Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 51 for “"Ataxia telangiectasia"”.
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Exploring neurodegeneration in Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T) is a very rare autosomal recessive DNA repair disorder. The condition is characterised by a progressive neurodegenerative disorder. Cancer predisposition, immunodeficiency and respiratory disease can result in premature death. The life expectancy of a patient with A-T is …
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Validierung der Zellzyklusdiagnostik bei Ataxia telangiectasia
… Patienten mit der klinischen Verdachtsdiagnose Ataxia telangiectasia beschrieben. Hierzu wurden die Daten von 327 Patienten ausgewertet. In 82 Fällen ergab sich eine Bestätigung der Verdachtsdiagnose, in 225 Fällen konnte das Vorliegen dieser Erkrankung ausgeschlossen werden, bei den übrigen …
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How is Ataxia-Telangiectasia Mutated Protein Kinase Activated?
Ataxia-Telangiectasia Mutated (ATM) is a key protein kinase in the cell’s response to double-stranded breaks in DNA. This damage is detected by the Mre11-Rad50-Nbs1 (MRN) complex, which recruits ATM to the DNA. Upon activation, ATM phosphorylates a vast range of substrates, which triggers a …
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The role of neuron-microglial interactions in Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T) is a genome instability disorder characterised by progressive loss of cerebellar neurons, as well as metabolic and immunological deficits. A-T is caused by mutations in ATM kinase, a critical regulator of cellular response to DNA damage, oxidative stress, and more …
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Mechanisms of cytosolic DNA sensing and neuroinflammation in ataxia-telangiectasia
… stability in the central nervous system (CNS). Ataxia-telangiectasia (A-T) is a prototypical genome instability syndrome caused by loss-of-function mutations in ATM kinase, a master regulator of the cellular response to DNA damage, including DNA double stand breaks and oxidative stress. A-T is a …
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In vivo and in vitro studies of immunodeficiency in Ataxia-telangiectasia
Ataxia-telangiectasia (A-T) is a rare neurodegenerative disorder caused by mutations in the ATM gene which has a central role in the cellular response to DNA double strand breaks, cell cycle checkpoint control and initiation of the intrinsic pathway of apoptosis. Ataxiatelangiectasia is classified …
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THE FUNCTION OF MRN (MRE11-RAD50-NBS1) COMPLEX DURING WRN (WERNER) FACILITATED ATM (ATAXIA-TELANGIECTASIA MUTATED) ACTIVATION
… cancer-prone and premature aging disease. ATM (Ataxia-Telangiectasia mutated) protein initiates a signaling pathway in response to DNA double strand breaks (DSBs). Genomic disorder ataxia-telangiectasia (A-T) is associated with defective ATM. WRN protein is involved in ATM pathway activation …
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Co-producing healthcare guidance for children and young people with ataxia telangiectasia (A-T) including the exploration and design of a home-based complex intervention
… for children and young people (CYP) living with ataxia telangiectasia (A-T), a rare and complex neurodegenerative condition. Addressing significant gaps in non-medical care provision, the project was structured into four interrelated work packages (WPs), each contributing original insights and …
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Il cane come modello animale spontaneo di patologie neoplastiche dell'uomo: ene Ataxia-Telangiectasia Mutated (ATM) Nnella predisposizione al cancro ed importanza dei riarrangimanti genici dei geni Ig/TCR per la diagnosi e prognosi delle malattie linfoproliferative
… investigating the role of somatic mutations of Ataxia-Telangiectasia mutated (ATM) gene in predisposing to cancer in boxer dogs, are presented. The canine boxer breed may be considered an unique opportunity to disclose the role of ATM somatic mutation since boxer dogs are known to be …
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Double-Strand Break Repair Mechanisms in Human Embryonic Stem Cells
… kinase (PIKK) family, including Ataxia Telangiectasia Mutated (ATM), Ataxia Telangiectasia Mutated and Rad3-related (ATR) and the DNA dependent protein kinase (DNA-PK). The aim of this study was to define the mechanisms and important proteins involved in repair of human embryonic …
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The role of ATM responding to DNA damage induced by Xrcc1 deficiency during oligodendrocyte genesis
Ataxia telangiectasia (A-T) is a prime example of hereditary disease about DNA damage signaling and repair protein deficiency. A-T is an autosomal recessive neurodegenerative disorder associated the defective ATM (Ataxia telangiectasia mutated) gene that is estimated to affect 1 in 40,000-300,000 …
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Tyrosine 370 Phosphorylation of Atm Positively Regulates Dna Damage Response
<p>Ataxia telangiectasia-mutated (ATM) mediates DNA damage response by controlling irradiation (IR)-induced foci formation, cell cycle checkpoint, and apoptosis. However, how upstream signaling regulates ATM is not completely understood. Here, we show that upon IR stimulation, ATM associates with …
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Genotoxic effects of nano and bulk forms of aspirin and ibuprofen on blood samples from prostate cancer patients compared to those from healthy individuals: The protective effects of NSAIDs against oxidative damage, quantification of DNA repair capacity and major signal transduction pathways in lymphocytes from healthy individuals and prostate cancer patients
… was investigated by studying their effect on ataxia-telangiectasia-mutated kinase (ATM) and ataxia-telangiectasia and Rad3-related kinase (ATR) mRNA. ATM mRNA significantly increased after treatment with ASP B, ASP N and IBU N. ATR expression also increased after treatment with IBU B and IBU …
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Distinct DNA Damage Signaling in the Brain Distinguishes ATLD, NBS, and ATR-Seckel Syndrome
… gene and the pathway in which it operates. Ataxia-telangiectasia (A-T) is the prototypical disease associated with DNA double strand break (DSB) repair deficiency and is characterized by severe neural pathology. A-T results from homozygous mutations that inactivate the ataxia-telangiectasia …
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Targeting the DNA damage response protein ATR kinase in pancreatic cancer
… increases reliance on the RS-response factor, Ataxia Telangiectasia and Rad3-related (ATR) kinase. Furthermore, many chemotherapies used in the treatment of PDAC increase RS, leading to ATR activation which limits the efficacy of these therapies. Therefore, there is good rationale for targeting …
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Investigation of the metabolic phenotype and metformin response of <i>ATM</i> heterozygous mice
… allele: C). This SNP was linked with the gene Ataxia Telangiectasia Mutated (ATM) as mutations in the ATM gene cause Ataxia Telangiectasia (A-T) and patients have been reported to develop insulin resistance and hyperglycaemia.<br/><br/>Metformin response was studied in C57BL/6J (WT) male mice …
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ROLE OF ATM IN THE PATHOPHYSIOLOGY OF MAJOR DEPRESSIVE DISORDER (MDD)
Ataxia-telangiectasia mutated (ATM) is a serine/threonine protein kinase involved in the DNA damage repair (DDR) and many other cell processes. In neurons, ATM contributes to vesicles trafficking, neurotransmitter release, excitatory/inhibitory balance maintenance, the development of GABAergic …
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UNDERSTANDING THE MOLECULAR MECHANISM LINKING ATM TO METABOLIC REGULATION.
Ataxia Telangiectasia (A-T) is a pleiotropic autosomal recessive disease characterized by progressive neurodegeneration, immunodeficiency, sensitivity to ionizing radiation and premature aging. The molecular basis of A-T is loss of function of the gene encoding A-T-mutated (ATM), a serine/threonine …
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ATM REGULATES THE NF-kB PATHWAY VIA RELA SER 276 PHOSPHORYLATION
Ataxia-Telangiectasia Mutated (ATM), a member of the phosphatidylinositol 3 kinase-like kinase family, is a master regulator of the double strand DNA break-repair pathway after genotoxic stress. Here we found ATM serves as an essential regulator of TNF-and RSV- induced NF-kB pathway. We observed …
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