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 145 for “"genetic mutations"”.
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Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators
The file named "LankesRichard.pdf" is the primary dissertation file. The file named "Lankes_Zipped_Media_Files.zip" is a zipped file folder with 42 files (in 5 folders), which contains all the other files listed here.
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Analysis of genetic mutations using a recombinant model of the mammalian pyruvate dehydrogenase complex
… PDC have been implicated in a wide variety of genetic, metabolic and autoimmune disorders. Over 200 PDC-linked mutations have been reported to date in the human population leading to clinical symptoms of various magnitudes and manifestations, mostly in the X-linked gene for the α subunit of the …
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Genetic Mutations of K<sub>Ca</sub>2.3 and K<sub>Ca</sub>3.1 Channels Affect Ca2+ Sensitivity
… </sub>channels caused by gain of function mutations (GOF) in the <em>KCNN</em> genes results in a broad spectrum of human channelopathies, including Zimmermann- Laband syndrome (ZLS), idiopathic non-cirrhotic portal hypertension (INCPH), and hereditary xerocytosis (HX). The impact of …
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Characterizing the Impact of Specific Genetic Mutations on Chemotherapy Resistance and the Efficacy of Oncolytic Viruses for the Treatment of Ovarian Cancer
… of the TME, which can be altered due to specific genetic mutations. The present study evaluates the impact of specific tumour mutations on the response to carboplatin, the current standard of care, and VSV∆M51, a promising OV candidate. After a study of genetically diverse models, constitutive …
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Simultaneous visual and electro-cardiogram measurements of zebrafish embryos
… lead to a better understanding of cardiological genetic mutations. This method of measuring the heart rate can supply information on the strength and pattern of the heartbeat, and also detect irregularities in the beat, which could lead to further understanding of cardiological genetic mutations …
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CRISPR-integrated Biosensors for Human Health: Novel strategies for pathogen detection and cancer screening
Rapid and accurate detection of pathogens and genetic mutations is essential for improving public health, guiding clinical decisions, and ensuring food safety. CRISPR-based biosensors offer a promising solution due to their programmability, sensitivity, and versatility. This dissertation focuses on …
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Per Mutations
… radioactive isotopes, infamous scientists, genetic mutations, the Apollo missions, and other subjects to hold beside her own experiences so that she might better understand how to cope with the death of a loved one. Particularly, in this collection, the author seeks to understand the …
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Vilniaus universiteto ligoninės Santaros klinikų Plastinės ir rekonstrukcinės chirurgijos centro penkių metų patirtis atliekant profilaktines mastektomijas /
… to November 2023, specifically due to identified genetic mutations. The study received approval from the Vilnius Regional Biomedical Research Ethics Committee (Authorization No. 2023/12-1548-1017). Statistical analysis was carried out using Microsoft Office Excel and RCommander software packages. …
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The impact of supplemental vitamin D on motor learning and seizures in mice with hyperactive mTOR induced epilepsy and ataxia.
Genetic mutations that cause hyperactive mTOR signaling in the cerebellum lead to disrupted cerebellar growth, debilitating motor impairments, and may contribute to the development of epilepsy. mTOR inhibitors can reduce seizures and may prevent behavioral impairments but are associated with …
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Clinical and Molecular Overview of Hypertrophic Cardiomyopathy through JPH-2 Mutations and Presentation in Clinical Case Study
… cardiac death. The disease's etiology stems from genetic mutations in various components of the sarcomere such as the myosin binding regions. One particular mutation affecting calcium handling in the sarcoplasmic reticulum, JPH-2, manifests as a possible mechanism for the onset of sudden death and …
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I Cut Off My... Voice: An Autoethnography of an Artist and Art Educator with a BRCA Genetic Mutation
<p>The effects of BRCA genetic mutations on artists and art educators had not been known. Autoethnography is a qualitative method for writing about personal experiences through a cultural lens. I used my personal experiences within a BRCA positive community to understand shared experiences among …
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Modeling Alzheimer's Disease Using CRISPR/CAS9 Gene Editing and Induced Pluripotent Stem Cells Reveals Conserved Cellular Mechanisms
… autosomal dominant familial AD (fAD) result from genetic mutations in three key genes: amyloid precursor protein (APP), and two APP processing-related genes (presenilin-1 (PSEN1), and presenilin-2 (PSEN2)), supporting the theory that altered APP metabolism is a central cause of AD. However, which …
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Sequence analysis of the E-cadherin (CDH1) gene in a cohort of gastric cancers seen in the Western Cape
… cancer and these include both environmental and genetic factors. Amongst the genetic factors, the E-cadherin (CDH1) gene is said to play a major role in the development of gastric cancer. Both germline and somatic mutations have been identified in the CDH1 gene. The germline mutations span the …
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Automating comprehensive literature review of cancer risk journal articles
… that estimates risk of cancer based on genetic mutations. The calculator requires a lot of high quality data from medical journals, which is laborious to obtain by hand. In this thesis, I automate the process of obtaining medical abstracts from PubMed and develop a classifier that uses …
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Effects of the MYH7 R369Q Dilated Cardiomyopathy-causing Mutation on Myosin Crossbridge Kinetics and Cardiomyocyte Contractility
… of understanding the molecular consequences of genetic mutations.
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Resistance to hepatitis C virus : potential genetic and immunological determinants
… evidence from in vitro studies that genetic polymorphisms may confer resistance to establishment of infection. This doctoral research project explores evidence for protective immunity, including via genetically programmed variations in host responses and provides evidence that genetic …
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Relationship of brain functional, structural and vascular patterns to cognition in ageing and dementia
… decline across the adult lifespan and in genetic frontotemporal dementia. On healthy ageing subjects from the Cam-CAN cohort, I applied linked independent component analysis which allows for simultaneous characterization of MRI-based structural, cerebrovascular, and functional …
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Weak signal identification and inference in penalized model selection
… drug susceptibility data to identify genetic mutations associated with HIV drug resistance. We also provide signal's inference method based on the exact distribution of penalized estimator. The finite sample distribution is quite different from its asymptotic counterpart, which can be …
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Pan-Cancer Analysis of RNA Dysregulation, Somatic Mutations, and Matrix Stiffness using Bioinformatics Approaches
Cancer is a complex disease driven by genetic mutations, epigenetic modifications, and alterations in the tumor microenvironment. Understanding these intricate molecular mechanisms is crucial for advancing cancer diagnosis, prognosis, and treatment. RNA sequencing (RNA-seq) has emerged as a …
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Development of an Optogenetic Tool for Targeted Sensory Hair Cell Ablation in Zebrafish
… mechanical information into neuronal signals. Mutations in the genes required for hair cell function cause deafness and lead to the degeneration of sensory hair cells. Mammals are unable to regenerate these cells, leading to the permanent loss of hair cells. Research efforts are being made to …
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