-apoptosis-in-human-colon-tumour-ht29-cells
#16
Isabel Anna Maria Groh, Melanie Esselen
Previously the food carcinogen methyleugenol was found to be cytotoxic and genotoxic in multiple cell lines and in primary hepatocytes. In this study, the question addressed was whether methyleugenol and the selected oxidative metabolites, 1'-hydroxymethyleugenol, methyleugenol-2',3'-epoxide and 3'-oxomethylisoeugenol trigger a DNA damage response in the human colon carcinoma HT29 cell line. Most notably investigations by flow cytometry revealed that the metabolites induce an accumulation of HT29 cells in the G2 phase of the cell cycle...
August 14, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28811666/the-essential-kinase-atr-ensuring-faithful-duplication-of-a-challenging-genome
#17
REVIEW
Joshua C Saldivar, David Cortez, Karlene A Cimprich
One way to preserve a rare book is to lock it away from all potential sources of damage. Of course, an inaccessible book is also of little use, and the paper and ink will continue to degrade with age in any case. Like a book, the information stored in our DNA needs to be read, but it is also subject to continuous assault and therefore needs to be protected. In this Review, we examine how the replication stress response that is controlled by the kinase ataxia telangiectasia and Rad3-related (ATR) senses and resolves threats to DNA integrity so that the DNA remains available to read in all of our cells...
August 16, 2017: Nature Reviews. Molecular Cell Biology
https://www.readbyqxmd.com/read/28808226/atr-inhibition-facilitates-targeting-of-leukemia-dependence-on-convergent-nucleotide-biosynthetic-pathways
#18
Thuc M Le, Soumya Poddar, Joseph R Capri, Evan R Abt, Woosuk Kim, Liu Wei, Nhu T Uong, Chloe M Cheng, Daniel Braas, Mina Nikanjam, Peter Rix, Daria Merkurjev, Jesse Zaretsky, Harley I Kornblum, Antoni Ribas, Harvey R Herschman, Julian Whitelegge, Kym F Faull, Timothy R Donahue, Johannes Czernin, Caius G Radu
Leukemia cells rely on two nucleotide biosynthetic pathways, de novo and salvage, to produce dNTPs for DNA replication. Here, using metabolomic, proteomic, and phosphoproteomic approaches, we show that inhibition of the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) reduces the output of both de novo and salvage pathways by regulating the activity of their respective rate-limiting enzymes, ribonucleotide reductase (RNR) and deoxycytidine kinase (dCK), via distinct molecular mechanisms...
August 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28806901/polymorphism-rs189037c%C3%A2-%C3%A2-t-in-the-promoter-region-of-the-atm-gene-may-associate-with-reduced-risk-of-t2dm-in-older-adults-in-china-a-case-control-study
#19
Xiang Ding, Qiukui Hao, Ming Yang, Tie Chen, Shanping Chen, Jirong Yue, Sean X Leng, Birong Dong
BACKGROUND: Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the development of insulin resistance and type 2 diabetes mellitus (T2DM). Up to date, little information about the relationship between ATM gene polymorphism and T2DM is available. This study aimed to explore potential association between a genetic variant [single nucleotide polymorphism (SNP), i...
August 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28799829/radiotherapy-induces-cell-cycle-arrest-and-cell-apoptosis-in-nasopharyngeal-carcinoma-via-the-atm-and-smad-pathways
#20
Ming-Yi Li, Jin-Quan Liu, Dong-Ping Chen, Zhou-Yu Li, Bin Qi, Lu He, Yi Yu, Wen-Jin Yin, Meng-Yao Wang, Ling Lin
Nasopharyngeal carcinoma (NPC) is a common malignant neoplasm of the head and neck which is harmful to human's health. Radiotherapy is commonly used in the treatment of NPC and it induces immediate cell cycle arrest and cell apoptosis. However, the mechanism remains unknown. Evidences suggested the activation of Ataxia telangiectasia mutated (ATM) pathway and Smad pathway are two of the important crucial mediators in the function of radiotherapy. In this study, we carried out in vitro assays with human nasopharyngeal carcinoma CNE-2 cells and in vivo assays with nude mice to investigate the role of the ATM and Smad pathways in the treatment of nasopharyngeal carcinoma with radiotherapy...
August 11, 2017: Cancer Biology & Therapy
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