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 84 for “"induced pluripotent stem cell"”.
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Investigating the effects of tau mutations in induced pluripotent stem cell-derived neurons
… and V337M). In this project, I differentiated induced pluripotent stem cells (iPSCs) derived from control subjects and people with the N279K or V337M MAPT mutations to monolayer neurons. There was an increase in the proportion of neurons containing tau phosphorylated at the AT8 epitope in N279K …
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CORRECTION OF THE GENETIC DEFECT IN INDUCED PLURIPOTENT STEM CELL LINES THROUGH CHROMOSOME TRANSPLANTATION
Since the discovery of stem cell in 1961, the knowledge and applications of pluripotent stem cells have expanded significantly, opening remarkable opportunities for fundamental discoveries and biomedical advancements, such as regenerative medicine, disease modelling, and drug screening. A pivotal …
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Human induced pluripotent stem cell models of Rett Syndrome reveal deficits in early cortical development
… in MeCP2-deficient human neurons with the use of induced pluripotent stem cells (iPSCs) derived from RTT patient skin samples. We generated a variety of monolayer and 3D neuronal models and found that RTT phenotypes are present at the earliest stages of brain development including neuroepithelial …
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The role of Synaptic Genes NRXN1 and SHANK3 in Autism: an induced pluripotent stem cell study
… and atypical communication between brain cells. This thesis aims to first establish and characterise an induced pluripotent cell (iPSC) derived neuronal model suitable for studying autism related synaptic genes. Secondly, it aims to study the effect of pre-synaptic NRXN1 and post-synaptic …
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INDUCED PLURIPOTENT STEM CELL DERIVED LIVER MODEL FOR THE STUDY OF PNPLA3-ASSOCIATED NON-ALCOHOLIC FATTY LIVER DISEASE
… steatohepatitis (NASH), cirrhosis, and hepatocellular carcinoma. Until recently, NAFLD has been considered to be a consequence of metabolic syndrome; however, recent studies suggest that genetic factors may also influence disease onset and progression. Accordingly, genome wide association …
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The core mammalian pluripotency network in induced pluripotent stem cell (iPSC) formation : models for genetic and epigenetic reprogramming
… experiment that converted mouse fibroblasts to a pluripotent phenotype coined the 'induced pluripotent stem cell' (iPSC) state. Unhindered by ethical or immunogenic constraints, iPSCs potentially hold the keys to tremendous applications in therapeutic and regenerative medicine. Furthermore, …
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Investigating the role of a FAM111B mutation in hereditary fibrosing poikiloderma (POIKTMP) using induced pluripotent stem cell (iPSC) model
… the FAM111B mutation (c.1861T>G) in the multi-systemic fibrosis affecting the South African kindred with POIKTMP. Dermal fibroblasts from two affected siblings and a familial control were reprogrammed into induced pluripotent stem cells (iPSCs) via the Sendai virus vector (SeVdp) packaged with …
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Modeling the Effects of Mechanical Loading on Hypertrophic Cardiomyopathy Pathogenesis in Human Induced Pluripotent Stem Cell derived Micro Heart Muscle
… Promising approaches in tissue engineering and stem cell biology have significantly improved the structural and functional maturity of the engineered heart tissue derived from human induced pluripotent stem cells, which can be served as a complementary method to traditional mouse models. …
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Investigating the role of NADPH oxidase 4 (NOX4) in differentiation and function of induced pluripotent stem cell–derived endothelial cells
Induced pluripotent stem cell-derived endothelial cells (iPS-ECs) hold clear potential for therapeutic angiogenesis in ischaemic diseases, although many challenges remain such as enrichment and expansion of homogenous, mature, highly proliferative and functional ECs. It is well established that …
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Role of Gigaxonin in the Regulation of Intermediate Filaments: a Study Using Giant Axonal Neuropathy Patient-Derived Induced Pluripotent Stem Cell-Motor Neurons
… ubiquitously-expressed cytoplasmic protein whose cellular roles are poorly understood. GAN pathology is characterized by aggregates of intermediate filaments (IFs) in multiple tissues. Disorganization of the neuronal intermediate filament (nIF) network is a feature of several neurodegenerative …
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Developing an induced pluripotent stem cell model of pulmonary arterial hypertension to understand the contribution of BMPR2 mutations to disease-associated phenotypes in smooth muscle cells
… of the first human iPSC-derived smooth muscle cell (iPSC-SMC) model of PAH and elucidates the role of BMPR2 deficiency in establishing PAH-associated phenotypes in iPSC-derived SMCs. To achieve this, I used CRISPR-Cas9 gene editing to generate wild-type and BMPR2+/- iPSC lines with isogenic …
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Contractile Properties of Striated Muscle in Development and In Disease
… development and disease at the protein, subcellular, and cellular level. Distal arthrogryposis is a skeletal muscle birth defect that can be caused by a mutation in embryonic myosin; herein, I have found that the continued muscle dysfunction is linked to a delay in relaxation, likely from …
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Modeling Alzheimer's Disease Using CRISPR/CAS9 Gene Editing and Induced Pluripotent Stem Cells Reveals Conserved Cellular Mechanisms
… A probable source of this lack of understanding stems from the poor disease model systems that have been utilized in the field for many years. Recently, advances in human induced pluripotent stem cell (iPSC) technology has enabled the study of uniquely human diseases, such as AD, in human tissue. …
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The Functional Role for Chromatin Loops in Gene Expression Control During Human Neuron Maturation
… in neuroscience, examine neural model systems, and build an auxin-inducible degron to deplete the architectural protein CTCF and disrupt loops genome-wide on short time scales during human induced pluripotent stem cell (iPSC)-derived post-mitotic neuronal maturation. We find thousands of …
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Effects of the MYH7 R369Q Dilated Cardiomyopathy-causing Mutation on Myosin Crossbridge Kinetics and Cardiomyocyte Contractility
… of this mutation on the contractile system within a cardiomyocyte that results in hypocontractility. To better understand the biochemical and biophysical effects of R369Q mutation, this study utilized CRISPR/Cas9-edited R369Q homozygous human induced pluripotent stem cell-derived …
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Stretch Injury Alters Calcium Dynamics and Actin Organization in Human Astrocytes
… pathology. This thesis investigates how human induced pluripotent stem cell (hiPSC)- derived astrocytes respond to mechanical strain, aiming to reproduce changes in astrocyte behavior that can initiate neurodegeneration. In this research, a two- dimensional in vitro stretch model was used to …
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Development of collagen-based scaffolds for differentiation of induced pluripotent stem cells
… engineering. A collagen hydrogel can provide cells with a porous and soft environment to proliferate and differentiate. However, lacking mechanical stiffness and shrinkage resistance made it a challenge to sustain shape and size during a long stem cell differentiation process. In addition, a …
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Systems Biology Approaches for Elucidating Early ALS Disease Processes
… omics characterization of patient-derived induced pluripotent stem cell (iPSC) models. I present analyses aimed at discovering disease pathways and genes associated with ALS using systems biology approaches. In patients with the C9orf72 mutation, I use a network-based algorithm to identify …
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