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    Genetic testing for hereditary prostate cancer: Current status and limitations.
    Cancer 2018 Apr 18. Epub 2018 Apr 18.
    Department of Urology, Yale School of Medicine, New Haven, Connecticut.
    A significant proportion of prostate cancer diagnoses may be associated with a strong hereditary component. Men who have multiple single-gene polymorphisms and a family history of prostate cancer have a significantly greater risk of developing prostate cancer. Numerous single-gene alterations have been confirmed to increase the risk of prostate cancer. Read More

    Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
    Breast Cancer Res 2018 Apr 17;20(1):28. Epub 2018 Apr 17.
    INSERM, U900, Paris, France.
    Background: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management.

    Methods: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours. Read More

    A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
    Neurosciences (Riyadh) 2018 Apr;23(2):162-164
    Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail:
    Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. Here, we report a novel stop codon variant, c. Read More

    Ataxia-Telangiectasia Mutated Kinase Deficiency Impairs Autophagic Response Early During Myocardial Infarction.
    Am J Physiol Heart Circ Physiol 2018 Apr 13. Epub 2018 Apr 13.
    Biomedical Sciences, East Tennessee State University, United States.
    Ataxia-telangiectasia mutated kinase (ATM) is activated in response to DNA damage. We have previously shown that ATM plays a critical role in myocyte apoptosis and cardiac remodeling following myocardial infarction (MI). Here, we tested the hypothesis that ATM deficiency results in autophagic impairment in the heart early during MI. Read More

    Insufficiency of DNA repair enzyme ATM promotes naive CD4 T-cell loss in chronic hepatitis C virus infection.
    Cell Discov 2018 10;4:16. Epub 2018 Apr 10.
    1Center of Excellence in Inflammation, Infectious Disease and Immunity, James H Quillen College of Medicine, East Tennessee State University, Johnson City, TN 37614 USA.
    T cells have a crucial role in viral clearance and vaccine response; however, the mechanisms regulating their responses to viral infections or vaccinations remain elusive. In this study, we investigated T-cell homeostasis, apoptosis, DNA damage, and repair machineries in a large cohort of subjects with hepatitis C virus (HCV) infection. We found that naive CD4 T cells in chronically HCV-infected individuals (HCV T cells) were significantly reduced compared with age-matched healthy subjects. Read More

    [Topoisomerase inhibitor upregulates MICA/B expression in breast cancer cells through ATM/ATR and NF-κB pathway].
    Beijing Da Xue Xue Bao Yi Xue Ban 2018 Apr;50(2):318-325
    Department of Hematology,Peking University First Hospital,Beijing 100034, China.
    Objective: To investigate the effects of chemotherapeutic agents widely used in clinical practice on major histocompatibility complex class I-related chain A and B (MICA/B) expression in breast cancer cells, and to explore the molecular mechanisms involved.

    Methods: We examined MICA/B mRNA and surface protein expressions in breast cancer cells treated with chemotherapeutic agents by real-time RT-PCR and flow cytometry respectively. The blocking effects of ataxia telangiectasia mutated and Rad3-related kinase (ATM/ATR) inhibitor caffeine and nuclear factor κB (NF-κB) inhibitor pynolidine dithiocarbamate (PDTC) on etoposide-upregulated MICA/B mRNA and surface protein expressions were investigated. Read More

    Assessing cardiovascular risk in ATM heterozygotes.
    Rev Assoc Med Bras (1992) 2018 Feb;64(2):148-153
    Pediatrics Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    Objective: To evaluate the carotid intima-media complex (CIMC) thickness and lipid metabolism biomarkers associated with cardiovascular risk (CR) in parents of patients with ataxia-telangiectasia and verify an association with gender.

    Method: A cross-sectional and controlled study with 29 ATM heterozygotes and 14 healthy controls. Biochemical tests and CIMC thickness measurement were performed. Read More

    A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
    J Pediatr Hematol Oncol 2018 Apr 3. Epub 2018 Apr 3.
    Department of Pediatric Allergy and Immunology, Faculty of Medicine, Ondokuz Mayis University, Samsun.
    Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. Read More

    Inhibition of DNA‑PK activity sensitizes A549 cells to X‑ray irradiation by inducing the ATM‑dependent DNA damage response.
    Mol Med Rep 2018 Mar 29. Epub 2018 Mar 29.
    College of Food Science and Technology, Bohai University, Jinzhou, Liaoning 121013, P.R. China.
    Non‑small cell lung cancer (NSCLC) is radioresistant to X‑rays due to powerful cellular DNA damage repair mechanisms. DNA‑dependent protein kinase (DNA‑PK) is a key enzyme involved in DNA damage repair and the phenomenon and molecular mechanism of NSCLC radionsensitivity were investigated following inhibition of DNA‑PK activity. In the present study A549 cells were treated with the DNA‑PK inhibitor NU7026 and/or siRNA directed against ataxia telangiectasia mutated (ATM), followed by exposure to 4 Gy X‑ray irradiation. Read More

    Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra.
    Front Oncol 2018 16;8:73. Epub 2018 Mar 16.
    Department of Biology, University of Rome "Tor Vergata", Rome, Italy.
    Ataxia-telangiectasia mutated kinase (ATM) plays a central role in the DNA damage response (DDR) and mutations in its gene lead to the development of a rare autosomic genetic disorder, ataxia telangiectasia (A-T) characterized by neurodegeneration, premature aging, defects in the immune response, and higher incidence of lymphoma development. The ability of ATM to control genome stability several pointed to ATM as tumor suppressor gene. Growing evidence clearly support a significant role of ATM, in addition to its master ability to control the DDR, as principle modulator of oxidative stress response and mitochondrial homeostasis, as well as in the regulation of autophagy, hypoxia, and cancer stem cell survival. Read More

    Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.
    PLoS One 2018 2;13(4):e0195388. Epub 2018 Apr 2.
    Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
    Ataxia telangiectasia (A-T) is an incurable and rare hereditary syndrome. In recent times, treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this condition, but the molecular mechanism of action of these analogues remains unknown. Hence, the aim of this study was to gain insight into the molecular mechanism of action of glucocorticoid analogues in the treatment of A-T by investigating the role of Dexamethasone (Dexa) in A-T lymphoblastoid cell lines. Read More

    Quercetin enhances stress resistance in mutant cells to different stressors.
    J Food Sci Technol 2018 Apr 19;55(4):1455-1466. Epub 2018 Feb 19.
    Department of Biochemistry and Molecular Biology, Pondicherry University, Pondicherry, 605 014 India.
    The gene is an ortholog of the human () gene. mutant () lacking Tel1p, share some of the cellular defects with mutation that includes prevention of oxidative damage repair, premature aging and apoptosis. In the present study, we investigated the protective effects of quercetin on the sensitivity of yeast cells exposed to oxidative, apoptotic and DNA damaging stress and viability of cells during chronological aging. Read More

    Nuclear factor-like factor 2-antioxidant activation through the action of ataxia telangiectasia-mutated serine/threonine kinase is essential to counteract oxidative stress in bovine mammary epithelial cells.
    J Dairy Sci 2018 Mar 28. Epub 2018 Mar 28.
    Department of Animal Sciences, Division of Nutritional Sciences, University of Illinois, Urbana 61801. Electronic address:
    Nuclear factor (erythroid-derived 2)-like factor 2 (NFE2L2, formerly Nrf2) is a transcription factor that binds to the antioxidant response element (ARE) in the upstream promoter region of various antioxidant-responsive genes. Hence, at least in nonruminants, the NFE2L2-ARE signaling pathway plays an important role in the cellular antioxidant defense system. Whether oxidative stress in bovine mammary epithelial cells alters NFE2L2 or the NFE2L2-ARE pathway is unclear. Read More

    Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.
    Neurol Genet 2018 Apr 27;4(2):e228. Epub 2018 Mar 27.
    Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome "La Sapienza"; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino "Carlo Bo," Italy.
    Objective: Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course. Read More

    Racial Disparities in the Molecular Landscape of Cancer.
    Anticancer Res 2018 04;38(4):2235-2240
    West Cancer Center, Division of Hematology and Oncology, Department of Medicine, University of Tennessee, Memphis, TN, U.S.A.
    Background/aim: African Americans (AA) have the highest incidence and mortality of any racial/ethnic group in the US for most cancer types. Heterogeneity in the molecular biology of cancer, as a contributing factor to this disparity, is poorly understood. To address this gap in knowledge, we explored the molecular landscape of colorectal cancer (CRC), non-small cell lung cancer (NSCLC) and high-grade glioma (HGG) from 271 AA and 636 Caucasian (CC) cases. Read More

    Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites.
    PLoS Genet 2018 Mar 28;14(3):e1007277. Epub 2018 Mar 28.
    Research Center for Radiation Emergency Medicine, National Institute of Radiological Sciences (NIRS), Anagawa, Inage-ku, Chiba, Japan.
    The p300 and CBP histone acetyltransferases are recruited to DNA double-strand break (DSB) sites where they induce histone acetylation, thereby influencing the chromatin structure and DNA repair process. Whether p300/CBP at DSB sites also acetylate non-histone proteins, and how their acetylation affects DSB repair, remain unknown. Here we show that p300/CBP acetylate RAD52, a human homologous recombination (HR) DNA repair protein, at DSB sites. Read More

    Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?
    Inflamm Res 2018 Mar 26. Epub 2018 Mar 26.
    Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Science, 62 Qarib St., Keshavarz Blvd., Tehran, 14194, Iran.
    Introduction: Ataxia-Telangiectasia (A-T) syndrome is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, chromosome instability, radiosensitivity, and predisposition to malignancy. There is growing evidence that A-T patients suffer from pathologic inflammation that is responsible for many symptoms of this syndrome, including neurodegeneration, autoimmunity, cardiovascular disease, accelerated aging, and insulin resistance. In addition, epidemiological studies have shown A-T heterozygotes, somewhat like deficient patients, are susceptible to ionizing irradiation and have a higher risk of cancers and metabolic disorders. Read More

    ATM‑JAK‑PD‑L1 signaling pathway inhibition decreases EMT and metastasis of androgen‑independent prostate cancer.
    Mol Med Rep 2018 May 20;17(5):7045-7054. Epub 2018 Mar 20.
    Department of Urology, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, P.R. China.
    Castration-resistant prostate cancer (CRPC), also known as androgen-independent prostate cancer, frequently develops local and distant metastases, the underlying mechanisms of which remain undetermined. In the present study, surgical specimens obtained from patients with clinical prostate cancer were investigated, and it was revealed that the expression levels of ataxia telangiectasia mutated kinase (ATM) were significantly enhanced in prostate cancer tissues isolated from patients with CRPC compared with from patients with hormone‑dependent prostate cancer. CRPC C4‑2 and CWR22Rv1 cells lines were subsequently selected to establish prostate cancer models, and ATM knockout cells were established via lentivirus infection. Read More

    Genes, Proteins, and Biological Pathways Preventing Chromothripsis.
    Methods Mol Biol 2018 ;1769:231-251
    Department of Human Genetics, University of Würzburg, Würzburg, Germany.
    The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis. Read More

    Bioinformatics Based Therapeutic Effects of Sinomenium Acutum.
    Chin J Integr Med 2018 Mar 21. Epub 2018 Mar 21.
    Faculty of Chinese Medicine, Macau University of Science and Technology, Macau, 999078, China.
    Objective: To decipher the possible mechanisms of Sinomenium Acutum (SA) in treating diseases by a bioinformatics method.

    Methods: SA ingredients were searched according to Chinese Pharmacopoeia, Chinese Medicine Dictionary and Traditional Chinese Medicines Database (TCMD). Active compounds and target proteins of SA were acquired through the Pubchem platform. Read More

    ATM inhibition prevents interleukin-6 from contributing to the proliferation of glioblastoma cells after ionizing radiation.
    J Neurooncol 2018 Mar 21. Epub 2018 Mar 21.
    Translational Brain Cancer Research Laboratory, Cell and Molecular Biology Department, QIMR Berghofer MRI, 300 Herston Rd, Brisbane, QLD, 4006, Australia.
    Glioblastoma (GBM) is a highly fatal disease with a 5 year survival rate of less than 22%. One of the most effective treatment regimens to date is the use of radiotherapy which induces lethal DNA double-strand breaks to prevent tumour growth. However, recurrence occurs in the majority of patients and is in-part a result of robust radioresistance mechanisms. Read More

    Anti-proliferative effect of isorhamnetin on HeLa cells through inducing G2/M cell cycle arrest.
    Exp Ther Med 2018 Apr 26;15(4):3917-3923. Epub 2018 Feb 26.
    College of Food Science and Engineering, Gansu Agricultural University, Lanzhou, Gansu 730070, P.R. China.
    As a major cancer type in females, cervical cancer has been explored in depth by researchers. HeLa is a cervical cancer cell line. Isorhamnetin is an O-methylated flavonol that is primarily extracted from sea buckthorn. Read More

    The Colibactin Genotoxin Generates DNA Interstrand Cross-Links in Infected Cells.
    MBio 2018 Mar 20;9(2). Epub 2018 Mar 20.
    IRSD, Université de Toulouse, INSERM, INRA, ENVT, UPS, Toulouse, France
    Colibactins are hybrid polyketide-nonribosomal peptides produced by , , and other harboring the genomic island. These genotoxic metabolites are produced by -encoded peptide-polyketide synthases as inactive prodrugs called precolibactins, which are then converted to colibactins by deacylation for DNA-damaging effects. Colibactins are bona fide virulence factors and are suspected of promoting colorectal carcinogenesis when produced by intestinal Natural active colibactins have not been isolated, and how they induce DNA damage in the eukaryotic host cell is poorly characterized. Read More

    Identification and preclinical evaluation of the small molecule, NSC745887, for treating glioblastomas via suppressing DcR3-associated signaling pathways.
    Oncotarget 2018 Feb 27;9(15):11922-11937. Epub 2017 Dec 27.
    Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan, ROC.
    The small-molecule naphtha [2,3-f]quinoxaline-7,12-dione (NSC745887) can effectively inhibit the proliferation of various cancers by trapping DNA-topoisomerase cleavage. The aim of this study was to elucidate cellular responses of NSC745887 in human glioblastoma multiforme (GBM, U118MG and U87MG cells) and investigate the underlying molecular mechanisms. NSC745887 reduced the cell survival rate and increased the sub-G population in dose- and time-dependent manners in GBM cells. Read More

    LMTK3 confers chemo-resistance in breast cancer.
    Oncogene 2018 Mar 15. Epub 2018 Mar 15.
    School of Life Sciences, Department of Biochemistry and Biomedicine, University of Sussex, Brighton, BN1 9QG, UK.
    Lemur tyrosine kinase 3 (LMTK3) is an oncogenic kinase that is involved in different types of cancer (breast, lung, gastric, colorectal) and biological processes including proliferation, invasion, migration, chromatin remodeling as well as innate and acquired endocrine resistance. However, the role of LMTK3 in response to cytotoxic chemotherapy has not been investigated thus far. Using both 2D and 3D tissue culture models, we found that overexpression of LMTK3 decreased the sensitivity of breast cancer cell lines to cytotoxic (doxorubicin) treatment. Read More

    [Clinicopathologic characteristics of Burkitt-like lymphoma with chromosome 11q aberration].
    Zhonghua Bing Li Xue Za Zhi 2018 Mar;47(3):176-179
    Department of Pathology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
    To analyze clinical, pathological, molecular and genetic characteristics of Burkitt-like lymphoma with chromosome 11q aberration. A case of Burkitt-like lymphoma with 11q aberration was presented at Beijing Friendship Hospital in November 2016 with detailed clinicopathological features, immunophenotypes, Epstein-Barr virus(EBV) status and molecular genetic characteristics. The patient was a 38-year-old man presenting with the cervical lymphadenopathy. Read More

    Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology.
    J Radiat Res 2018 Mar 8. Epub 2018 Mar 8.
    Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Kasumi 1-2-3, Minami-ku, Hiroshima 734-8553, Japan.
    DNA double-strand breaks (DSBs) induced by ionizing radiation (IR) are the initial and critical step in major alteration of genetic information and cell death. To prevent deleterious effects, DNA repair systems recognize and re-join DNA DSBs in human cells. It has been suggested that there are individual differences in radiosensitivity within human populations, and that variations in DNA repair genes might contribute to this heterogeneity. Read More

    Isoorientin triggers apoptosis of hepatoblastoma by inducing DNA double-strand breaks and suppressing homologous recombination repair.
    Biomed Pharmacother 2018 May 22;101:719-728. Epub 2018 Mar 22.
    Department of Clinical Laboratory Medicine, Guangdong General Hospital, Guangzhou, Guangdong, 510030, China. Electronic address:
    Hepatoblastoma (HB) is the most common malignant liver tumor in children. DNA and DNA-associated processes are one of the most important targets of chemotherapeutic agents. Isoorientin (Iso), a natural flavonoid compound, can be extracted from several plant species. Read More

    The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.
    Ir J Med Sci 2018 Mar 9. Epub 2018 Mar 9.
    Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles Street, Dublin, Ireland.
    Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. Read More

    Pentose phosphate pathway activation via HSP27 phosphorylation by ATM kinase: A putative endogenous antioxidant defense mechanism during cerebral ischemia-reperfusion.
    Brain Res 2018 May 3;1687:82-94. Epub 2018 Mar 3.
    Department of Neurosurgery, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
    Molecular mechanism underlying ischemic stroke remains poorly understood. We previously reported glucose 6-phosphate dehydrogenase (G6PD) activity in pentose phosphate pathway (PPP) is activated via heat shock protein 27 (HSP27) phosphorylation at serine 85 (S85) by ataxia telangiectasia mutated (ATM) kinase during cerebral ischemia. This mechanism seems to be endogenous antioxidative system. Read More

    The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
    J Natl Cancer Inst 2018 Feb 28. Epub 2018 Feb 28.
    QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia (NW, GCT).
    Pathogenic germline variants in ataxia-telangiectasia mutated (ATM), a gene that plays a role in DNA damage response and cell cycle checkpoints, confer an increased breast cancer (BC) risk. Here, we investigated the phenotypic characteristics and landscape of somatic genetic alterations in 24 BCs from ATM germline mutation carriers by whole-exome and targeted sequencing. ATM-associated BCs were consistently hormone receptor positive and largely displayed minimal immune infiltrate. Read More

    Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.
    Immunogenetics 2018 Feb 28. Epub 2018 Feb 28.
    Research Department, Immunology Laboratory, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Settlement of Borovlyany, 223053, Minsk region, Belarus.
    Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio-sensitivity, and a predisposition to malignancy. We present the case of a child with coexistent AT and trisomy X (47,XXX). We used fluorescent in situ hybridization (FISH) to confirm that this person had 47,XXX karyotype in blood cells, bone marrow, fibroblasts, and buccal smear. Read More

    The Cell Cycle Checkpoint Regulator ATR Is Required for Internal Aluminum Toxicity-Mediated Root Growth Inhibition in .
    Front Plant Sci 2018 14;9:118. Epub 2018 Feb 14.
    College of Resources and Environmental Sciences, Nanjing Agricultural University, Nanjing, China.
    Aluminum (Al) can target multiple sites of root cells for toxicity, including the cell wall, the plasma membrane and symplastic components. Previous work revealed that the cell cycle checkpoint regulator (ATR) Ataxia Telangiectasia-mutated and Rad3-related is required for Al toxicity-induced root growth inhibition in and that the symplastic component DNA is an important target site of Al for the toxicity. However, whether monitoring DNA integrity through ATR-regulated pathway is required for Al-induced root growth inhibition in other Al-sensitive mutants remains unknown. Read More

    An Exploratory Study of Radiation Dermatitis in Breast Cancer Patients.
    Anticancer Res 2018 03;38(3):1615-1622
    Department of Radiation Oncology, University of Patras Medical School, Patras, Greece
    Background/aim: Radiation dermatitis is observed in 95% of breast cancer patients receiving radiotherapy. The aim of this study was to explore the correlation between protein expression in tumor cells and the risk of developing radiation dermatitis.

    Patients And Methods: Breast cancer patients receiving postoperative radiotherapy were included in this study. Read More

    Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.
    Eur J Neurol 2018 Feb 28. Epub 2018 Feb 28.
    Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples, Naples, Italy.
    Background And Purpose: Ataxia-telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life. Successful treatment options are still not available. Read More

    Coralyne, a protoberberine alkaloid, causes robust photosenstization of cancer cells through ATR-p38 MAPK-BAX and JAK2-STAT1-BAX pathways.
    Chem Biol Interact 2018 Apr 24;285:27-39. Epub 2018 Feb 24.
    Bio-Organic Division, Bhabha Atomic Research Centre, Mumbai 400085, India; Homi Bhabha National Institute, Training School Complex, Anushakti Nagar, Mumbai 400094, India.
    Photodynamic therapy (PDT) provides an effective cancer treatment option but it requires sufficient cellular oxygen concentration to exert its photosensitizing effects. Due to hypoxic nature of most tumors, widespread clinical application of PDT is restricted and warrants development of photosensitizers which can kill cancer cells in ROS independent manner. Previously, we reported significant enhancement of the anti-cancer property of coralyne in presence of ultraviolet-A (UVA) light exposure against several human carcinoma cell lines. Read More

    Cerebrospinal fluid γδ T cell frequency is age-related: a case-control study of 435 children with inflammatory and non-inflammatory neurological disorders.
    Clin Exp Immunol 2018 Feb 27. Epub 2018 Feb 27.
    National Pediatric Myoclonus Center, Orlando, FL, USA.
    Studies of cerebrospinal fluid (CSF) γδ T cells in children are limited, due especially to the lack of control data. In adults, gamma/delta T cells (TCR-γδ) residing in the intrathecal space are sometimes involved in neuroinflammation. To evaluate the possible role of γδ T cells in paediatric neuroinflammation, we immunophenotyped cerebrospinal fluid (CSF) and blood lymphocytes using flow cytometry in a case-control study of 100 children with non-inflammatory neurological disorders (NIND), 312 with opsoclonus-myoclonus (OMS) and 23 with other inflammatory neurological disorders (OIND). Read More

    Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency.
    Cent Eur J Immunol 2017 30;42(4):336-341. Epub 2017 Dec 30.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
    Introduction: Primary immunodeficiency diseases (PIDs) are a heterogeneous group of genetic immune disorders. PID patients suffer from a variety of complications. The aim of this study was to determine the infectious and non-infectious complications among PID patients. Read More

    Ataxia-Telangiectasia Mutated (ATM) Kinase Regulates eNOS Expression and Modulates Radiosensitivity in Endothelial Cells Exposed to Ionizing Radiation.
    Radiat Res 2018 Feb 23. Epub 2018 Feb 23.
    a Department of Radiology, The Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire 03756.
    Endothelial nitric oxide synthase (eNOS), a constitutive enzyme expressed in vascular endothelial cells, is the main source of nitric oxide (NO), which plays key roles in diverse biological functions, including regulation of vascular tone. Exposure to radiation has been known to generate nitric oxide from eNOS; however, the precise mechanism of its generation and function is not known. The goal of this study was to determine the involvement of radiation-induced DNA damage response (DDR) on eNOS transcription and its effect on cell survival after irradiation. Read More

    Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.
    Cell Death Dis 2018 Feb 22;9(3):314. Epub 2018 Feb 22.
    Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University, Rome, Italy.
    Hereditary deficiencies in DNA damage signaling are invariably associated with cancer predisposition, immunodeficiency, radiation sensitivity, gonadal abnormalities, premature aging, and tissue degeneration. ATM kinase has been established as a central player in DNA double-strand break repair and its deficiency causes ataxia telangiectasia, a rare, multi-system disease with no cure. So ATM represents a highly attractive target for the development of novel types of gene therapy or transplantation strategies. Read More

    DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice.
    Cell Death Dis 2018 Feb 22;9(3):310. Epub 2018 Feb 22.
    Research Laboratory of Ophthalmology and Vision Sciences, Torsten-Wiesel Research Institute of World Eye Organization, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 610041, Chengdu, China.
    Retinitis pigmentosa (RP) is a group of inherited retinal degenerative diseases causing progressive loss of photoreceptors. Numerous gene mutations are identified to be related with RP, but epigenetic modifications may also be involved in the pathogenesis. Previous studies suggested that both DNA methylation and histone acetylation regulate photoreceptor cell death in RP mouse models. Read More

    Type IIB DNA topoisomerase is downregulated by trastuzumab and doxorubicin to synergize cardiotoxicity.
    Oncotarget 2018 Jan 21;9(5):6095-6108. Epub 2017 Dec 21.
    Division of Biotechnology Research and Review I, Office of Biotechnology Products, Office of Pharmaceutical Quality, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, USA.
    Despite heightened risk of cardiotoxicity associated with combination therapy of anthracyclines and trastuzumab in HER2-positive breast cancer patients, little research effort has been invested in exploring the molecular mechanisms of cardiotoxicity induced by this combination therapy. In this study, we demonstrate that trastuzumab downregulates both gene and protein expressions of type IIB DNA topoisomerase/DNA topoisomerase IIB (TOP2B), a major intracellular target mediating doxorubicin-induced cardiotoxicity, in human primary cardiomyocytes. This in turn induces DNA damage activity and DNA double strand breaks, which is indicated by the enhanced phosphorylation of H2AX (γH2AX) and ataxia telangiectasia and Rad3-related protein (ATR pS428) in trastuzumab-treated cardiomyocytes. Read More

    Anacardic acid inhibits pancreatic cancer cell growth, and potentiates chemotherapeutic effect by Chmp1A - ATM - p53 signaling pathway.
    BMC Complement Altern Med 2018 Feb 20;18(1):71. Epub 2018 Feb 20.
    Department of Chemistry, University of Pikeville, Pikeville, KY, 41501, USA.
    Background: Pancreatic cancer is one of the leading causes of cancer related death and its incidence has risen steadily. Although anticancer drugs have been developed based on the new molecular findings, the drugs have produced unsatisfactory results due to toxicity and resistance. Thus, a complementary therapeutic intervention is urgently needed for pancreatic cancer patients. Read More

    Antiviral activity of pyrrole-imidazole polyamides against SV40 and BK polyomaviruses.
    Antiviral Res 2018 Apr 16;152:68-75. Epub 2018 Feb 16.
    Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, 1200 Newell Drive, Gainesville, FL 32610, United States. Electronic address:
    The ability of antiviral polyamides (AVP) to act upon polyomaviruses (PyV) was evaluated. Initial studies found that a single treatment of AVP protected SV40-infected BSC-1 cells from cytopathic effect (CPE) for as long as 11 days p.i. Read More

    Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.
    Oxid Med Cell Longev 2017 31;2017:6745840. Epub 2017 Dec 31.
    Department of Pediatrics Rheumatology, Immunology, and Metabolic Bone Diseases, Medical University of Bialystok, Waszyngtona 17 Str., 15-274 Bialystok, Poland.
    This study compared the antioxidant status and major lipophilic antioxidants in patients with ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS). Total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), and concentrations of coenzyme Q10 (CoQ10) and vitamins A and E were estimated in the plasma of 22 patients with AT, 12 children with NBS, and the healthy controls. In AT patients, TAS (median 261. Read More

    Human Papillomaviruses Preferentially Recruit DNA Repair Factors to Viral Genomes for Rapid Repair and Amplification.
    MBio 2018 Feb 13;9(1). Epub 2018 Feb 13.
    Department of Microbiology-Immunology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    High-risk human papillomaviruses (HPVs) activate the ataxia telangiectasia mutated-dependent (ATM) DNA damage response as well as the ataxia telangiectasia mutated-dependent DNA-related (ATR) pathway in the absence of external DNA damaging agents for differentiation-dependent genome amplification. Through the use of comet assays and pulsed-field gel electrophoresis, our studies showed that these pathways are activated in response to DNA breaks induced by the viral proteins E6 and E7 alone and independently of viral replication. The majority of these virally induced DNA breaks are present in cellular DNAs and only minimally in HPV episomes. Read More

    Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
    Mov Disord 2018 Feb 13. Epub 2018 Feb 13.
    Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
    Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Read More

    Tip60 is associated with resistance to X-ray irradiation in prostate cancer.
    FEBS Open Bio 2018 Feb 28;8(2):271-278. Epub 2017 Dec 28.
    Department of UrologyRuijin HospitalShanghai Jiaotong University, School of MedicineChina.
    Tip60, an oncogene, accelerates cell growth by regulating androgen receptor translocation into the nucleus in prostate cancer. However, the mechanism of Tip60 in the response of prostate cancer to radiotherapy, and radioresistance, has not been studied. Using human prostate cancer samples and two human prostate cancer cell lines (LNCaP and DU145), Tip60 protein expression and the acetylation of ataxia telangiectasia mutant (ATM) were analysed by western blotting and immunoprecipitation. Read More

    Down-expression of poly(ADP-ribose) polymerase in p53-regulated pancreatic cancer cells.
    Oncol Lett 2018 Feb 29;15(2):1943-1948. Epub 2017 Nov 29.
    Department of General Surgery, The Affiliated Hospital, Logistics University of CATF, Tianjin 300162, P.R. China.
    The present study investigated whether poly(ADP-ribose) polymerase (PARP) has an effect on p53-regulated pancreatic cancer. The results of the present study demonstrated that the expression of PARP affects proliferation and apoptosis of pancreatic cancer cells. Olaparib was used to suppress the expression level of PARP-1 in PanC-1 cells. Read More

    Cytotoxic effect of Efavirenz in BxPC-3 pancreatic cancer cells is based on oxidative stress and is synergistic with ionizing radiation.
    Oncol Lett 2018 Feb 5;15(2):1728-1736. Epub 2017 Dec 5.
    Department of Radiation Oncology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, D-91054 Erlangen, Germany.
    The non-nucleoside reverse transcriptase inhibitor (NNRTI) Efavirenz is frequently used in human immunodeficiency virus treatment, but also efficient against cancer in mouse models. Its radiosensitizing effect makes it a promising drug for combination with radiotherapy. The efficacy of Efavirenz combined with irradiation was assessed with immunostaining of DNA-damage markers and colony formation assays in BxPC-3 pancreatic cancer cells. Read More

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