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 67 for “"telangiectasia"”.
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Genetic Analysis of Macular Telangiectasia
Macular telangiectasia type 2, or MacTel, is an adult onset retinal disease that causes progressive loss of central vision, usually beginning between the 5th and 7th decades of life. Macular degenerative diseases comprise a large portion of the blinding diseases affecting people over the age of 50. …
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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
… 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
… 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
… 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 when cells …
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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
… 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 practical …
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Lifestyle and clinical factors related to the deterioration of trunk varicose veins, telangiectasia, chronic venous insufficiency and venous reflux in the general population: Edinburgh Vein Study follow-up
… when adjusted for gender. The prevalence of telangiectasia was higher in females than in males in both the baseline and follow-up stages of the study (both p<0.01). The rate of deterioration in telangiectasia was 1.6% per annum. The commonest deterioration was from grade I (mild) at baseline …
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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
… 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 dramatically …
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Identificación macroscópica de patologías hepáticas de mayor prevalencia en bovinos faenados en el matadero PROINCASA, período del 07 de julio del 2010 - enero del 2011
… afectados con abscesos fue julio con un 5%, telangiectasia en octubre con un 9%, Ictericia en agosto con un 5% y para adherencia fue octubre con un 8%, del total de hígados con diferentes patologías por mes se obtuvo la mayor prevalencia en octubre con un 56% para abscesos, telangiectasia en …
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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 stem …
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Diagnostico histopatologico de lesiones hepaticas en bovinos faenados en el rastro municipal de Esteli en el periodo de marzo a agosto de 2008
… 12% se refiere peri hepatitis, 10% a hepatitis telangiectasia, 5% a hepatitis pigmentación 3.4% hepatitis crónica, hepatitis absceso, peri hepatitis fibrinosa y absceso, y los rangos de 1.7% corresponden a hemorragia, adherencia, telangiectasia absceso, combina 1 y 9, (hepatitis focal crónica, …
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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
… 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 N, but …
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Distinct DNA Damage Signaling in the Brain Distinguishes ATLD, NBS, and ATR-Seckel Syndrome
… 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 mutated …
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N-linked glycosylation at position ASN98 of the ALK1 receptor protein: relevance for ALK1 function and HHT pathogenesis
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder that results from a mutation of one of two key signaling receptors for the transforming growth factor beta (TGFβ) superfamily: endoglin and activin receptor-like kinase 1 (ALK1). These mutations result in …
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