Open Access. Powered by Scholars. Published by Universities.®

Life Sciences Commons™

Open Access. Powered by Scholars. Published by Universities.®

Theses and Dissertations

Discipline
Institution
Keyword
Publication Year
File Type

Articles 271 - 300 of 5010

Full-Text Articles in Life Sciences

Patterns Of Fire History And Vegetation Changes In The Last 5000 Years: A Paleoecological Study Of Iquitos, Annabel Zwarts May 2025

Patterns Of Fire History And Vegetation Changes In The Last 5000 Years: A Paleoecological Study Of Iquitos, Annabel Zwarts

Theses and Dissertations

The vegetation of the Amazonian rainforest is hypothesized to have been shaped by pre-Columbian activities, such as burning and palm management to various extents. Management of palms is hypothesized to have caused some of the most useful species to become hyperdominant in Amazonia. This study investigated the extent to which human activities over the past 5000 years affected palm abundances in mature lowland rainforests near Iquitos, Peru. I used phytoliths and charcoal from soil cores to determine the history of local floras, and modern palm surveys to compare modern phytolith occurrence with modern vegetation. Because pre-Columbian activity clustered along the …


Emotional Outbursts In Latinx Autistic Youth With Intact Or Non-Intact Families; Frequency, Severity, And Socio-Demographic Correlates, Sandra Lucia Masso Hernandez May 2025

Emotional Outbursts In Latinx Autistic Youth With Intact Or Non-Intact Families; Frequency, Severity, And Socio-Demographic Correlates, Sandra Lucia Masso Hernandez

Theses and Dissertations

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction, communication, and restricted repetitive behaviors. One of the core difficulties in individuals with ASD is related to emotional outbursts. Emotional outbursts (EO) are behavioral episodes in response to situations, environmental and physiological stimuli that occur in an extreme, unpleasant, sometimes aggressive way, often disproportionate to the context. Considering the impacts that EO’s can cause in populations with neurodevelopmental disorders and on the well-being and mental health of parents/caregivers, the need arises to evaluate these populations. Due to the core characteristics of ASD (such as a rigid mentality, …


Hybrid Bermudagrass Drought Tolerance In A Cool-Season Climate, Ashley J. Beazer Apr 2025

Hybrid Bermudagrass Drought Tolerance In A Cool-Season Climate, Ashley J. Beazer

Theses and Dissertations

Kentucky bluegrass (Poa pratensis L.) (KBG) is the most commonly grown cool-season C3 turfgrass. However, as global temperatures rise, KBG struggles to tolerate higher temperatures, leading to increased irrigation demands--a growing concern in arid and semi-arid regions facing escalating drought conditions. In contrast, hybrid bermudagrass (HBG; Cynodon dactylon [L.] Pers. x Cynodon transvaalensis Burtt Davy), a warm-season C4 grass, has demonstrated promising adaptability in traditionally cool-season climates. Since 2008, HBG has been successfully grown with minimal winterkill in Provo, UT, USA, and is now being considered for broader adoption in similar climates. Two separate studies were conducted to evaluate the …


Water Conservation For The Great Salt Lake: Measuring Success And Uncertainty In Utah's Efforts, Sarah E. Witney Apr 2025

Water Conservation For The Great Salt Lake: Measuring Success And Uncertainty In Utah's Efforts, Sarah E. Witney

Theses and Dissertations

The Great Salt Lake in Utah, United States is one of many saline lakes worldwide that is currently in decline. The shrinkage and collapse of global saline lakes is primarily caused by irrigated agriculture and other human consumptive uses, with secondary contributions from global climate change. Great Salt Lake's area has decreased by more than 50% relative to its long-term natural level. The decline of these lakes triggers serious and long-lasting socioeconomic consequences, including destruction of habitat, degradation of air quality, and damage to the economy. The Utah state government has instituted a variety of programs to conserve water to …


Finding Patterns In Disturbance: Modeling Ecosystem Recovery Using A Machine Learning Approach, Paden D. Allsup Apr 2025

Finding Patterns In Disturbance: Modeling Ecosystem Recovery Using A Machine Learning Approach, Paden D. Allsup

Theses and Dissertations

Some of the most visible effects of Anthropogenic climate change are shifts in resource (water) availability, and disturbance regimes across the world. Ecosystems across the world are now being forced to adapt to amplified disturbances, or in some cases, completely new disturbance types. These shifts have major implications for ecosystem stability and functioning, and more broadly for nutrient cycling across the world. In the western USA, wildfire is playing a larger and more dramatic role than before, altering vegetation communities, landscape stability, and soil and stream chemistry. While fire has always played an important role in semi-arid ecosystems, the scale …


Assessing Innovations In Wildlife Monitoring: Estimating Abundance And Inferring Parturition Of Ungulates With Technology, Elicia Cotcher Apr 2025

Assessing Innovations In Wildlife Monitoring: Estimating Abundance And Inferring Parturition Of Ungulates With Technology, Elicia Cotcher

Theses and Dissertations

Enhancements in technology are creating opportunities for novel methods of wildlife monitoring. Traditional methods of wildlife monitoring are often costly or time-consuming, and new technological advancements such as remote cameras and GPS collars are creating opportunities for exploration as these technologies become more accessible and reliable. We sought to assess the efficacy of two novel methods of ungulate monitoring. The first is an abundance estimation method using remote cameras termed Instantaneous Sampling (IS). IS seeks to estimate abundance using time lapsed remote cameras on a population of unmarked individuals. Our goal was to compare IS estimations against the true observed …


Effects Of Novel Fire Regimes On Plant And Animal Communities, Ryan Pienaar Apr 2025

Effects Of Novel Fire Regimes On Plant And Animal Communities, Ryan Pienaar

Theses and Dissertations

Human actions are threatening global biodiversity through changes to ecosystems to which species are not well adapted. One of the main pathways by which humans affect change is through altered disturbance regimes. This includes changes in the size, frequency, and severity of wildfires. The impact of wildfires on native plant and animal communities varies across ecosystems as species in a community have adapted relatively predictable fire patterns over time. Changing fire patterns alters successional dynamics that can favor certain species over others and thus have a negative impact on biodiversity. This dissertation evaluates responses of different plant and animal species …


Methamphetamine Effects On The Striatal Neuroimmune System, Hillary Adelaide Wadsworth Apr 2025

Methamphetamine Effects On The Striatal Neuroimmune System, Hillary Adelaide Wadsworth

Theses and Dissertations

Dopamine is thought of as the reward molecule of the brain, and while it does deal with reward, it is also associated with motivation and crucial for controlled movement. There are two main dopaminergic systems in the brain, the nigrostriatal system, which originates in the substantia nigra compacta and projects dopamine into the dorsal striatum; and the mesolimbic system, which originates in the ventral tegmental area and projects dopamine into the nucleus accumbens. While the mesolimbic dopamine system deals with motivation and reward, the nigrostriatal pathway underlies movement. Microglia are the immune cells of the brain and are incredibly dynamic. …


Maximizing Germination Of Three Native Plants For Rangeland Restoration And Urban Landscapes Through Seed Enhancements, Janetta Teichert Apr 2025

Maximizing Germination Of Three Native Plants For Rangeland Restoration And Urban Landscapes Through Seed Enhancements, Janetta Teichert

Theses and Dissertations

Native plants offer numerous ecological benefits and opportunities for both rangeland restoration and urban landscaping, making their integration essential for building sustainable ecosystems. They enhance soil health, promote pollinator activity, increase microbial diversity, and support both wildlife and livestock, all of which contribute to overall ecosystem resilience. A promising strategy to improve the use of native plants is the application of seed enhancement technologies, which can optimize seed germination, improve seedling establishment, and enhance overall plant success in challenging environments. These post-harvest seed treatments incorporate materials that improve seed performance, often through coatings composed of binders, fillers, and active ingredients. …


Genetic Regulation Of Anthocyanin Biosynthesis In Flower Color In Gilia, Veronica Mosquera Apr 2025

Genetic Regulation Of Anthocyanin Biosynthesis In Flower Color In Gilia, Veronica Mosquera

Theses and Dissertations

Gilia was the model species in this research to study the genetic regulation of flower color. I generated an F2 population from a cross of two closely related leafy-stemmed Gilia: G. capitata with blue and G. yorkii with white flowers, to obtain the fertile F1, which was selfed. The F2 population showed a segregation ratio between pigmented versus white flowers 3:1, suggesting a single locus with a major effect on the regulation of flower color. Then, the G. yorkii genome was assembled and annotated to become the reference genome to genotype-by-sequencing (GBS) 189 F2 individuals. The Quantitative Trait Loci (QTL) …


Differential Binding Of Host Cell Proteins By Vpr Mutant R77q Compared With Wild Type Vpr, Madison C. Wagley Apr 2025

Differential Binding Of Host Cell Proteins By Vpr Mutant R77q Compared With Wild Type Vpr, Madison C. Wagley

Theses and Dissertations

HIV Viral protein R (Vpr) is a multifunctional accessory protein which plays a role in nuclear import of the pre-integration complex, transactivation of HIV LTR promoter, cell cycle arrest, and apoptosis during HIV infection. R77Q is an HIV Vpr mutant which is associated with long-term non-progressor phenotypes, and which has previously been connected to higher levels of apoptosis compared to wild type Vpr in vitro. There are observable differences in host binding partners with HIV Vpr between wild type and R77Q strains as shown via coimmunoprecipitation and mass spectrometry. In one run R77Q samples showed binding to histone 1.2, 1.3, …


Development Of Raman Spectroscopic Methods To Analyze Chemical, Biological, And Physical Constituents For Food Safety And Quality, Hannah C. Broadbent Apr 2025

Development Of Raman Spectroscopic Methods To Analyze Chemical, Biological, And Physical Constituents For Food Safety And Quality, Hannah C. Broadbent

Theses and Dissertations

Ensuring food safety and quality is crucial for consumer health, satisfaction, and regulatory compliance. This study aims to develop rapid, reliable methods for detecting food constituents (i.e. lactose), pathogens (i.e. Listeria monocytogenes), and contaminants (i.e. micro- and nano-plastics) using Raman spectroscopy. With advantages like high specificity, minimal sample preparation, and fast analysis, Raman spectroscopy offers a promising alternative to traditional methods. This research explores its application in assessing chemical, biological, and physical properties of food to enhance safety and quality monitoring. Lactose-free products are increasingly popular due to the global prevalence of lactose intolerance, creating a need for effective verification …


Modeling Differential Expression In Scrna-Seq Data With A Difference Of Two Negative Binomial Distributions, Alicia Petrany Apr 2025

Modeling Differential Expression In Scrna-Seq Data With A Difference Of Two Negative Binomial Distributions, Alicia Petrany

Theses and Dissertations

Single cell RNA sequencing (scRNA-seq) is a powerful high throughput sequencing technology that quantifies the transcriptome at a single cell resolution. Differential expression (DE) analysis is a key scRNA-seq analysis task that identifies genes with statistically significant expression changes in response to biological stimuli. Existing DE methods inherently attempt to determine whether two sets of negative binomially distributed read counts are significantly different but lack exact testing strategies to do so. This work introduces a novel theoretical distribution, the Difference of Two Negative Binomial Distributions (DOTNB), and implements it within DEGage, an R package for DE analysis. Benchmarking DEGage against …


Studies Evaluating Practices For Water Conservation: In-Situ Sensors For Determining Soil Field Capacity And Water Application Savings From Rebate-Driven Residential Landscape Transformations, Madison E. Martini Apr 2025

Studies Evaluating Practices For Water Conservation: In-Situ Sensors For Determining Soil Field Capacity And Water Application Savings From Rebate-Driven Residential Landscape Transformations, Madison E. Martini

Theses and Dissertations

Water conservation is a critical issue that requires solutions to address growing water scarcity. In both agricultural and urban settings, targeting conservation efforts is essential for lasting progress as well as protection of communities and ecosystems. This research focuses on identifying practical means to reduce water use by studying separate conservation strategies in urban and agricultural contexts. Given their interdependence, addressing water use in both sectors is essential for achieving meaningful and lasting conservation outcomes. Agricultural water conservation relies on efficient irrigation practices, which depend on accurately determining soil field capacity (FC)--the amount of water soil can retain after excess …


Development Of A Qualitative Spot Assay For Zinc Detection In Fortified Cereal Grain Matrices, Ashley L. Lamborn Apr 2025

Development Of A Qualitative Spot Assay For Zinc Detection In Fortified Cereal Grain Matrices, Ashley L. Lamborn

Theses and Dissertations

The present thesis is a compilation of a literature review, journal manuscript, and two standard operating procedures (SOP) on the qualitative determination of zinc in fortified cereal grain products and matrices. The literature review addresses the premise of the research as well as potential solutions for the development of a rapid qualitative spot assay for zinc determination. Quality assurance assays affirm the presence of micronutrients in food fortification initiatives, but no rapid qualitative spot methods for the assessment of zinc currently exist. Chromogenic reagents that may perform a key role in the rapid determination of zinc are identified. The journal …


Analysis Of Nitrogen Accumulation And Gene Expression In Hydroponically-Grown Chenopodium Genotypes, Teal Kalt Apr 2025

Analysis Of Nitrogen Accumulation And Gene Expression In Hydroponically-Grown Chenopodium Genotypes, Teal Kalt

Theses and Dissertations

Nitrogen (N) is an essential macronutrient required by all plants to complete their life cycles. Inefficient N uptake contributes to over fertilization and subsequent environmental and sustainability issues resulting in the need for improved nitrogen use efficiency (NUE). Chenopodium quinoa is a resilient pseudocereal crop that is relatively adapted to N-deficient soils. Previous studies have uncovered the unique genetic structure of quinoa and its physiological responses to N availability; however, gaps remain in understanding its molecular mechanisms for NUE. This study investigates four quinoa genotypes (Real-1, 0654, KU-2, and QQ74) hydroponically grown in N-deficient conditions. RNA sequencing (RNA-seq) analysis identified …


Elucidating The Antibiofilm Characteristics Of A Carbon Infiltrated Carbon Nanotube Surface And A Copper-Coated Carbon Infiltrated Carbon Nanotube Surface, Lucy Christena Bowden Apr 2025

Elucidating The Antibiofilm Characteristics Of A Carbon Infiltrated Carbon Nanotube Surface And A Copper-Coated Carbon Infiltrated Carbon Nanotube Surface, Lucy Christena Bowden

Theses and Dissertations

Post-surgical implant-associated infections cause considerable patient morbidity and mortality. These infections are often caused by biofilm-forming bacteria such as Staphylococcus aureus and Pseudomonas aeruginosa. Bacterial biofilms are resistant to immune clearance and are a reservoir of antibiotic resistance. Implant materials that resist bacterial colonization may be able to improve patient outcomes. Carbon infiltrated carbon nanotubes (CICNT) are a potential surface modification for medical implants. The work presented in this dissertation focuses on characterizing the antibiofilm effect of the CICNT surface, better understanding its mechanism of action, and characterizing the enhanced antibiofilm effect of a copper-coated CICNT surface. S. aureus biofilms …


Increasing Diversity In The Genetic Counseling Profession: Determining Effective Career Education Strategies For Underrepresented Youth, Bryel Marie Frasch Apr 2025

Increasing Diversity In The Genetic Counseling Profession: Determining Effective Career Education Strategies For Underrepresented Youth, Bryel Marie Frasch

Theses and Dissertations

Genetic counseling is a professional career path that is lacking in diversity, and diversity in healthcare has been shown to improve health outcomes. Studies suggest student engagement as a way to increase diversity, as early knowledge of genetic counseling increases the likelihood of considering it as a career and is especially true for racial or ethnic minoritized students. This study focused on educating high school students underrepresented in genetic counseling about the career and exploring the effectiveness of two different types of education methods (video vs in-person) to give valuable information for future outreach efforts. Upward Bound and Federal TRIO …


The Effects Of Acute Nutrient Intake On Raw Segmental Bioelectrical Impedance Values And Fluid Shifts In Premenopausal Women, Callie Unrein Apr 2025

The Effects Of Acute Nutrient Intake On Raw Segmental Bioelectrical Impedance Values And Fluid Shifts In Premenopausal Women, Callie Unrein

Theses and Dissertations

Background: Raw bioimpedance measures—impedance (Z), resistance (R), reactance (Xc), and phase angle (PhA)—are emerging tools to assess hydration, cellular integrity, and muscle quality. While multifrequency bioimpedance analysis (MF-BIA) can detect acute physiological shifts, its sensitivity to nutrient intake, especially across hormonal phases in women, remains underexplored. Purpose: This study investigated how essential amino acids (EAA), carbohydrates (CHO), and water (CON) influence postprandial segmental bioimpedance and fluid distribution in healthy women, and whether these responses vary by menstrual hormone phase. Methods: Twenty-two recreationally active women (18–40 years) underwent serial MF-BIA (InBody 970) assessments during high- and low-hormone phases, randomized to one …


Newborn Screening For X-Linked Adrenoleukodystrophy: Experiences, Perspectives, And Future Directions For Genetic Counseling, Sophia Salvatore Apr 2025

Newborn Screening For X-Linked Adrenoleukodystrophy: Experiences, Perspectives, And Future Directions For Genetic Counseling, Sophia Salvatore

Theses and Dissertations

There is a notable lack of research regarding genetic counseling practices for infants with screen-positive results for X-linked adrenoleukodystrophy (X-ALD) via newborn screening (NBS). The exploratory study aimed to understand the experiences of genetic counselors providing follow-up care for these infants, assess the complexities associated with NBS for X-ALD, identify potential gaps in genetic counseling practices, and describe the subsequent impact on patient care. A mixed-methods approach was utilized, incorporating an initial survey and optional semi-structured interviews with practicing genetic counselors who had seen a minimum of five cases of infants with screen-positive results for X-ALD in the last two …


Genetics Education Booklets Designed For Individuals With Intellectual Disability: Perspectives From Adults With Intellectual Disability And Genetic Counselors, Audrey Hyun Sook Parrott Apr 2025

Genetics Education Booklets Designed For Individuals With Intellectual Disability: Perspectives From Adults With Intellectual Disability And Genetic Counselors, Audrey Hyun Sook Parrott

Theses and Dissertations

Visual aid tools have been consistently suggested across literature aimed at identifying methods of improving health and genetics services for individuals with intellectual disability (ID). Aids written in plain language are suggested most often. The study intends to gain perspectives from adults with ID (AWID) and genetic counselors (GCs) on Easy Read genetics educational booklets designed for individuals with mild ID. We anticipate that GCs will find the booklets to be useful and accurate, and that AWID will find the booklets to be helpful to their understanding and comprehensible. The AWID were assessed via a self-reported survey, cognitively adapted for …


An Exploratory Study Of Disclosure Of X-Linked Conditions Between Mothers And Daughters, Madge Isabella Stuhlreyer Apr 2025

An Exploratory Study Of Disclosure Of X-Linked Conditions Between Mothers And Daughters, Madge Isabella Stuhlreyer

Theses and Dissertations

Carriers of X-linked conditions, both asymptomatic and symptomatic, face unique challenges regarding their experiences navigating the healthcare system and understanding implications of their carrier status. Studies show that mothers are known to be the main communicators of genetic information within their families, but in families affected with X-linked conditions, communication between mothers and daughters are hindered by factors such as lack of knowledge about the condition and reproductive implications, lack of emotional support, anxiety, and uncertainty about how to initiate these conversations. The purpose of this study was to explore the motivations behind mothers' decisions to initiate conversations with their …


Investigation Of The Hdl Molecular Architecture Before And After Exercise Training., Prasun Kumar Dev Apr 2025

Investigation Of The Hdl Molecular Architecture Before And After Exercise Training., Prasun Kumar Dev

Theses and Dissertations

The functional characteristics of high-density lipoprotein (HDL) particles are influenced by their structure, including their molecular composition (e.g. HDL lipidome and proteome). However, the effects of exercise training on HDL molecular composition and its relationship with HDL-related traits are largely unknown. In this ancillary study, we investigated the HDL lipidome and proteome of 154 adults before and after 20 weeks of exercise training in the HERITAGE Family Study. The HDL-sized plasma fraction was isolated utilizing FPLC-SEC, followed by untargeted lipidomic and proteomic analysis using LC/MS. We identified 341 known lipid species while 409 HDL associated proteins. Clinical and functional related …


Barriers In Receiving A Diagnosis Of Sanfilippo Syndrome: Perceptions From Healthcare Providers And Caregivers, Cassidy Lena Apr 2025

Barriers In Receiving A Diagnosis Of Sanfilippo Syndrome: Perceptions From Healthcare Providers And Caregivers, Cassidy Lena

Theses and Dissertations

Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting neurological functioning, behavior, and quality of life. Diagnosis is often not made until three to six years of age, but comprehensive and effective symptom management have been reported to optimize patient longevity. The aim of this study was to identify barriers to diagnosis and the corresponding impact on patients. This study surveyed healthcare providers and caregivers of individuals with Sanfilippo syndrome. Both quantitative and qualitative methods were employed to assess provider knowledge and comfortability in managing Sanfilippo syndrome. Additionally, it explored caregiver perspectives on healthcare system navigation, …


The Association Between Parent’S Mobile Device Use And Physical Activity, Sydney Hill Apr 2025

The Association Between Parent’S Mobile Device Use And Physical Activity, Sydney Hill

Theses and Dissertations

Background. The rapid increase in mobile technology has allowed smartphones to be used almost anywhere, but a potential disadvantage of these mobile devices is the displacement of physical activity. Parents of young children are already struggling to reach higher intensities of physical activity and mobile devices might make this worse. However, most existing research on similar topics look at adults without children or uses subjective measures only. Therefore, this study aims to (1) quantify objective mobile device use from a sample of parents with preschool age children; (2) describe the duration and intensity of parents’ physical activity and inactive behavior; …


A Study To Identify The Causal Rare Genetic Variants In Primary Open And Closed Angle Glaucoma, Pseudoexfoliation Syndrome, And Associated Glaucoma, Suganya K Mar 2025

A Study To Identify The Causal Rare Genetic Variants In Primary Open And Closed Angle Glaucoma, Pseudoexfoliation Syndrome, And Associated Glaucoma, Suganya K

Theses and Dissertations

BACKGROUND: Glaucoma is the second most common cause of blindness globally typically diagnosed with a triad of clinical symptoms of increased intraocular pressure (IOP) with associated optic disc, optic nerve head (ONH) changes, and visual field defects. Genetic and environmental factors are some of the strong aetiology factors for glaucoma and identification of these factors has a potential implication in the management of the disease and its outcome. There is a paradigm shift towards understanding the genetics of glaucoma, wherein the variants in the nuclear, mitochondrial genome and other regulatory regions are being identified as contributing risk factors.

METHODOLOGY AND …


Characterizing The Effects Of Rage Upregulation In Lung Development, Derek Michael Clarke Mar 2025

Characterizing The Effects Of Rage Upregulation In Lung Development, Derek Michael Clarke

Theses and Dissertations

The Receptor for Advanced Glycation End-products (RAGE) is a transmembrane, multi-ligand cell surface receptor highly expressed in pulmonary tissue, where it plays a critical role in mediating inflammatory responses. Under chronic toxicant exposure, often associated with cigarette, e-cigarette, and diesel particulate, RAGE transitions from a protective to a deleterious state, contributing to pathological processes. In adult models, RAGE's role in the development of lung disease has been well studied, yet in the context of lung development RAGE has not been well studied with a small number of clinical papers finding increased levels of RAGE in bronchopulmonary dysplasia(BPD) and respiratory distress …


Transgenerational Impacts Of Covid-19: Exploring The Epigenetic Impacts Of Sars-Cov-2 Infection On Parental Reproductive Health And Offspring Development, Isaac Mckay Stirland Mar 2025

Transgenerational Impacts Of Covid-19: Exploring The Epigenetic Impacts Of Sars-Cov-2 Infection On Parental Reproductive Health And Offspring Development, Isaac Mckay Stirland

Theses and Dissertations

The mechanisms and consequences of SARS-CoV-2 infection, including clinical manifestations, immune response, pathogenicity, long-term sequelae, etc., have been studied in detail following the 2019 pandemic however, very little has been done to explore the interplay between SARS-CoV-2 and host DNA methylation. Given the role of DNA methylation in genetic regulation, genomic imprinting, and induction of transgenerational effects, an understanding of viral interaction(s) with the host methylome is imperative in promoting reproductive and developmental health. Numerous reports describe infections with similar pathogenicity to SARS-CoV-2 and their correlation to altered host tissues at the epigenetic, physiologic, and macroscopic level. These reported epigenetic …


Molecular Mechanisms Of Niemann-Pick Type C: Investigating Gene Expression, Lipid Metabolism, And Mitochondrial Dysfunction In Fibroblasts, Sarah Kim Feb 2025

Molecular Mechanisms Of Niemann-Pick Type C: Investigating Gene Expression, Lipid Metabolism, And Mitochondrial Dysfunction In Fibroblasts, Sarah Kim

Theses and Dissertations

Niemann-Pick Disease Type C (NPC) is a progressive lysosomal storage disorder characterized by the accumulation of lipids, particularly cholesterol, within cells, leading to severe neurological manifestations and developmental issues. This study employs RNA-seq to compare gene expression profiles between fibroblasts derived from a healthy individual and a patient with the NPC1 mutation. A total of 12,978 genes were analyzed, revealing 191 differentially expressed genes. Functional enrichment analysis disclosed significant associations with biological processes related to development, lipid metabolism, embryonic organ development, vascularization, and neuroinflammation. Additionally, the connection between mitochondrial function and lysosomal impairment was explored, revealing that NPC1 mutant fibroblasts …


The Role Of Non-Coding Rnas As An Innovative Therapeutic Tool For Hepatocellular Carcinoma, Nabila Mohamed Hosni El Kramani Feb 2025

The Role Of Non-Coding Rnas As An Innovative Therapeutic Tool For Hepatocellular Carcinoma, Nabila Mohamed Hosni El Kramani

Theses and Dissertations

Hepatocellular carcinoma (HCC) is the second lethal cancer worldwide, with over 60 million new patients added annually. Hepatitis B infection and toxins, e.g., aflatoxin, contribute to the incidence of HCC. Egypt and China show the highest prevalence of viral hepatitis and HCC in the world.

Long non-coding RNAs (lncRNAs) are non-protein-coding transcripts larger than 200 nucleotides. These transcripts work at the transcriptional, post-transcriptional, and epigenetic levels to regulate gene expression by interacting with various biomolecules, such as RNA, DNA, and proteins. They serve essential functions in chromatin remodeling and cell survival, differentiation, and proliferation. The role and biological interactions of …