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 9 of 9 for “"ATM Protein"”.
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Exploring neurodegeneration in Ataxia-Telangiectasia
… highly heterogeneous when partially functioning ATM protein and kinase are present. The exact mechanism for disease causation and associated phenotype is unclear. It is also unknown why the cerebellum is so vulnerable in this condition. There are increasing reports of the association of …
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Personalised Risk Assessment of Low-dose Radiation Effects on Spermatogenesis
… genome database, we investigated variants of the ATM and MSH5 genes, including MSH5 85C>T (p.Pro29Ser) (rs2075789), that are responsible for radiotherapy-related spermatogenic impairment. We found regional differences in the frequency of rs2075789. We also demonstrated the diversity of ATM gene …
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A study of the role of ATM mutations in the pathogenesis of B-cell chronic lymphocytic leukaemia
Mutations in the ATM gene have previously been identified in CLL tumours. In this project, I have demonstrated that their detection would have prognostic value. With a prevalence of 12%, ATM mutations represent the commonest single gene defect to be detected in CLL tumours and they identified a …
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Characterizing Chromosomal Aberrations in Cells Deficient for Both ATM and MSH2
<p>Ataxia telangiectasia mutated (ATM) and mutS homologue 2 (MSH2) are important DNA repair proteins that participate in DNA repair pathways to maintain genomic integrity. Mice deficient for ATM and MSH2 mice are viable. However, <em>ATM<sup>-/-</sup></em> mice show growth retardation, neurological …
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Identification and characterization of novel autoregulatory mechanism controlling ataxia telangiectasis mutated gene expression, protein traffiking and function
Ataxia-telangiectasia mutated gene product (ATM) is a 350 kDa Serine/Threonine kinase belonging to the family of Phosphatidylinositol-3 kinase like kinases. ATM functions as a key element in DNA Damage Response (DDR), a mechanism that maintains genomic integrity within the cells. ATM is activated …
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Identification of Intracellular Signaling Pathways Regulated by the TAO Family of Mammalian STE20p Kinases
… 2 and 3 are a sub-family of mammalian Ste20p protein kinases. They have been shown to regulate activation of p38 MAPK by phosphorylating and activating MEK3 and 6. Little is known about the precise cellular roles for these TAO protein kinases, or whether they function together or individually …
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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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H2O2-mediated oxidation and nitration enhances DNA binding capacity / DNA repair via up-regulated epidermal wild-type p53 in vitiligo.
… oxidative stress on the function of many proteins and peptides due to oxidation of target amino acid residues in their structure including L-methionine, L-tryptophan, L-cysteine and seleno cysteine (Rokos, Beazley et al. 2002; Gillbro, Marles et al. 2004; Hasse, Kothari et al. 2005; …
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Distinct DNA Damage Signaling in the Brain Distinguishes ATLD, NBS, and ATR-Seckel Syndrome
… inactivate the ataxia-telangiectasia mutated (ATM) gene, and typically presents in early childhood as cerebellar ataxia accompanied by ocular telangiectasias, elevated α-fetoprotein levels, and lymphoma predisposition compounded by radiosensitivity. The ATM protein is a large (~380 kDa) protein …