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ataxia telangiectasia mutated

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https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#1
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28627265/atm-radiation-and-the-risk-of-second-primary-breast-cancer
#2
Jonine L Bernstein, Patrick Concannon
PURPOSE: It was first suggested more than 40 years ago that heterozygous carriers for the human autosomal recessive disorder Ataxia-Telangiectasia (A-T) might also be at increased risk for cancer. Subsequent studies have identified the responsible gene, Ataxia-Telangiectasia Mutated (ATM), characterized genetic variation at this locus in A-T and a variety of different cancers, and described the functions of the ATM protein with respect to cellular DNA damage responses. However, an overall model of how ATM contributes to cancer risk, and in particular, the role of DNA damage in this process, remains lacking...
June 19, 2017: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/28624372/taming-tricky-dsbs-atm-on-duty
#3
REVIEW
Thomas Clouaire, Aline Marnef, Gaëlle Legube
Ataxia Telangiectasia Mutated (ATM) has been known for decades as the main kinase mediating the DNA Double-Strand Break Response (DDR). Extensive studies have revealed its dual role in locally promoting detection and repair of DSBs as well as in activating global DNA damage checkpoints. However, recent studies pinpoint additional unanticipated functions for ATM in modifying both the local chromatin landscape and the global chromosome organization, more particularly at persistent breaks. Given the emergence of a novel and unexpected class of DSBs prevalently arising in transcriptionally active genes and intrinsically difficult to repair, a specific role of ATM at refractory DSBs could be an important and so far overlooked feature of Ataxia Telangiectasia (A-T) a severe disorder associated with ATM mutations...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28613105/rug3-is-a-negative-regulator-of-plant-responses-to-aba-in-arabidopsis-thaliana
#4
Chao Su, Jinhong Yuan, Hongtao Zhao, Yankun Zhao, Hongtao Ji, Youning Wang, Xia Li
Mitochondria is a main target of various stressors. Dysfunction of mitochondria stimulates overproduction of reactive oxygen species (ROS), which can cause oxidative damage to mitochondria and DNA. Recently, we demonstrated that RCC1/UVR8/GEF-like 3 (RUG3), a member of the Regulator of Chromatin Condensation 1 (RCC1) protein family, can directly interact with ataxia telangiectasia mutated (ATM), a key regulator of the DNA damage response (DDR), and synergistically regulates the alternative splicing of mitochondrial nad2...
June 14, 2017: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/28612525/-the-role-of-dna-double-strain-damage-repairing-mechanisms-in-diabetic-atheroscolersis
#5
Li Zeng, Qun-Fang Ding, Ting-Yuan Xu, Fang Luo, Ning Ge, Shi-Tong Li
OBJECTIVES: To identify the role of DNA double-strain damage repairing pathway in the development of diabetics atherosclerosis. METHODS: Wistar male rats were randomly divided into three groups: control group (group A), balloon injury group (group B) and diabetes + balloon injury group (group C). Streptozotocin (STZ) was injected into rat abdomen to induce diabetes. After stabilizing high glucose, rats in group B and group C were both under aortic balloon injury technique and fed high lipid forage post-operatively...
March 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28607003/p21-maintains-senescent-cell-viability-under-persistent-dna-damage-response-by-restraining-jnk-and-caspase-signaling
#6
Reut Yosef, Noam Pilpel, Nurit Papismadov, Hilah Gal, Yossi Ovadya, Ezra Vadai, Stav Miller, Ziv Porat, Shifra Ben-Dor, Valery Krizhanovsky
Cellular senescence is a permanent state of cell cycle arrest that protects the organism from tumorigenesis and regulates tissue integrity upon damage and during tissue remodeling. However, accumulation of senescent cells in tissues during aging contributes to age-related pathologies. A deeper understanding of the mechanisms regulating the viability of senescent cells is therefore required. Here, we show that the CDK inhibitor p21 (CDKN1A) maintains the viability of DNA damage-induced senescent cells. Upon p21 knockdown, senescent cells acquired multiple DNA lesions that activated ataxia telangiectasia mutated (ATM) and nuclear factor (NF)-κB kinase, leading to decreased cell survival...
June 12, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28605880/js-k-a-nitric-oxide-prodrug-induces-dna-damage-and-apoptosis-in-hbv-positive-hepatocellular-carcinoma-hepg2-2-15-cell
#7
Zhengyun Liu, Guangmin Li, Ying Gou, Dongyan Xiao, Guo Luo, Joseph E Saavedra, Jie Liu, Huan Wang
Hepatocellular carcinoma (HCC) is the most important cause of cancer-related death, and 85% of HCC is caused by chronic HBV infection, the prognosis of patients and the reduction of HBV DNA levels remain unsatisfactory. JS-K, a nitric oxide-releasing diazeniumdiolates, is effective against various tumors, but little is known on its effects on HBV positive HCC. We found that JS-K reduced the expression of HBsAg and HBeAg in HBV-positive HepG2.2.15 cells. This study aimed to further examine anti-tumor effects of JS-K on HepG2...
June 8, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28604764/limited-nucleotide-pools-restrict-epstein-barr-virus-mediated-b-cell-immortalization
#8
A Y Hafez, J E Messinger, K McFadden, G Fenyofalvi, C N Shepard, G M Lenzi, B Kim, M A Luftig
Activation of cellular oncogenes as well as infection with tumor viruses can promote aberrant proliferation and activation of the host DNA damage response. Epstein-Barr virus (EBV) infection of primary human B cells induces a transient period of hyper-proliferation, but many of these infected cells succumb to an ataxia telangiectasia mutated/checkpoint kinase 2 (ATM/Chk2)-mediated senescence-like growth arrest. In this study, we assessed the role of DNA replicative stress and nucleotide pool levels in limiting EBV-infected B-cell outgrowth...
June 12, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28602099/zerumbone-regulates-dna-repair-responding-to-ionizing-radiation-and-enhances-radiosensitivity-of-human-prostatic-cancer-cells
#9
Pai-Kai Chiang, Wei-Kung Tsai, Marcelo Chen, Wun-Rong Lin, Yung-Chiong Chow, Chih-Chiao Lee, Jong-Ming Hsu, Yu-Jen Chen
INTRODUCTION: Radiation therapy using ionizing radiation is widely used for the treatment of prostate cancer. The intrinsic radiation sensitivity of cancer cells could be enhanced by modulating multiple factors including the capacity to repair DNA damage, especially double-strand breaks (DSBs). We aimed to examine the effect of zerumbone on radiation sensitivity and its protective effects against ionizing radiation-induced DSB in human prostate cancer cells. MATERIALS AND METHODS: The human prostate cancer PC3 and DU145 cell lines were used...
June 1, 2017: Integrative Cancer Therapies
https://www.readbyqxmd.com/read/28596805/ataxia-telangiectasia-patients-get-a-rare-chance-to-meet-the-experts-at-a-dedicated-workshop-in-ifom-the-firc-institute-of-molecular-oncology
#10
EDITORIAL
Linda Cairns
Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name.
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28591941/-study-on-the-effect-of-overexpression-of-mir-18a-on-cellular-proliferation-and-migration-by-targeting-atm-in-human-colorectal-cancer-cells
#11
Ming-Jia Liu, Li-Hong Chen, Kai-Feng Hu, Xiao-Long Yang, Jing-Ying Dong, Ji Liu
OBJECTIVES: To study the regulation to colon cancer cellular biological properties through miR-18a targeting ataxia-telangiectasia mutated gene (ATM). METHODS: A target of miR-18a was predicted by using bioinformatics tools. The miR-18a mimics and inhibitors were designed and synthesized. The expression of endogenous miR-18a in colon cancer cell line HCT116 was up-regulated or down-regulated by transfection. The effect of overexpression of miR-18a on cellular proliferation, invasion and migration via regulation of ATM gene expression was confirmed in vitro by using qRT-PCR, Western blot, MTT assay, clone forming assay and Transwell method, respectively...
July 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28586028/atm-mediates-dab2ip-deficient-bladder-cancer-cell-resistance-to-ionizing-radiation-through-the-p38mapk-and-nf-%C3%AE%C2%BAb-signaling-pathway
#12
Hui He, Rulve Chang, Tingting Zhang, Chen Yang, Zhaolu Kong
Although surgery remains the standard therapy for the treatment of bladder cancer (BCa), the data from previous clinical studies suggest that there is an increase in the number of patients with a preference for bladder preservation strategies, including radiotherapy, to improve their life quality. Our preliminary results showed that disabled homolog 2 interactive protein (DAB2IP), a putative tumor suppressor gene, is often downregulated in BCa with a radioresistant phenotype. Subsequent investigations revealed that elevated expression of ataxia‑telangiectasia mutated (ATM) induced by DAB2IP‑knockdown may be the key event in BCa cell resistance to ionizing radiation (IR)...
June 6, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28580318/targeting-ongoing-dna-damage-in-multiple-myeloma-effects-of-dna-damage-response-inhibitors-on-plasma-cell-survival
#13
Ana Belén Herrero, Norma Carmen Gutiérrez
Human myeloma cell lines (HMCLs) and a subset of myeloma patients with poor prognosis exhibit high levels of replication stress (RS), leading to DNA damage. In this study, we confirmed the presence of DNA double-strand breaks (DSBs) in several HMCLs by measuring γH2AX and RAD51 foci and analyzed the effect of various inhibitors of the DNA damage response on MM cell survival. Inhibition of ataxia telangiectasia and Rad3-related protein (ATR), the main kinase mediating the response to RS, using the specific inhibitor VE-821 induced more cell death in HMCLs than in control lymphoblastoid cells and U266, an HMCL with a low level of DNA damage...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28574504/nox2-dependent-atm-kinase-activation-dictates-pro-inflammatory-macrophage-phenotype-and-improves-effectiveness-to-radiation-therapy
#14
Qiuji Wu, Awatef Allouch, Audrey Paoletti, Celine Leteur, Celine Mirjolet, Isabelle Martins, Laurent Voisin, Frédéric Law, Haithem Dakhli, Elodie Mintet, Maxime Thoreau, Zeinaf Muradova, Mélanie Gauthier, Olivier Caron, Fabien Milliat, David M Ojcius, Filippo Rosselli, Eric Solary, Nazanine Modjtahedi, Eric Deutsch, Jean-Luc Perfettini
Although tumor-associated macrophages have been extensively studied in the control of response to radiotherapy, the molecular mechanisms involved in the ionizing radiation-mediated activation of macrophages remain elusive. Here we show that ionizing radiation induces the expression of interferon regulatory factor 5 (IRF5) promoting thus macrophage activation toward a pro-inflammatory phenotype. We reveal that the activation of the ataxia telangiectasia mutated (ATM) kinase is required for ionizing radiation-elicited macrophage activation, but also for macrophage reprogramming after treatments with γ-interferon, lipopolysaccharide or chemotherapeutic agent (such as cisplatin), underscoring the fact that the kinase ATM plays a central role during macrophage phenotypic switching toward a pro-inflammatory phenotype through the regulation of mRNA level and post-translational modifications of IRF5...
June 2, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28565765/pravastatin-reduces-radiation-induced-damage-in-normal-tissues
#15
Hiroshi Doi, Seiji Matsumoto, Soichi Odawara, Toshiyuki Shikata, Kazuhiro Kitajima, Masao Tanooka, Yasuhiro Takada, Tohru Tsujimura, Norihiko Kamikonya, Shozo Hirota
Pravastatin is an inhibitor of 3-hydroxy-3-methyl- glutaryl-coenzyme A reductase that has been reported to have therapeutic applications in a range of inflammatory conditions. The aim of the present study was to assess the radioprotective effects of pravastatin in an experimental animal model. Mice were divided into two groups: The control group received ionizing radiation with no prior medication, while the pravastatin group received pravastatin prior to ionizing radiation. Pravastatin was administered orally at 30 mg/kg body weight in drinking water at 24 and 4 h before irradiation...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28560406/silencing-of-atm-expression-by-sirna-technique-contributes-to-glioma-stem-cell-radiosensitivity-in-vitro-and-in-vivo
#16
Yan Li, Luchun Li, Zhijuan Wu, Lulu Wang, Yongzhong Wu, Dairong Li, Uiwen Ma, Jianghe Shao, Huiqing Yu, Donglin Wang
Evidence has shown that both high expression of the ataxia-telangiectasia mutated (ATM) gene and glioma stem cells (GSCs) are responsible for radioresistance in glioma. Thus, we hypothesized that brain tumor radiosensitivity may be enhanced via silencing of the ATM gene in GSCs. In the present study we successfully induced GSCs from two cell lines and used CD133 and nestin to identify GSCs. A lentivirus was used to deliver siRNA-ATMPuro (A group) to GSCs prior to radiation, while siRNA-HKPuro (N group) and GSCs (C group) were used as negative and blank controls, respectively...
May 24, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28560404/intermittent-low-dose-irradiation-enhances-the-effectiveness-of-radio-and-chemo-therapy-for-human-colorectal-adenocarcinoma-cell-line-ht-29
#17
Yang Wang, Yezhou Li, Li Yang, Dexin Yin
Low dose irradiation (LDIR) induces hormesis and adaptive response in organism and mammalian cell lines. Notably, LDIR generates distinct biological effects in cancer cells from normal cells, e.g., it may affect the growth of cancer cells via the activation of certain cell signaling pathway, which does not exist in normal cells. Therefore, LDIR is considered as a promising assistant method of clinical cancer therapy. In this study, we chose human colorectal adenocarcinoma cell line HT-29 as the experimental model, and investigated the differential biological effects between 250 mGy single dose LDIR and 250 mGy intermittent LDIR pretreatments in high dose irradiation (HDIR) radiotherapy and 5-fluorouracil (5-FU) based chemotherapy...
May 30, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28558031/the-g2-checkpoint-inhibitor-cbp-93872-increases-the-sensitivity-of-colorectal-and-pancreatic-cancer-cells-to-chemotherapy
#18
Tsutomu Iwata, Tairin Uchino, Ayako Koyama, Yoshikazu Johmura, Kenichi Koyama, Takuya Saito, Seiji Ishiguro, Takashi Arikawa, Shunichiro Komatsu, Masahiko Miyachi, Tsuyoshi Sano, Makoto Nakanishi, Midori Shimada
CBP-93872 suppresses maintenance of DNA double-stranded break-induced G2 checkpoint, by inhibiting the pathway between ataxia-telangiectasia mutated (ATM) and ATM- and Rad3-related (ATR) activation. To examine the potential use of CBP-93872 for clinical applications, we analyzed the synergistic effects of platinum-containing drugs, oxaliplatin and cisplatin, pyrimidine antimetabolites, gemcitabine and 5-fluorouracil (5-FU), in combination with CBP-93872, on cell lethality in colorectal and pancreatic cancer cell lines...
2017: PloS One
https://www.readbyqxmd.com/read/28550350/recent-advances-in-the-study-of-immunodeficiency-and-dna-damage-response
#19
REVIEW
Tomohiro Morio
DNA breaks can be induced by exogenous stimuli or by endogenous stress, but are also generated during recombination of V, D, and J genes (V(D)J recombination), immunoglobulin class switch recombination (CSR). Among various DNA breaks generated, DNA double strand break (DSB) is the most deleterious one. DNA damage response (DDR) is initiated when DSBs are detected, leading to DNA break repair by non-homologous end joining (NHEJ). The process is critically important for the generation of diversity for foreign antigens; and failure to exert DNA repair leads to immunodeficiency such as severe combined immunodeficiency and hyper-IgM syndrome...
May 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28544233/bcl6-overexpression-alters-gene-expression-profile-in-a-myeloma-cell-line-and-is-associated-with-decreased-dna-damage-response
#20
Kenichi Tahara, Makiko Takizawa, Arito Yamane, Yohei Osaki, Takuma Ishizaki, Takeki Mitsui, Akihiko Yokohama, Takayuki Saitoh, Norifumi Tsukamoto, Morio Matsumoto, Hirokazu Murakami, Yoshihisa Nojima, Hiroshi Handa
BCL6 attenuates DNA damage response (DDR) through gene repression and facilitates tolerance to genomic instability during immunoglobulin affinity maturation in germinal center (GC) B cells. Although BCL6 expression is repressed through normal differentiation of GC B cells into plasma cells, a recent study showed the ectopic expression of BCL6 in primary multiple myeloma (MM) cells. However, the functional roles of BCL6 in MM cells are largely unknown. Here, we report that overexpression of BCL6 in a MM cell line, KMS12PE, induced transcriptional repression of ataxia telangiectasia mutated (ATM), a DDR signaling kinase, which was associated with a reduction in γH2AX formation after DNA damage...
May 23, 2017: Cancer Science
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