Infection And Transmission Determinants Of Flea-Borne Rickettsioses, 2022 University of South Alabama
Infection And Transmission Determinants Of Flea-Borne Rickettsioses, Hanna J. Laukaitis
Theses and Dissertations
The genus Rickettsia is comprised of Gram-negative, obligate intracellular bacteria that are spread by hematophagous arthropods. Elucidating the factors conferring rickettsial virulence has perplexed investigators for decades, complicated by the lack of efficient genetic tools necessary to uncover rickettsial- and vector-specific factors contributing to persistence. The advent of transposon mutagenesis has enabled the field to make vast developments in uncovering novel rickettsial mechanisms utilized in various host backgrounds. Thus, the aim of this study was to generate Rickettsia felis transposon mutants and characterize novel phenotypes associated with genetic disruption in an arthropod background. Distribution of rickettsiae is reliant on the ...
Identification Of Healthspan-Promoting Genes In Caenorhabditis Elegans Based On A Human Gwas Study, 2022 The University of Texas Rio Grande Valley
Identification Of Healthspan-Promoting Genes In Caenorhabditis Elegans Based On A Human Gwas Study, Nadine Saul, Ineke Dhondt, Mikko Kuokkanen, Markus Perola, Clara Verschuuren, Brecht Wouters, Henrik Von Chrzanowski, Winnok H. De Vos, Liesbet Temmerman, Walter Luyten
School of Medicine Publications and Presentations
To find drivers of healthy ageing, a genome-wide association study (GWAS) was performed in healthy and unhealthy older individuals. Healthy individuals were defined as free from cardiovascular disease, stroke, heart failure, major adverse cardiovascular event, diabetes, dementia, cancer, chronic obstructive pulmonary disease (COPD), asthma, rheumatism, Crohn’s disease, malabsorption or kidney disease. Six single nucleotide polymorphisms (SNPs) with unknown function associated with ten human genes were identified as candidate healthspan markers. Thirteen homologous or closely related genes were selected in the model organism C. elegans for evaluating healthspan after targeted RNAi-mediated knockdown using pathogen resistance, muscle integrity, chemotaxis index and ...
Leveraging Single Cell Technologies For The Characterization And Treatment Of Refractory Pancreatic Cancer, 2022 The Texas Medical Center Library
Leveraging Single Cell Technologies For The Characterization And Treatment Of Refractory Pancreatic Cancer, Maria Monberg
The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)
Heterogeneity is a hallmark of cancer, and the advent of multimodal single-cell technologies has helped uncover heterogeneity in a high-throughput manner in different cancers across varied contexts at an unprecedented resolution. In an effort to improve precision medicine approaches in pancreatic ductal adenocarcinoma (PDAC), a highly lethal malignancy with a mere 11% 5-year survival rate, this dissertation focuses on first questioning the assumptions of the most basic models used to study PDAC via multimodal single-cell characterization methods at multiple levels of biological organization (scCNVseq and snATACseq for DNA assays, scRNAseq for transcriptomics, and paired protein assays such as multiplexed immunofluorescence ...
Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, 2022 University of Maine
Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons
Electronic Theses and Dissertations
Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations ...
How Environmental Change Will Impact Mosquito-Borne Diseases, 2022 The University of San Francisco
How Environmental Change Will Impact Mosquito-Borne Diseases, Arsal Khan
Master's Projects and Capstones
Mosquitos, the most lethal species throughout human history, are the most prevalent source of vector-borne diseases and therefore a major global health burden. Mosquito-borne disease incidence is expected to shift with environmental change. These changes can be predicted using species distribution models. With the wide variety of methods used for models, consensus for improving accuracy and comparability is needed. A comparative analysis of three recent modeling approaches revealed that integrating modeling techniques compensates for trade-offs associated with a singular approach. An area that represents a critical gap in our ability to predict mosquito behavior in response to changing climate factors ...
Genetic Origins Of Polycystic Ovarian Syndrome (Pcos): An Analysis Of The Genetic Correlation Between Pcos And Insulin Receptor Mutations, Lauren Henry
Polycystic Ovarian Syndrome (PCOS) remains an extremely common, yet understudied syndrome experienced by 6-12% of females of reproductive age. Not only does it cause painful side effects manifesting both physically and mentally, but it also poses a threat to the fertility of those affected. For this reason, a more in-depth analysis to better understand how to detect this condition early and prevent fertility complications later is certainly warranted. PCOS is suspected to be primarily genetic due to correlations among immediate female family members. Based on previous research, a good starting point for analysis is the INSR gene. Various mutations within ...
The Use Of Embark In Teaching About Genetic Relatedness, 2022 University of Mississippi
The Use Of Embark In Teaching About Genetic Relatedness, Anna Bonvillain, Tori Trammel
Because of the increasing importance of precision medicine, it is vital that future healthcare providers master concepts related to genetic variation taught during their undergraduate classes. However, studies have shown that physicians often lack an adequate understanding of genetics, which serves as a hindrance to effectively caring for their patients. To address this issue, we created a collaborative active-learning protocol to improve pre-health students' comprehension of key concepts such as genetic relatedness and the source of genetic variation between siblings. Our worksheet guides students to compare the genetic profiles of two canine siblings using the Embark DNA genotyping platform. Embark ...
Bacteriophages: Paving The Road For The Future Of Medicine, 2022 Ouachita Baptist University
Bacteriophages: Paving The Road For The Future Of Medicine, Luke Brinkerhoff
Scholars Day Conference
Antibiotics will not be used forever by society due to antibiotic resistance. By the year 2050, it is predicted to have caused millions of casualties throughout the world. Thankfully, bacteriophages and phage therapy could be a potential solution to this problem.
Mendelian Randomization Supports Bidirectional Causality Between Telomere Length And Clonal Hematopoiesis Of Indeterminate Potential, 2022 The University of Texas Rio Grande Valley
Mendelian Randomization Supports Bidirectional Causality Between Telomere Length And Clonal Hematopoiesis Of Indeterminate Potential, Tetsushi Nakao, Alexander G. Bick, Margaret A. Taub, Seyedeh M. Zekavat, Md M. Uddin, Abhishek Niroula, Juan M. Peralta, Joanne E. Curran, John Blangero
School of Medicine Publications and Presentations
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion of hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy and CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus for CHIP in genome-wide association studies. Here, we investigated the relationship between CHIP, LTL, and CAD in the Trans-Omics for Precision Medicine (TOPMed) program (n = 63,302) and UK Biobank (n = 47,080). Bidirectional Mendelian randomization studies were consistent ...
Determining The Genomic Localization And Binding Partners Of Zinc Finger Protein 410, 2022 Liberty University
Determining The Genomic Localization And Binding Partners Of Zinc Finger Protein 410, Mariko Locke
Senior Honors Theses
The results of a folate deficiency study affecting cognition in mice suggested the altered genes may be controlled by a transcription factor known as Zinc Finger Protein 410 (Zfp410). Due to a lack of literature on Zfp410’s interacting proteins and DNA-binding location, our study aims to further elucidate the role Zfp410 plays in affecting cognition. A custom antibody was used to determine the Zfp410 isoforms present in mouse and rat brains. Moreover, the antibody was used to determine the binding partners of Zfp410 in the brain and locate specific genomic regions/sequences with which it associates in vivo. These ...
Vitamin C Reduces Igf-1 And Vegf Signaling In Retinal Endothelial Cells, 2022 Roseman University of Health Sciences
Vitamin C Reduces Igf-1 And Vegf Signaling In Retinal Endothelial Cells, Jonathon Reynolds
Annual Research Symposium
No abstract provided.
The Seventh International Rasopathies Symposium: Pathways To A Cure—Expanding Knowledge, Enhancing Research, And Therapeutic Discovery, 2022 The University of Texas Rio Grande Valley
The Seventh International Rasopathies Symposium: Pathways To A Cure—Expanding Knowledge, Enhancing Research, And Therapeutic Discovery, Maria I. Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E. Axelrad, Annette Bakker, Alejandro Lopez-Juarez
Health & Biomedical Sciences Faculty Publications and Presentations
RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate ...
Differential Microrna Expression In Glioblastoma As A Therapeutic Target Or Potential Biomarker, 2022 Cedarville University
Differential Microrna Expression In Glioblastoma As A Therapeutic Target Or Potential Biomarker, Drew Hines, Levi Marcum, Aubrey Strong, Ryan Wade
Channels: Where Disciplines Meet
MicroRNA (miRNA) is an epigenetic factor that plays an important role in the post-transcriptional regulation of gene and protein expression. Recent research has shown that in many types of cancer, differentially expressed levels of certain types of miRNA are significantly correlated with the transformation of and ongoing issues caused by cancer cells. Specifically, in Glioblastoma, one of the most lethal and aggressive human cancers, differential levels of miRNAs contribute to the cell’s lack of pro-apoptotic gene presence and its high resistance to current treatments. Results from current studies could provide information about which microRNAs are differentially expressed in glioblastoma ...
Gene Electrotransfer Of Fgf2 Enhances Collagen Scaffold Biocompatibility, 2022 Old Dominion University
Gene Electrotransfer Of Fgf2 Enhances Collagen Scaffold Biocompatibility, Carly Boye, Kyle Cristensen, Kamal Asadipour, Scott Declemente, Michael Francis, Anna Bulysheva
Electrical & Computer Engineering Faculty Publications
Tendon injuries are a common athletic injury that have been increasing in prevalence. While there are current clinical treatments for tendon injuries, they have relatively long recovery times and often do not restore native function of the tendon. In the current study, gene electrotransfer (GET) parameters for delivery to the skin were optimized with monophasic and biphasic pulses with reporter and effector genes towards optimizing underlying tendon healing. Tissue twitching and damage, as well as gene expression and distribution were evaluated. Bioprinted collagen scaffolds, mimicking healthy tendon structure were then implanted subcutaneously for biocompatibility and angiogenesis analyses when combined with ...
A Family With Neuropathies And An Mfn2 Variant, 2022 University of Vermont
A Family With Neuropathies And An Mfn2 Variant, Leah Miller
Larner College of Medicine Fourth Year Advanced Integration Teaching/Scholarly Projects
BACKGROUND: The axonal subtype of Charcot-Marie-Tooth (CMT2A) is commonly caused by dominant mutations in MFN2, which encodes a protein involved in mitochondrial dynamics and axonal transport. Over 100 variants in MFN2 are reportedly pathogenic. MFN2 dysfunction yields heterogenous neuropathies which can include optic atrophy, dysautonomia and diaphragmatic/airway dysfunction.
CASE REPORT: A 52-year-old man presented with a 10-year history of burning forefoot dysthesias and orthostasis. His examination revealed reduced sensation to light touch and pinprick distally with preserved strength and reflexes. NCS/EMG demonstrated mild, symmetric axonal polyneuropathy. Autonomic testing revealed orthostatic tachycardia and postganglionic sudomotor dysfunction. Laboratory evaluation for ...
Reduction Of Plasmid Vector Backbone Length Enhances Reporter Gene Expression, 2022 Old Dominion University
Reduction Of Plasmid Vector Backbone Length Enhances Reporter Gene Expression, Carly Boye, Sezgi Arpag, Michael Francis, Scott Declemente, Aislin West, Richard Heller, Anna Bulysheva
Electrical & Computer Engineering Faculty Publications
Gene therapy has a wide range of applications for various types of pathologies. Viral methods of gene delivery provide high levels of gene expression but have various safety concerns. Non-viral methods are largely known to provide lower levels of expression. We aim to address this issue by using plasmid DNA with smaller backbones to increase gene expression levels when delivered using non-viral methods. In this study we compare gene expression levels between two vectors with firefly luciferase encoding gene insert using liposome complexes and gene electrotransfer as delivery methods. A 2-fold reduction in plasmid vector backbone size, disproportionately enhanced gene ...
How Opportune Is Multigene Testing In Metastatic Colorectal Cancer? A Review, 2021 CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY, FACULTY OF GENERAL MEDICINE, DEPARTMENT OF ONCOLOGY, BUCHAREST, ROMANIA
How Opportune Is Multigene Testing In Metastatic Colorectal Cancer? A Review, Cristina Orlov-Slavu, Andreea Parosanu, Mihaela Olaru, Dragos Serban, Ioana Paunica, Cornelia Nitipir
Journal of Mind and Medical Sciences
Personalized treatment in oncology is the most innovative method of care. The best method to establish personalized treatment is by genetic characterization of the malignant cell.
Theoretically, the more detailed the characterization, the more effective the choice of treatment becomes. Currently, there are fast and relatively low-cost options that allow such genetic characterization. However, test results sometimes do not detect targetable alterations and, even if they do detect, the use of the treatment-alteration combination does not always generate a satisfactory oncological response.
The present paper aims to answer two questions. First, how targetable can the most common gene alterations in ...
The Onset Of Exercise-Associated Hyponatremia And Individual Differences In Inappropriate Arginine Vasopressin Excretion: A Review Of Proposed Mechanisms, Michelle Stehman, Stephen A. Maris
Topics in Exercise Science and Kinesiology
Topics in Exercise Science and Kinesiology Volume 2: Issue 1, Article 10, 2021. Exercise-associated hyponatremia (EAH) has been reported to develop during endurance events such as triathlons and marathons. As these events become more popular, the incidence of developing EAH also increases. The development of EAH is commonly associated with the overconsumption of hypotonic fluids such as water and tends to be more prevalent in females. There is also evidence to suggest the inappropriate secretion of arginine vasopressin (AVP) leading to water retention may predispose an individual for developing EAH, especially when coupled with the overconsumption of fluids. Recent research ...
Whole Genome Sequence Analysis Of Platelet Traits In The Nhlbi Trans-Omics For Precision Medicine Initiative, 2021 The University of Texas Rio Grande Valley
Whole Genome Sequence Analysis Of Platelet Traits In The Nhlbi Trans-Omics For Precision Medicine Initiative, Amarise Little, Yao Hu, Quan Sun, Deepti Jain, Jai G. Broome, Ming-Huei Chen, Florian Thibord, Caitlin Mchugh, John Blangero, Joanne E. Curran
School of Medicine Publications and Presentations
Platelets play a key role in thrombosis and hemostasis. Platelet count (PLT) and mean platelet volume (MPV) are highly heritable quantitative traits, with hundreds of genetic signals previously identified, mostly in European ancestry populations. We here utilize whole genome sequencing from NHLBI's Trans-Omics for Precision Medicine Initiative (TOPMed) in a large multi-ethnic sample to further explore common and rare variation contributing to PLT (n = 61 200) and MPV (n = 23 485). We identified and replicated secondary signals at MPL (rs532784633) and PECAM1 (rs73345162), both more common in African ancestry populations. We also observed rare variation in Mendelian platelet related ...
Investigating Gene-Environment Interaction In A Double-Hit Model For Autism Spectrum Disorder, 2021 Western University
Investigating Gene-Environment Interaction In A Double-Hit Model For Autism Spectrum Disorder, Melvin Maroon
Undergraduate Student Research Internships Conference
With the exponential advancements seen in the field of sequencing technology, the science community has come to identify hundreds of potential genetic risk factors for neuropsychiatric disorders. Despite our knowledge that such risk factors exist, we have yet to understand their specific influences on the behavioral profile of an individual. In addition, maternal infection during pregnancy can have longstanding detrimental outcomes on a child’s development. This is especially impactful with the present threat of viral infection during the pandemic. Our study aims to understand the influence of a specific genetic and environmental factor on a preclinical rodent model’s ...