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Articles 1891 - 1920 of 7399

Full-Text Articles in Cell and Developmental Biology

Intestinal Endothelial Cells Promote Hiv Latent Infection In Resting And Activated Cd4+ T-Cells, Nathan Dapprich, Jessica Eddy, Fisher Pham, Anding Shen Jan 2022

Intestinal Endothelial Cells Promote Hiv Latent Infection In Resting And Activated Cd4+ T-Cells, Nathan Dapprich, Jessica Eddy, Fisher Pham, Anding Shen

Summer Research

No abstract provided.

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Phosphatidylserine Externalization On Non-Apoptotic Cells And Lipid Scramblases In C. Elegans, Julia Frondoni Jan 2022

Phosphatidylserine Externalization On Non-Apoptotic Cells And Lipid Scramblases In C. Elegans, Julia Frondoni

Electronic Theses and Dissertations

Cell corpse clearance is key for animals to avoid inflammation and autoimmune disease. To better understand the “eat me” signal of phosphatidylserine (PS) exposure for non-apoptotic corpse clearance, we attempted to disrupt the externalization of PS on C. elegans polar bodies. The second polar body undergoes a non-apoptotic form of cell death, loses membrane integrity, externalizes PS and is cleared by embryonic cells during early development. During apoptotic and necrotic cell death, PS asymmetry is disrupted by lipid scramblases, which translocate phospholipids between the leaflets of the lipid bilayer. We found neither apoptotic nor necrotic scramblases are required for PS …

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Emerging Biomedical Applications Of The Vesicular Stomatitis Virus Glycoprotein, Sheeba Rehman, Suman Bishnoi, Rajarshi Roy, Anshu Kumari, Harikrishnan Jayakumar, Sharad Gupta, Parimal Kar, Asit K. Pattnaik, Bebasis Nayak Jan 2022

Emerging Biomedical Applications Of The Vesicular Stomatitis Virus Glycoprotein, Sheeba Rehman, Suman Bishnoi, Rajarshi Roy, Anshu Kumari, Harikrishnan Jayakumar, Sharad Gupta, Parimal Kar, Asit K. Pattnaik, Bebasis Nayak

School of Veterinary and Biomedical Sciences: Faculty Publications

Nanoparticles (NPs) made of metals, polymers, micelles, and liposomes are increasingly being used in various biomedical applications. However, most of these NPs are hazardous for long- and short-term use and hence have restricted biomedical applications. Therefore, naturally derived, biocompatible, and biodegradable nanoconstructs are being explored for such applications. Inspired by the biology of viruses, researchers are exploring the viral proteins that hold considerable promise in biomedical applications. The viral proteins are highly stable and further amenable to suit specific biological applications. Among various viral proteins, vesicular stomatitis virus glycoprotein (VSV-G) has emerged as one of the most versatile platforms for …

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Phip-Seq Reveals Autoantibodies For Ubiquitously Expressed Antigens In Viral Myocarditis, Mahima T. Rasquinha, Ninaad Lasrado, Erika M. Petro-Turnquist, Eric A. Weaver, Thiagarajan Venkataraman, Daniel R. Anderson, H. Benjamin Larman, Jay Reddy Jan 2022

Phip-Seq Reveals Autoantibodies For Ubiquitously Expressed Antigens In Viral Myocarditis, Mahima T. Rasquinha, Ninaad Lasrado, Erika M. Petro-Turnquist, Eric A. Weaver, Thiagarajan Venkataraman, Daniel R. Anderson, H. Benjamin Larman, Jay Reddy

School of Veterinary and Biomedical Sciences: Faculty Publications

Simple Summary: Myocarditis is the inflammation of the heart muscle, and viral infections are a common cause of this disease. Myocarditis in some patients can progress to dilated cardiomyopathy (DCM). The mouse model of coxsackievirus B3 (CVB3) is commonly used to understand this disease progression in DCM patients. In this paper, we have attempted to analyze antibodies for heart antigens that could be produced as a result of heart damage in animals infected with CVB3 using a technique called Phage ImmunoPrecipitation Sequencing (PhIP-Seq). The analyses led us to identify antibodies for several proteins that were not previously reported that may …

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The Electronic Structure Of Atoms: A New Approach, Jackson Ross, Krista Zogg, Katherine Selvaggio, Roger Dekock Jan 2022

The Electronic Structure Of Atoms: A New Approach, Jackson Ross, Krista Zogg, Katherine Selvaggio, Roger Dekock

Summer Research

No abstract provided.

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One Cell’S Trash Is Another Cell’S Treasure: The Role Of Exosomes In Stress Physiology Of The Brown Anole (Anolis Sagrei), Anna Kaza Jan 2022

One Cell’S Trash Is Another Cell’S Treasure: The Role Of Exosomes In Stress Physiology Of The Brown Anole (Anolis Sagrei), Anna Kaza

Honors Program Theses

Exosomes are a type of extracellular vesicle that is produced by cells through an endosomal pathway and secreted into bodily fluids. Exosomes deliver bioactive cargo from their parent cells to target cells as a form of intercellular communication. While most research has studied exosomes in the context of disease, less is known about their role in normal physiology when disease is absent. Using the brown anole (Anolis sagrei) as a model organism, we investigated how stress exposure affects exosome concentrations in the plasma of anoles, and whether exosome release is necessary for the response to stress. We hypothesized that stress …

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Investigation Of Nuclear Envelope-Associated Progeria Proteins During Nuclear Envelope Rupture, Rhiannon Marie Sears Jan 2022

Investigation Of Nuclear Envelope-Associated Progeria Proteins During Nuclear Envelope Rupture, Rhiannon Marie Sears

Dissertations and Theses

The nuclear envelope (NE) is a specialized extension of the endoplasmic reticulum critical for the proper protection and organization of the genome. This interphase-only structure is host to several proteins and their interacting constituents that have various and diverse cellular roles. Mutations in NE constituents are associated with several human diseases. A subset of these diseases, known as progeria syndromes, are characterized by the premature presentation of physiological aging in a variety of tissues. Mutations in the genes LMNA and BANF1, which encode the A-type lamins and barrier-to-autointegration factor (BAF), can lead to these multisystem progeroid diseases. Though the underlying …

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Serotonin's Proliferative Effects On Lung Cancer Cell Lines, Jessy K. Ntabo Jan 2022

Serotonin's Proliferative Effects On Lung Cancer Cell Lines, Jessy K. Ntabo

Honors Undergraduate Theses

Serotonin has been widely explored in the brain. Recently, there have been new findings on how serotonin works in the periphery. Serotonin is introduced to the periphery by the enterochromaffin cells and metabolized by the liver and lung. Studies have shown that serotonin plays a role in controlling lung cancer. However, the mechanism by which it initiates tumor formation has not been fully explored. Cell viability was measured in several lung adenocarcinoma cell lines treated with serotonin to study this effect. In GFP-labelled cells, fluorescence intensity was measured for quantification of cell viability. Our data showed an overall increase in …

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Cellular Activation Following Acute And Chronic Ethanol In Glutamatergic Projection Neurons, Annalise Hassan, Sam Gottlieb, Michael F. Miles Md, Phd Jan 2022

Cellular Activation Following Acute And Chronic Ethanol In Glutamatergic Projection Neurons, Annalise Hassan, Sam Gottlieb, Michael F. Miles Md, Phd

IRBEH/Spit for Science Publications and Presentations

No abstract provided.

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Phip Variants Associated With Chung–Jansen Syndrome Disrupt Replication Fork Stability And Genome Integrity, Neysha Tirado-Class, Caitlin Hathaway, Wendy K. Chung, Huzefa Dungrawala Jan 2022

Phip Variants Associated With Chung–Jansen Syndrome Disrupt Replication Fork Stability And Genome Integrity, Neysha Tirado-Class, Caitlin Hathaway, Wendy K. Chung, Huzefa Dungrawala

Molecular Biosciences Faculty Publications

Chung–Jansen syndrome (CJS) is a rare, autosomal dominant disorder characterized by developmental delay, intellectual disability/cognitive impairment, behavioral challenges, obesity, and dysmorphic features. CJS is associated with heterozygous variants in PHIP (Pleckstrin-Homology Interacting Protein), a gene that encodes one of several substrate receptors for Cullin4-RING (CRL4) E3 ubiquitin ligase complex. Full-length PHIP, also called DCAF14, was recently identified to function as a replication stress response protein. Herein, we report the identification of two PHIP missense variants identified by exome sequencing in unrelated individuals with CJS. The variants p.D488V and p.E963G occur in different functional elements of DCAF14-WD40 repeat domain and pleckstrin …

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Sequence Properties Of An Intramolecular Interaction That Inhibits P53 Dna Binding, Emily Gregory, Gary W. Daughdrill Jan 2022

Sequence Properties Of An Intramolecular Interaction That Inhibits P53 Dna Binding, Emily Gregory, Gary W. Daughdrill

Molecular Biosciences Faculty Publications

An intramolecular interaction between the p53 transactivation and DNA binding domains inhibits DNA binding. To study this autoinhibition, we used a fragment of p53, referred to as ND WT, containing the N-terminal transactivation domains (TAD1 and TAD2), a proline rich region (PRR), and the DNA binding domain (DBD). We mutated acidic, nonpolar, and aromatic amino acids in TAD2 to disrupt the interaction with DBD and measured the effects on DNA binding affinity at different ionic strengths using fluorescence anisotropy. We observed a large increase in DNA binding affinity for the mutants consistent with reduced autoinhibition. The ΔΔG between DBD and …

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Alternatively Spliced Csf3r In Human Health And Disease, Borwyn A. Wang Jan 2022

Alternatively Spliced Csf3r In Human Health And Disease, Borwyn A. Wang

Theses and Dissertations

Elevated alternative colony stimulating factor 3 receptor (CSF3R) isoforms are observed in myelodysplastic syndromes (MDS) and other myeloid neoplasms, but their role in driving disease progression has not been fully explained. In this study we report on the role of an MDS-associated splicing factor SRSF2 and its effects on the production of Class III and Class IV CSF3R isoforms and granulopoiesis. Class IV add-back in Csf3r-null mice showed impaired neutrophil differentiation with increased number of CFU-G, which largely consisted of metamyelocytes, while Class III showed greater dysgranulopoiesis accompanied by dysmorphic neutrophils. Alternative CSF3R isoforms were elevated in …

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Identifying Adaptor Proteins For Selective Mrna Export In S. Cerevisiae, Chloe Baker, Rebecca Adams Jan 2022

Identifying Adaptor Proteins For Selective Mrna Export In S. Cerevisiae, Chloe Baker, Rebecca Adams

Science University Research Symposium (SURS)

The export of mature mRNA from the nucleus of the cell to the cytoplasm is crucial for a cell’s survival, as this process is necessary to produce proteins encoded by these transcripts. In S. cerevisiae (yeast) cells, a protein known as Mex67 must bind to the mRNA while it’s in the nucleus so it can cross through the nuclear pore complex (NPC). Mex67 cannot bind to the mRNA directly, instead it needs to be accompanied by adaptor proteins to aid it in getting across the NPC. Stress conditions such as heat shock interferes with the function of these adaptor …

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Adenoviral-Vectored Centralized Consensus Hemagglutinin Vaccine Provides Broad Protection Against H2 Influenza A Virus, Erika M. Petro-Turnquist, Brianna L. Bullard, Matthew J. Pekarek, Eric A. Weaver Jan 2022

Adenoviral-Vectored Centralized Consensus Hemagglutinin Vaccine Provides Broad Protection Against H2 Influenza A Virus, Erika M. Petro-Turnquist, Brianna L. Bullard, Matthew J. Pekarek, Eric A. Weaver

Nebraska Center for Virology: Faculty Publications

Several influenza pandemics have occurred in the past century, one of which emerged in 1957 from a zoonotic transmission of H2N2 from an avian reservoir into humans. This pandemic caused 2–4 million deaths and circulated until 1968. Since the disappearance of H2N2 from human populations, there has been waning immunity against H2, and this subtype is not currently incorporated into seasonal vaccines. However, H2 influenza remains a pandemic threat due to consistent circulation in avian reservoirs. Here, we describe a method of pandemic preparedness by creating an adenoviral-vectored centralized consensus vaccine design against human H2 influenza. We also assessed the …

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The Application Of The Skin Virome For Human Identification, Ema H. Graham, Jennifer Clarke, Samodha Fernando, Joshua Herr, Michael Adamowicz Jan 2022

The Application Of The Skin Virome For Human Identification, Ema H. Graham, Jennifer Clarke, Samodha Fernando, Joshua Herr, Michael Adamowicz

Nebraska Center for Virology: Faculty Publications

The use of skin virome offers a unique approach for human identification purposes in instances where a viable and statistically relevant human DNA profile is unavailable. The skin virome may act as an alternative DNA profile and/or an additional form of probative genetic material. To date, no study has attempted to investigate the human virome over a time series across various physical locations of the body to identify its diagnostic potential as a tool for human identification. For this study, we set out to evaluate the stability, diversity, and individualization of the human skin virome. An additional goal was to …

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Functionalization Of Chitosan Based Microparticles For In Vitro 3d Culture Of Human Liver Cells, William Imes Jan 2022

Functionalization Of Chitosan Based Microparticles For In Vitro 3d Culture Of Human Liver Cells, William Imes

Williams Honors College, Honors Research Projects

Previous work involving 3D culture of human liver cells with fluorinated chitosan based microparticles has shown that their incorporation provides needed structural cues that the culture of cells alone does not provide, such as increased gas transport. However, using bare microparticles to grow large 3D cellular structures is not practical as they tend to collapse before any meaningful research can be done on them. It is proposed that this is because of the lack of extracellular matrix (ECM)components within pure cell culture in vitro, which in their absence cannot adequately facilitate biochemical communication and adhesion between cells. It is …

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Analysis Of Hematocrit Levels In Walleye Sander Vitreus From Similar Waterbodies, Alyssa Hauser Jan 2022

Analysis Of Hematocrit Levels In Walleye Sander Vitreus From Similar Waterbodies, Alyssa Hauser

Journal of Earth and Life Science

Walleye Sander vitreus are a popular fish among anglers and hold a prominent place in Minnesotan’s identity as their state fish. Because of this, multiple management practices are used to ensure the continued health of their populations within Minnesota waters. In this study, the process of analyzing hematocrit levels was used to determine if the analysis of hematological parameters could be a useful tool in detecting differences in population health. To evaluate this, blood samples were acquired from age-0 and age-1 fish from two similar lakes and run through a hematocrit centrifuge to separate platelets from plasma to read the …

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A Novel Drug To Induce Apoptosis In Advanced Prostate Cancer Cells, Parshva A. Sanghvi Jan 2022

A Novel Drug To Induce Apoptosis In Advanced Prostate Cancer Cells, Parshva A. Sanghvi

Honors Undergraduate Theses

Prostate cancer is one of the leading causes of death for men in America as approximately 1 in 41 men will have prostate cancer. In this research, we focus on enzalutamide-resistant prostate cancer cells as cell resistance to enzalutamide is a prevalent obstacle in treating prostate cancer. We tested a novel compound library at different doses and observed each compound's efficacy in inducing apoptosis in enzalutamide-resistant cells. Furthermore, we analyzed the mechanism by which apoptosis was induced in compounds that showed a high efficacy at lower doses. Overall, we found that Darapladib shows promising results in treating cells that have …

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The Effect Of Ethanol On Cellular Movements And Development In C. Elegans, Caitlin N. O'Connor Jan 2022

The Effect Of Ethanol On Cellular Movements And Development In C. Elegans, Caitlin N. O'Connor

West Chester University Master’s Theses

Neural tube development, which gives rise to the central nervous system, is vital to embryonic development. Neural tube defects, like spina bifida, are serious and common congenital defects which can result in life-long medical complications. Folic acid has been used as a preventative measure for neural tube defects and has appeared to decrease the occurrences of neural tube defects. However, the mechanism behind folic acid’s role in neural tube development is unclear. Furthermore, some evidence suggests that ethanol decreases the levels of folates and folate coenzymes in the fetal brain and downregulates folic acid metabolism genes. To better understand the …

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Deciphering The Role And Clinical Application Of The Fgfr4-Klb-Fgf19 Axis In Colorectal Neoplastic Progression, Michael Rohr Jan 2022

Deciphering The Role And Clinical Application Of The Fgfr4-Klb-Fgf19 Axis In Colorectal Neoplastic Progression, Michael Rohr

Electronic Theses and Dissertations, 2020-2023

Colorectal cancer (CRC) is the third most common and third deadliest cancer worldwide with rising incidence rates attributed to environmental risk factors like diet. Investigating how these factors impact carcinogenesis requires an understanding of how transcriptional events evolve with respect to neoplastic progression. We employed meta-transcriptomics and latent trajectory modeling to establish a compendium of profiled healthy, adenoma, and CRC samples scored by their position along a pseudotemporal axis. By interpolating a continuous scale from cross-sectional data, dynamic processes occurring throughout disease progression can be analyzed more accurately. For example, smaller pseudotimes represented pre-malignant dysplasia and was characterized by cellular …

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In Vivo Metabolic Analysis Of The Anticancer Effects Of Plasma-Activated Saline In Three Tumor Animal Models, Miao Qi, Dehui Xu, Shuai Wang, Bing Li, Sansan Peng, Qiaosong Li, Hao Zhang, Runze Fan, Hai-Lan Chen, Michael G. Kong Jan 2022

In Vivo Metabolic Analysis Of The Anticancer Effects Of Plasma-Activated Saline In Three Tumor Animal Models, Miao Qi, Dehui Xu, Shuai Wang, Bing Li, Sansan Peng, Qiaosong Li, Hao Zhang, Runze Fan, Hai-Lan Chen, Michael G. Kong

Bioelectrics Publications

In recent years, the emerging technology of cold atmospheric pressure plasma (CAP) has grown rapidly along with the many medical applications of cold plasma (e.g., cancer, skin disease, tissue repair, etc.). Plasma-activated liquids (e.g., culture media, water, or normal saline, previously exposed to plasma) are being studied as cancer treatments, and due to their advantages, many researchers prefer plasma-activated liquids as an alternative to CAP in the treatment of cancer. In this study, we showed that plasma-activated-saline (PAS) treatment significantly inhibited tumor growth, as compared with saline, in melanoma, and a low-pH environment had little effect on tumor growth in …

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Modeling Jadera Haematoloma’S Phenotypic Variation In The Context Of Its Developmental Plasticity, Michael C. Yorsz Jan 2022

Modeling Jadera Haematoloma’S Phenotypic Variation In The Context Of Its Developmental Plasticity, Michael C. Yorsz

Honors Theses

Phenotypic plasticity is the ability of an organism to integrate information from environmental cues to inform the development of its phenotype and remains understudied in biology. Models of plasticity are needed because evolution in the presence of plasticity is poorly understood. Jadera haematoloma, a hemimetabolous true bug, is an excellent animal model of plasticity, exhibiting a non-linear plastic response to juvenile nutrition that biases adult development into groups with differences in flight capability, wing shape, and fecundity. However, there is a lack of literature consensus regarding the range of developmental outcomes in the species. Some publications report the presence …

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The Role Of Irf-1 In Spontaneous Mouse Glioma, Aakash B. Vaidya Jan 2022

The Role Of Irf-1 In Spontaneous Mouse Glioma, Aakash B. Vaidya

Theses and Dissertations

Glioblastoma Multiforme has been shown to be one of the deadliest primary brain cancers. One of the reasons why GBM is so deadly, is a unique immunosuppressive tumor microenvironment that promotes GBM growth and progression. Both astrocyte and microglia have been implicated in immunosuppression. In this study, we explored the role of Interferon Regulatory Factor 1 (IRF-1) in astrocytes and glioma cells on the growth of spontaneous glioma tumors. IRF-1 is regulated by the JAK/STAT pathway and induces expression of Programmed death ligand 1 (PD-L1). PD-L1 downregulates immune responses to glioma. We found that IRF-1 had no effect on spontaneous …

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The Role Of Glis3 In Zebrafish Endocrine Development And Regeneration, Tasha Swenney Jan 2022

The Role Of Glis3 In Zebrafish Endocrine Development And Regeneration, Tasha Swenney

Murray State Theses and Dissertations

Maintenance of proper blood glucose homeostasis is governed by the endocrine cells of the pancreas. Dysregulation of blood glucose is characteristic of the disease, diabetes mellitus. Relatively little is known about the molecular mechanisms that underlie diabetes. The genes associated with more common forms of diabetes remain more enigmatic and likely have less direct roles in blood glucose homeostasis such as glucose sensing, insulin secretion, and β cell maintenance. GLIS3, a transcription factor involved in pancreatic development as well as the transcriptional regulation of insulin has been identified as a risk locus for type 1 and type 2 diabetes …

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Characterizing The Lir Domain Of Abin1 And Identifying Its Role As A Regulator Of Mitophagy, Andrew Rhiner Jan 2022

Characterizing The Lir Domain Of Abin1 And Identifying Its Role As A Regulator Of Mitophagy, Andrew Rhiner

Electronic Theses and Dissertations

A20 Inhibitor of NF-κB (ABIN1/TNIP1) is a known regulator of TNFα signaling induced cell death and inflammation. The regulatory activity has been attributed to ABIN1’s recruitment of the ubiquitin editing enzyme TNF-α-induced protein 3 (TNFAIP3/A20) to Receptor-interacting serine/threonine-protein kinase 1 (RIPK1). The regulation of RIPK1 by ABIN1 and A20 relies on a third player, linear ubiquitin chain assembly complex (LUBAC), which is involved in the recruitment of ABIN1 to RIPK1. Loss of LUBAC or ABIN1 is embryonic lethal, but loss of A20 is not embryonic lethal. The embryonic lethality due to loss of ABIN1, paired with the lack of lethality …

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Targeting The Bcl6 Transcription Factor In Ovarian Cancer, Harrison H. Parent Jan 2022

Targeting The Bcl6 Transcription Factor In Ovarian Cancer, Harrison H. Parent

Honors Theses and Capstones

Ovarian cancer is one of the most common reproductive malignancies for women in the United States, as well as one of the deadliest. Many deaths attributed to ovarian cancer, as well as cancer generally, are due to metastasis of the original tumor to different tissues throughout the body. The BCL6 transcription factor has been identified to play a key role in the metastasis of these tumors, as well as the invasion of these cancer cells through mesothelial cell layers, which contributes to ovarian cancer’s unique metastatic behavior. In an attempt to target these metastases and prevent mesothelial penetration, drugs were …

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Salivary Gland Stromal Heterogeneity And Epithelial Controls, Nicholas L. Moskwa Jan 2022

Salivary Gland Stromal Heterogeneity And Epithelial Controls, Nicholas L. Moskwa

Legacy Theses & Dissertations (2009 - 2024)

Organogenesis is the process organs go through where cellular communications coordinate all a developing organ needs. What organs need are more cells, in the right place, doing the right job. In the salivary gland, we know that stromal cells are important for organogenesis and that they coordinate the epithelium’s form and functions. However, specific stromal contributions have focused on epithelial quantity and placement. There is less information about how the stroma directs the epithelium towards certain functions. Here we used organoids as a model for understanding what stromal signaling directs epithelial cell fate. We found that stromal cell state is …

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Mechanisms Underlying Pre- And Postnatal Development Of The Mouse Vomeronasal Organ, Raghu Ram Katreddi Jan 2022

Mechanisms Underlying Pre- And Postnatal Development Of The Mouse Vomeronasal Organ, Raghu Ram Katreddi

Legacy Theses & Dissertations (2009 - 2024)

The Vomeronasal organ (VNO) is a specialized olfactory sensory organ located in the ventral region of the nasal cavity in rodents. The vomeronasal epithelium (VNE) of rodents is composed of 2 major types of vomeronasal sensory neurons (VSNs): 1) VSNs distributed in the apical VNE regions that express vomeronasal type-1 receptors (V1Rs) and the G protein subunit Gi2, and 2) VSNs in the basal territories of the VNE that express vomeronasal type-2 receptors (V2Rs) and the G subunit Go. Besides these two neuronal types, VNE also accommodate a third non-neuronal cell type called Sustentacular cells that lie anatomically above apical …

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Genetic Regulation Within Cellular Stress Response Pathways, Jhos M. Dufflart Jan 2022

Genetic Regulation Within Cellular Stress Response Pathways, Jhos M. Dufflart

Legacy Theses & Dissertations (2009 - 2024)

Cellular stress is something that a cell deals with on a regular basis. Fortunately, there are several different mechanisms that are set in place in order to deal with them. Depending on the stress present in the cell there will be different stress response pathways that are activated in order to mitigate the stress or initiate cellular death mechanisms. Transcription factors (TFs) are key components within these pathways, and this will be the focus of this thesis. TFs within mammalian stress response pathways are tasked with the essential regulation of multiple genes within these pathways and are oftentimes linked with …

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Exploring The Roles Of Stress, Codon Usage, And Rna Modifications In Myotonic Dystrophy Type 1, Afrooz Golestanian Jan 2022

Exploring The Roles Of Stress, Codon Usage, And Rna Modifications In Myotonic Dystrophy Type 1, Afrooz Golestanian

Legacy Theses & Dissertations (2009 - 2024)

Myotonic dystrophy (DM), the most common form of muscular dystrophy, is a neuromuscular disease caused by microsatellite repeat expansions. It can represent a multi-systemic autosomal dominant disease with DM1 and DM2 subtypes. A cytosine-thymine-guanine (CTG) triplet repeat in the 3’ untranslated region (3’UTR) of myotonic dystrophy protein kinase (DMPK) gene causes DM1 disease, which leads to the production of a longer, abnormal and toxic mRNA. The toxic DMPK mRNA sequester the splicing proteins such as Muscle blind-like (MBNL) and rbFOX which leads to gene expression alteration. Repeat associated non-AUG (RAN) translation also occurs in DM1. Mitochondrial dysregulation has also been …

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