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Cell Metabolism, ISSN 1550-4131, 10/2016, Volume 24, Issue 4, pp. 566 - 581
Journal Article
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 07/2018, Volume 142, Issue 1, pp. 246 - 257
Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory... 
Artemis deficiency | neutrophil extracellular traps | NETosis | Primary immunodeficiencies | interferonopathy | autoinflammation | ataxia telangiectasia | type I IFN | SYSTEMIC-LUPUS-ERYTHEMATOSUS | INTERFERONOPATHIES | CUTANEOUS GRANULOMAS | IMMUNOLOGY | MITOCHONDRIAL-DNA | DAMAGE | COMBINED IMMUNODEFICIENCY | ALLERGY | DISEASE | ACUTE MYOCARDIAL-INFARCTION | DCLRE1C MUTATIONS | Endonucleases - deficiency | Neutrophil Activation | Membrane Proteins - genetics | Humans | Vasculitis - pathology | Neutrophils - immunology | Endonucleases - immunology | Interferon Type I - immunology | Nuclear Proteins - immunology | Ataxia Telangiectasia - immunology | Vasculitis - immunology | Vasculitis - genetics | Extracellular Traps - immunology | Ataxia Telangiectasia - pathology | Nuclear Proteins - deficiency | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - immunology | Neutrophils - pathology | Ataxia telangiectasia | Ataxia | Interferon | Fluorescence microscopy | Flow cytometry | Reactive oxygen species | Phosphorylation | DNA damage | Disorders | Fluorescence | Cytosol | Accumulation | Proteins | α-Interferon | Genotype & phenotype | Mitochondria | Cell activation | Vascular diseases | Etiology | Peripheral blood | Stat1 protein | Signatures | Deoxyribonucleic acid--DNA | Enzyme-linked immunosorbent assay | Cytokines | DNA probes | Dendritic cells | Review boards | Lung diseases | Blood cells | Neutrophils | Leukocytes (neutrophilic) | Inflammation | Gene expression | Patients | Hypotheses | Microscopy | Mutation | Leukocytes (granulocytic) | Cytoplasm
Journal Article
Clinical Genetics, ISSN 0009-9163, 2016, Volume 90, Issue 2, pp. 105 - 117
Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by... 
ataxia‐telangiectasia | heterozygote | risk factor | ATM protein | ataxia-telangiectasia | VARIANTS | FANCONI-ANEMIA | RADIATION | CARRIERS | XERODERMA-PIGMENTOSUM | BREAST-CANCER RISK | FAMILIES | GENETICS & HEREDITY | RADIOSENSITIVITY | EXPRESSION | ATM GENE-MUTATIONS | Myocardial Ischemia - genetics | Gastrointestinal Neoplasms - genetics | Humans | Middle Aged | Breast Neoplasms - etiology | Genetic Counseling | Gastrointestinal Neoplasms - pathology | Life Expectancy | Adult | Female | Ataxia Telangiectasia - complications | Myocardial Ischemia - diagnosis | Ataxia Telangiectasia - diagnosis | Gene Expression | Genetic Predisposition to Disease | Risk Factors | Gastrointestinal Neoplasms - diagnosis | Evidence-Based Medicine | Gastrointestinal Neoplasms - etiology | Myocardial Ischemia - pathology | Breast Neoplasms - genetics | Myocardial Ischemia - etiology | Breast Neoplasms - pathology | Ataxia Telangiectasia - pathology | Ataxia Telangiectasia - genetics | Heterozygote | Breast Neoplasms - diagnosis | Mutation | Ataxia Telangiectasia Mutated Proteins - genetics | Practice Guidelines as Topic | Nervous system diseases | Oncology, Experimental | Mortality | Practice guidelines (Medicine) | Ataxia | Ataxia telangiectasia | Research | Heart diseases | Health aspects | Risk factors | Cancer | Hormone replacement therapy | Breast cancer | Health risk assessment
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 01/2015, Volume 73, Issue 7, pp. 638 - 638
Ataxia-telangiectasia is an autosomal recessive disorder caused by mutation in the ATM gene. Symptoms are characterized by progressive cerebellar ataxia,... 
PSYCHIATRY | NEUROSCIENCES | Magnetic Resonance Imaging | Ataxia Telangiectasia - pathology | Humans | Atrophy - pathology | Male | Child | Eye Diseases - pathology | Cerebellum - pathology
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2009, Volume 34, Issue 2, pp. 212 - 220
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 08/2018, Volume 40, Issue 6, pp. 483 - 486
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2008, Volume 118, Issue 1, pp. 79 - 88
Despite great interest in cancer chemoprevention, effective agents are few. Here we show that chloroquine, a drug that activates the stress-responsive Atm-p53... 
MEDICINE, RESEARCH & EXPERIMENTAL | BCL-X-L | SIGNALING PATHWAYS | INDUCED APOPTOSIS | PHOSPHORYLATION | ATM | AUTOPHAGY | CYTOCHROME-C RELEASE | MYC-INDUCED LYMPHOMAGENESIS | TRANSGENIC MICE | P53 | Apoptosis - drug effects | Humans | Apoptosis - genetics | Male | Autophagy - drug effects | Burkitt Lymphoma - pathology | Neoplasms, Experimental - pathology | Chloroquine - pharmacology | Cell Transformation, Neoplastic - genetics | Autophagy - genetics | B-Lymphocytes - pathology | B-Lymphocytes - metabolism | Protein-Serine-Threonine Kinases - metabolism | Fibroblasts - metabolism | Tumor Suppressor Proteins - metabolism | Embryo, Mammalian - pathology | Cell Cycle Proteins - metabolism | Neoplasms, Experimental - prevention & control | bcl-2-Associated X Protein - metabolism | Ataxia Telangiectasia Mutated Proteins | Fibroblasts - pathology | Ataxia Telangiectasia - pathology | Ataxia Telangiectasia - genetics | Mice | Proto-Oncogene Proteins c-myc - genetics | Neoplasms, Experimental - metabolism | bcl-2 Homologous Antagonist-Killer Protein - genetics | bcl-2 Homologous Antagonist-Killer Protein - metabolism | Embryo, Mammalian - metabolism | Tumor Suppressor Protein p53 - genetics | DNA-Binding Proteins - metabolism | Caspases - metabolism | Lysosomes - metabolism | Burkitt Lymphoma - prevention & control | Mice, Mutant Strains | Tumor Suppressor Proteins - genetics | Neoplasms, Experimental - genetics | Burkitt Lymphoma - genetics | Cell Cycle Proteins - genetics | Female | Lysosomes - pathology | Antirheumatic Agents - pharmacology | bcl-2-Associated X Protein - genetics | Antirheumatic Agents - therapeutic use | Ataxia Telangiectasia - prevention & control | Caspases - genetics | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Tumor Suppressor Protein p53 - metabolism | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Burkitt Lymphoma - metabolism | Chloroquine - therapeutic use | Ataxia Telangiectasia - metabolism | DNA-Binding Proteins - genetics | Cell Transformation, Neoplastic - metabolism | Proto-Oncogene Proteins c-myc - metabolism | Animals | Cyclin-Dependent Kinase Inhibitor p16 - metabolism | Cell Transformation, Neoplastic - pathology | Prevention | Chloroquine | Lysosomes | Dosage and administration | Research | Drug therapy | Health aspects | Cancer
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 3, pp. 561 - 571
Journal Article