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Increased Mitochondrial Activity Upon Catsper Channel Activation Is Required For Mouse Sperm Capacitation, Juan J Ferreira, Adriana Cassina, Pilar Irigoyen, Mariana Ford, Santiago Pietroroia, Nikita Peramsetty, Rafael Radi, Celia M Santi, Rossana Sapiro Dec 2021

Increased Mitochondrial Activity Upon Catsper Channel Activation Is Required For Mouse Sperm Capacitation, Juan J Ferreira, Adriana Cassina, Pilar Irigoyen, Mariana Ford, Santiago Pietroroia, Nikita Peramsetty, Rafael Radi, Celia M Santi, Rossana Sapiro

2020-Current year OA Pubs

To fertilize an oocyte, sperm must undergo several biochemical and functional changes known as capacitation. A key event in capacitation is calcium influx through the cation channel of sperm (CatSper). However, the molecular mechanisms of capacitation downstream of this calcium influx are not completely understood. Capacitation is also associated with an increase in mitochondrial oxygen consumption, and several lines of evidence indicate that regulated calcium entry into mitochondria increases the efficiency of oxidative respiration. Thus, we hypothesized that calcium influx through CatSper during capacitation increases mitochondrial calcium concentration and mitochondrial efficiency and thereby contributes to sperm hyperactivation and fertilization capacity. …


Confidence Interval For The Mean Of A Beta Distribution, Sean Rangel Dec 2021

Confidence Interval For The Mean Of A Beta Distribution, Sean Rangel

Electronic Theses and Dissertations

Statistical inference for the mean of a beta distribution has become increasingly popular in various fields of academic research. In this study, we developed a novel statistical model from likelihood-based techniques to evaluate various confidence interval techniques for the mean of a beta distribution. Simulation studies will be implemented to compare the performance of the confidence intervals. In addition to the development and study involving confidence intervals, we will also apply the confidence intervals to real biological data that was gathered by the Department of Biology at Stephen F. Austin State University and provide recommendations on the best practice.


Independently Validated Sex-Specific Nomograms For Predicting Survival In Patients With Newly Diagnosed Glioblastoma: Nrg Oncology Rtog 0525 And 0825, Minesh Mehta Dec 2021

Independently Validated Sex-Specific Nomograms For Predicting Survival In Patients With Newly Diagnosed Glioblastoma: Nrg Oncology Rtog 0525 And 0825, Minesh Mehta

All Publications

No abstract provided.


The Philosophy Of Outliers: Reintegrating Rare Events Into Biological Science, Chelsea N. Cook, Angela R. Freeman, James C. Liao, Lisa A. Mangiamele Dec 2021

The Philosophy Of Outliers: Reintegrating Rare Events Into Biological Science, Chelsea N. Cook, Angela R. Freeman, James C. Liao, Lisa A. Mangiamele

Biological Sciences: Faculty Publications

Individual variation in morphology, physiology, and behavior has been a topic of great interest in the biological sciences.While scientists realize the importance of understanding diversity in individual phenotypes, historically the minority results (i.e., outlier observations or rare events) of any given experiment have been dismissed from further analysis. We need to reframe how we view outliers to improve our understanding of biology. These rare events are often treated as problematic or spurious, when they can be real rare events or individuals driving evolution in a population. It is our perspective that to understand what outliers can tell us in our …


Illinois State University, One Hundred And Sixty-Second Annual Commencement, December 2021, Illinois State University Dec 2021

Illinois State University, One Hundred And Sixty-Second Annual Commencement, December 2021, Illinois State University

Commencement Programs

Illinois State University
One Hundred and Sixty-Second Annual Commencement
December 2021


Patient-Derived Ipscs Link Elevated Mitochondrial Respiratory Complex I Function To Osteosarcoma In Rothmund-Thomson Syndrome, Brittany E Jewell, An Xu, Dandan Zhu, Mo-Fan Huang, Linchao Lu, Mo Liu, Erica L Underwood, Jun Hyoung Park, Huihui Fan, Julian A Gingold, Ruoji Zhou, Jian Tu, Zijun Huo, Ying Liu, Weidong Jin, Yi-Hung Chen, Yitian Xu, Shu-Hsia Chen, Nino Rainusso, Nathaniel K Berg, Danielle A Bazer, Christopher Vellano, Philip Jones, Holger K Eltzschig, Zhongming Zhao, Benny Abraham Kaipparettu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee Dec 2021

Patient-Derived Ipscs Link Elevated Mitochondrial Respiratory Complex I Function To Osteosarcoma In Rothmund-Thomson Syndrome, Brittany E Jewell, An Xu, Dandan Zhu, Mo-Fan Huang, Linchao Lu, Mo Liu, Erica L Underwood, Jun Hyoung Park, Huihui Fan, Julian A Gingold, Ruoji Zhou, Jian Tu, Zijun Huo, Ying Liu, Weidong Jin, Yi-Hung Chen, Yitian Xu, Shu-Hsia Chen, Nino Rainusso, Nathaniel K Berg, Danielle A Bazer, Christopher Vellano, Philip Jones, Holger K Eltzschig, Zhongming Zhao, Benny Abraham Kaipparettu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee

Faculty, Staff and Student Publications

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 pathogenic variants have multiple skeletal anomalies and a significantly increased incidence of osteosarcoma. Here, we generated RTS patient-derived induced pluripotent stem cells (iPSCs) to dissect the pathological signaling leading to RTS patient-associated osteosarcoma. RTS iPSC-derived osteoblasts showed defective osteogenic differentiation and gain of in vitro tumorigenic ability. Transcriptome analysis of RTS osteoblasts validated decreased bone morphogenesis while revealing aberrantly upregulated mitochondrial respiratory complex I gene expression. RTS osteoblast metabolic assays …


Reassessing Associations Between White Matter And Behaviour With Multimodal Microstructural Imaging, Alberto Lazari, Piergiorgio Salvan, Michiel Cottaar, Daniel Papp, Olof Jens Van Der Werf, Ainslie Johnstone, Zeena-Britt Sanders, Cassandra Sampaio-Baptista, Nicole Eichert, Anderson M. Winkler Dec 2021

Reassessing Associations Between White Matter And Behaviour With Multimodal Microstructural Imaging, Alberto Lazari, Piergiorgio Salvan, Michiel Cottaar, Daniel Papp, Olof Jens Van Der Werf, Ainslie Johnstone, Zeena-Britt Sanders, Cassandra Sampaio-Baptista, Nicole Eichert, Anderson M. Winkler

School of Medicine Publications

Several studies have established specific relationships between White Matter (WM) and behaviour. However, these studies have typically focussed on fractional anisotropy (FA), a neuroimaging metric that is sensitive to multiple tissue properties, making it difficult to identify what biological aspects of WM may drive such relationships. Here, we carry out a pre-registered assessment of WM-behaviour relationships in 50 healthy individuals across multiple behavioural and anatomical domains, and complementing FA with myelin-sensitive quantitative MR modalities (MT, R1, R2∗).

Surprisingly, we only find support for predicted relationships between FA and behaviour in one of three pre-registered tests. For one behavioural domain, …


Neuroimaging Association Scores: Reliability And Validity Of Aggregate Measures Of Brain Structural Features Linked To Mental Disorders In Youth, Luiza Kvitko Axelrud, André Rafael Simioni, Daniel Samuel Pine, Anderson M. Winkler, Pedro Mario Pan, João Ricardo Sato, André Zugman, Nadine Parker, Felipe Picon, Andrea Jackowski Dec 2021

Neuroimaging Association Scores: Reliability And Validity Of Aggregate Measures Of Brain Structural Features Linked To Mental Disorders In Youth, Luiza Kvitko Axelrud, André Rafael Simioni, Daniel Samuel Pine, Anderson M. Winkler, Pedro Mario Pan, João Ricardo Sato, André Zugman, Nadine Parker, Felipe Picon, Andrea Jackowski

School of Medicine Publications

In genetics, aggregation of many loci with small effect sizes into a single score improved prediction. Nevertheless, studies applying easily replicable weighted scores to neuroimaging data are lacking. Our aim was to assess the reliability and validity of the Neuroimaging Association Score (NAS), which combines information from structural brain features previously linked to mental disorders. Participants were 726 youth (aged 6–14) from two cities in Brazil who underwent MRI and psychopathology assessment at baseline and 387 at 3-year follow-up. Results were replicated in two samples: IMAGEN (n = 1627) and the Healthy Brain Network (n = 843). NAS …


Toward Rehumanization: Creolized Solidarity And Practical Empathy, Michelle India Miller Dec 2021

Toward Rehumanization: Creolized Solidarity And Practical Empathy, Michelle India Miller

Electronic Theses and Dissertations Archive

This project seeks to engage political theory surrounding processes of creolization and solidarity, as well as their usefulness towards political movements. Current socialization within the United States promotes individualism and, as a result, an inability to see how various sociopolitical issues interact with one another and affect large portions of the population in ways that are not always obvious. Through a commitment to open engagement and practical empathy, creolized solidarity could provide a baseline from which to evaluate prevalent issues as well as our relationships with one another, the natural connection that comes from simply being human.


Latent Tuberculosis Infection In A Patient With A Negative Interferon Gamma Release Assay Prior To Biologic Initiation For Crohn's Disease, Muaaz Masood, Reid Wasserman, Vignesh Nagesh, Humberto Sifuentes Dec 2021

Latent Tuberculosis Infection In A Patient With A Negative Interferon Gamma Release Assay Prior To Biologic Initiation For Crohn's Disease, Muaaz Masood, Reid Wasserman, Vignesh Nagesh, Humberto Sifuentes

Student Publications

CASE: Biologic therapy has revolutionized the treatment of inflammatory bowel disease (IBD). Nevertheless, it is well known that biologics are associated with an increased risk of opportunistic infections such as tuberculosis (TB). Screening tests indicated before biologic initiation, namely interferon gamma release assay (IGRA) or tuberculin skin tests (TST), may be falsely negative. We present the case of a male with uncontrolled Crohn’s disease (CD) with a negative screen for TB and how a high index of suspicion led to the discovery of latent tuberculosis infection (LTBI) and the appropriate deferment of biologic therapy. A 63-year-old South Asian male with …


Searching For Imaging Biomarkers Of Psychotic Dysconnectivity, Amanda L. Rodrigue, Dana Mastrovito, Oscar Esteban, Joke Durnez, Marinka M. G. Koenis, Ronald Janssen, Aaron Alexander-Bloch, Emma M. Knowles, Samuel R. Mathias, John Blangero Dec 2021

Searching For Imaging Biomarkers Of Psychotic Dysconnectivity, Amanda L. Rodrigue, Dana Mastrovito, Oscar Esteban, Joke Durnez, Marinka M. G. Koenis, Ronald Janssen, Aaron Alexander-Bloch, Emma M. Knowles, Samuel R. Mathias, John Blangero

School of Medicine Publications

Background: Progress in precision psychiatry is predicated on identifying reliable individual-level diagnostic biomarkers. For psychosis, measures of structural and functional connectivity could be promising biomarkers given consistent reports of dysconnectivity across psychotic disorders using magnetic resonance imaging.

Methods: We leveraged data from four independent cohorts of patients with psychosis and control subjects with observations from approximately 800 individuals. We used group-level analyses and two supervised machine learning algorithms (support vector machines and ridge regression) to test within-, between-, and across-sample classification performance of white matter and resting-state connectivity metrics.

Results: Although we replicated group-level differences in brain connectivity, individual-level classification …


Anterior-Posterior Axis Of Hippocampal Subfields Across Psychoses: A B-Snip Study, Elisabetta C. Del Re, Victor Zeng, Ney Alliey-Rodriguez, Paulo Lizano, Nicolas Bolo Dec 2021

Anterior-Posterior Axis Of Hippocampal Subfields Across Psychoses: A B-Snip Study, Elisabetta C. Del Re, Victor Zeng, Ney Alliey-Rodriguez, Paulo Lizano, Nicolas Bolo

School of Medicine Publications

Background: The hippocampus (HP) is affected across psychoses, including schizophrenia (SZ), bipolar type 1 (BDP) and schizoaffective (SAD) disorders. We examined HP subfield volumetric abnormalities along the anterior-posterior (ventral-dorsal) axis of the HP in psychosis probands, defined by traditional (DSM) diagnoses and biologically defined subtypes (biotypes, based on cognition and electrophysiology). We hypothesized that biotypes would be better discriminated by HP longitudinal axis subfields abnormalities than DSM. Methods: The sample included 455 probands from the Bipolar Schizophrenia Network for intermediate Phenotypes (BSNIP) dataset (age 35 ± 12.0): 124 unaffected (age 40.4 ± 15.8) and 299 healthy controls (HC; 37 ± …


Clinical Predictors Of Non-Response To Lithium Treatment In The Pharmacogenomics Of Bipolar Disorder (Pgbd) Study, Yian Lin, Adam X. Maihofer, Emma Stapp, Megan Ritchey, Ney Alliey Rodriguez Dec 2021

Clinical Predictors Of Non-Response To Lithium Treatment In The Pharmacogenomics Of Bipolar Disorder (Pgbd) Study, Yian Lin, Adam X. Maihofer, Emma Stapp, Megan Ritchey, Ney Alliey Rodriguez

School of Medicine Publications

Background: Lithium is regarded as a first-line treatment for bipolar disorder (BD), but partial response and non-response commonly occurs. There exists a need to identify lithium non-responders prior to initiating treatment. The Pharmacogenomics of Bipolar Disorder (PGBD) Study was designed to identify predictors of lithium response.

Methods: The PGBD Study was an eleven site prospective trial of lithium treatment in bipolar I disorder. Subjects were stabilized on lithium monotherapy over 4 months and gradually discontinued from all other psychotropic medications. After ensuring a sustained clinical remission (defined by a score of ≤3 on the CGI for 4 weeks) had been …


Coastal Adaptation To Climate Change Through Zonation: A Review Of Coastal Change Management Areas (Ccmas) In England, J. A. Kirby, G. Masselink, S. Essex, T. Poate, T. Scott Dec 2021

Coastal Adaptation To Climate Change Through Zonation: A Review Of Coastal Change Management Areas (Ccmas) In England, J. A. Kirby, G. Masselink, S. Essex, T. Poate, T. Scott

School of Biological and Marine Sciences

Climate change and accelerated rates in sea-level rise are expected to increase flooding and erosion on the world's coastlines. Coastal managers and planners face the challenge of helping communities to adapt to the changing coast. Traditionally hard engineering has been used to defend communities on the coast, but as this option becomes unsustainable and financially unviable, coastal managers are increasingly employing planning policy to mitigate the risk posed by coastal change. Zonation of coastal change areas and delineation of erosion extents, such as set-back lines, are used globally to restrict development in the coastal zone. In England there is policy …


The Neglected “R”: Replicability, Replication, And Writing Center Research, Susanne Hall, Holly Ryan Dec 2021

The Neglected “R”: Replicability, Replication, And Writing Center Research, Susanne Hall, Holly Ryan

The Writing Center Journal

This article makes an argument for the value of both replicable research and replication research in writing center studies. In their discussion of replicability, the authors argue that writing about empirical research so that this research can be replicated will improve the quality of communication in writing center studies whether or not replication studies are subsequently undertaken. The authors further provide for researchers specific guidance on how to create replicable studies, focusing on best practices for describing data sets and sampling, sharing surveys and interview protocols, detailing coding efforts, establishing infrastructure to share data sets, and writing about statistics. Further, …


Cutinase From Amycolatopsis Mediterannei: Marked Activation And Stabilisation In Deep Eutectic Solvents, Yeqi Tan, Gemma K. Kinsella, Gary T. Henehan, Barry J. Ryan Dec 2021

Cutinase From Amycolatopsis Mediterannei: Marked Activation And Stabilisation In Deep Eutectic Solvents, Yeqi Tan, Gemma K. Kinsella, Gary T. Henehan, Barry J. Ryan

Articles

Amycolatopsis mediterranei cutinase (AmCut) has potential biocatalytic applications in plastics degradation and ester synthesis. Deep Eutectic Solvents (DES) are next generation biodegradable solvents for biocatalysis. However, the behaviour of cutinase enzymes in DES is little studied. Herein, we examine the effect of selected DES, and their components, on AmCut activity and stability. Low amounts (10% v/v) of DES (choline chloride:glycerol; 1:1 mole ratio) caused striking activation of AmCut (over 2-fold). Further examination showed that the choline chloride component of DES caused the observed activation. This is the first report of activation of a cutinase by a small molecule. At higher …


Etherlearn: Decentralizing Learning Via Blockchain, Nguyen Binh Duong Ta, Tian Jun Joel Yang Dec 2021

Etherlearn: Decentralizing Learning Via Blockchain, Nguyen Binh Duong Ta, Tian Jun Joel Yang

Research Collection School Of Computing and Information Systems

In institutes of higher learning, most of the time course material development and delivery follow a centralized model which is fully lecturer-controlled. In this model, engaging students as partners in learning is a challenging problem as: 1) students are usually hesitant to contribute due to the fear of getting it wrong, 2) not much incentive for them to put in the extra effort, and 3) current online learning systems lack adequate facilities to support seamless and anonymous interactions between students. In this work, we propose EtherLearn, a blockchain based peer-learning system to distribute the control of how course material and …


Learning To Iteratively Solve Routing Problems With Dual-Aspect Collaborative Transformer, Yining Ma, Jingwen Li, Zhiguang Cao, Wen Song, Le Zhang, Zhenghua Chen, Jing Tang Dec 2021

Learning To Iteratively Solve Routing Problems With Dual-Aspect Collaborative Transformer, Yining Ma, Jingwen Li, Zhiguang Cao, Wen Song, Le Zhang, Zhenghua Chen, Jing Tang

Research Collection School Of Computing and Information Systems

Recently, Transformer has become a prevailing deep architecture for solving vehicle routing problems (VRPs). However, it is less effective in learning improvement models for VRP because its positional encoding (PE) method is not suitable in representing VRP solutions. This paper presents a novel Dual-Aspect Collaborative Transformer (DACT) to learn embeddings for the node and positional features separately, instead of fusing them together as done in existing ones, so as to avoid potential noises and incompatible correlations. Moreover, the positional features are embedded through a novel cyclic positional encoding (CPE) method to allow Transformer to effectively capture the circularity and symmetry …


Analysis Of Circulating Tumour Cells In Early-Stage Uveal Melanoma: Evaluation Of Tumour Marker Expression To Increase Capture, Aaron B. Beasley, Timothy W. Isaacs, Tersia Vermeulen, James Freeman, Jean-Louis De Sousa, Riyaz Bhikoo, Doireann Hennessy, Anna Reid, Fred K. Chen, Jacqueline Bentel, Daniel Mckay, R. Max Conway, Michelle R. Pereira, Bob Mirzai, Leslie Calapre, Wendy N. Erber, Melanie R. Ziman, Elin S. Gray Dec 2021

Analysis Of Circulating Tumour Cells In Early-Stage Uveal Melanoma: Evaluation Of Tumour Marker Expression To Increase Capture, Aaron B. Beasley, Timothy W. Isaacs, Tersia Vermeulen, James Freeman, Jean-Louis De Sousa, Riyaz Bhikoo, Doireann Hennessy, Anna Reid, Fred K. Chen, Jacqueline Bentel, Daniel Mckay, R. Max Conway, Michelle R. Pereira, Bob Mirzai, Leslie Calapre, Wendy N. Erber, Melanie R. Ziman, Elin S. Gray

Research outputs 2014 to 2021

Background:

The stratification of uveal melanoma (UM) patients into prognostic groups is critical for patient management and for directing patients towards clinical trials. Current classification is based on clinicopathological and molecular features of the tumour. Analysis of circulating tumour cells (CTCs) has been proposed as a tool to avoid invasive biopsy of the primary tumour. However, the clinical utility of such liquid biopsy depends on the detection rate of CTCs.

Methods:

The expression of melanoma, melanocyte, and stem cell markers was tested in a primary tissue microarray (TMA) and UM cell lines. Markers found to be highly expressed in primary …


Multi-Marker Immunofluorescent Staining And Pd-L1 Detection On Circulating Tumour Cells From Ovarian Cancer Patients, Du-Bois Asante, Michael Morici, Ganendra R. K. A. Mohan, Emmanuel Acheampong, Isaac Spencer, Weitao Lin, Paula Van Miert, Samantha Gibson, Aaron B. Beasley, Melanie Ziman, Leslie Calapre, Tarek M. Meniawy, Elin S. Gray Dec 2021

Multi-Marker Immunofluorescent Staining And Pd-L1 Detection On Circulating Tumour Cells From Ovarian Cancer Patients, Du-Bois Asante, Michael Morici, Ganendra R. K. A. Mohan, Emmanuel Acheampong, Isaac Spencer, Weitao Lin, Paula Van Miert, Samantha Gibson, Aaron B. Beasley, Melanie Ziman, Leslie Calapre, Tarek M. Meniawy, Elin S. Gray

Research outputs 2014 to 2021

Detection of ovarian cancer (OC) circulating tumour cells (CTCs) is primarily based on targeting epithelial markers, thus failing to detect mesenchymal tumour cells. More importantly, the immune checkpoint inhibitor marker PD-L1 has not been demonstrated on CTCs from OC patients. An antibody staining protocol was developed and tested using SKOV-3 and OVCA432 OC cell lines. We targeted epithelial (cytokeratin (CK) and EpCAM), mesenchymal (vimentin), and OC-specific (PAX8) markers for detection of CTCs, and CD45/16 and CD31 were used for the exclusion of white blood and vascular endothelial cells, respectively. PD-L1 was used for CTC characterisation. CTCs were enriched using the …


Super-Adsorbent Hydrogels For Removal Of Methylene Blue From Aqueous Solution: Dye Adsorption Isotherms, Kinetics, And Thermodynamic Properties, Buddhabhushan Salunkhe, Thomas P. Schuman Dec 2021

Super-Adsorbent Hydrogels For Removal Of Methylene Blue From Aqueous Solution: Dye Adsorption Isotherms, Kinetics, And Thermodynamic Properties, Buddhabhushan Salunkhe, Thomas P. Schuman

Chemistry Faculty Research & Creative Works

Removal of dyes through adsorption from wastewater has gained substantial interest in recent years, especially in development of hydrogel-based adsorbents, owing to their easy use and economical nature. The aim of the present study was to design a super-adsorbent hydrogel based on sodium styrene sulfonate (NaSS) monomer for removal of dyes like methylene blue (MB). NaSS displays both an aromatic ring and strongly ionic group in its monomer structure that can enhance adsorption capacity. Poly (sodium styrene sulfonate-co-dimethylacrylamide) hydrogels were prepared by solution free radical polymerization using gelatin meth acryloyl (GelMA) as crosslinker, creating a highly porous, three-dimensionally crosslinked polymer …


Immobilized Lipase On Zif For Enhanced Biofuel Production, Reem Mohammed Al Mansouri Dec 2021

Immobilized Lipase On Zif For Enhanced Biofuel Production, Reem Mohammed Al Mansouri

Theses

Enzymatic transesterification of triglycerides to produce biodiesel has been gaining increasing attention owing to its advantages over chemical processes. Being catalysts, enzymes are not consumed during the processes in which they are used. Therefore, a successful technique to allow their repeated use can significantly enhance the economic feasibility of the process. The most common approach to allow easy separation of the enzymes and to eliminate their wastage is immobilization on a support matrix. Recently, Metal-Organic Frameworks (MOFs) have been suggested as preferable support for enzyme immobilization, owing to their high-order structure and high porosity and specific surface area. This thesis …


The Impact Of Wastewater Chemistry And Flow Characteristics On Hydrogen Sulfide Concentration, Mohsina Muhammed Sherief Dec 2021

The Impact Of Wastewater Chemistry And Flow Characteristics On Hydrogen Sulfide Concentration, Mohsina Muhammed Sherief

Theses

Hydrogen sulfide (H2S) is a naturally occurring, highly toxic gas that is formed from the decomposition of sulfur compounds. At low concentrations, H2S is an irritant for the eyes, respiratory and gastrointestinal tract. At higher H2S concentrations, it produces neurological impairment with dizziness, headache, and loss of consciousness. Mortality was reported to reach 6 percent following exposure to elevated concentrations. H2S is generated in different industrial processes. In wastewater collection and treatment plants, H2S is a common source of concrete and metal corrosion that has resulted in huge economic loss. …


Elucidation Of The Cellular Mechanisms Underlying Missense Mutations In Low Density Lipoprotein Receptor Related Protein 6 (Lrp6) Associated With Cardiovascular Diseases, Huda Issa Samha Dec 2021

Elucidation Of The Cellular Mechanisms Underlying Missense Mutations In Low Density Lipoprotein Receptor Related Protein 6 (Lrp6) Associated With Cardiovascular Diseases, Huda Issa Samha

Theses

Low-density Lipoprotein Receptor Related Protein 6 (LRP6) is a member of the Low-Density Lipoprotein Receptors family (LDLRs) which is involved in the clearance of LDL from the bloodstream and the signaling of the canonical wingless signaling pathway. Several genetic variants in the LRP6 gene have been conclusively associated with cardiovascular diseases (CVDs) and metabolic syndrome. However, the structural and functional implications of those variations have not been fully elucidated. The CVD-associated LRP6 variants could be retained and possibly subjected to Endoplasmic Reticulum Associated Degradation (ERAD), a quality control and adaptive process employed by cells to eliminate misfolded proteins to maintain …


Toward The Micro-Foundations Of Environmental Sustainability: Fostering Pro-Environmental Behavior Among Employees To Boost Corporate Environmental Performance In The United Arab Emirates, Tareq Zaal Al-Ali Dec 2021

Toward The Micro-Foundations Of Environmental Sustainability: Fostering Pro-Environmental Behavior Among Employees To Boost Corporate Environmental Performance In The United Arab Emirates, Tareq Zaal Al-Ali

Dissertations

Today, the world is still struggling to find ways to control pollution, greenhouse gas emissions, and climate change. Consequently, environmental sustainability has become an essential concept in the global business environment. This study examined the factors that can influence the environmental sustainability performance of organizations. While previous studies have examined the role of regulatory frameworks, industry standards, innovation, and the use of clean technologies in achieving environmental sustainability, little attention has been paid to the role of employees in improving a company's environmental performance. This study examined how employees' pro-environmental beliefs and behaviors are triggered in the workplace. It then …


Conserved And Divergent Features Of Neuronal Camkii Holoenzyme Structure, Function, And Highorder Assembly, Olivia R. Buonarati, Adam P. Miller, Steven J. Coultrap, K. Ulrich Bayer, Steve L. Reichow Dec 2021

Conserved And Divergent Features Of Neuronal Camkii Holoenzyme Structure, Function, And Highorder Assembly, Olivia R. Buonarati, Adam P. Miller, Steven J. Coultrap, K. Ulrich Bayer, Steve L. Reichow

Chemistry Faculty Publications and Presentations

Neuronal CaMKII holoenzymes (a and b isoforms) enable molecular signal computation underlying learning and memory but also mediate excitotoxic neuronal death. Here, we provide a comparative analysis of these signaling devices, using single-particle electron microscopy (EM) in combination with biochemical and live cell imaging studies. In the basal state, both isoforms assemble mainly as 12-mers (but also 14-mers and even 16-mers for the b isoform). CaMKIIa and b isoforms adopt an ensemble of extended activatable states (with average radius of 12.6 versus 16.8 nm, respectively), characterized by multiple transient intra- and interholoenzyme interactions associated with distinct functional properties. The …


Whole-Genome Association Analyses Of Sleep-Disordered Breathing Phenotypes In The Nhlbi Topmed Program, Brian E. Cade, Brian E. Cade, Jiwon Lee, Tamar Sofer, Heming Wang, Man Zhang, Han Chen, John Blangero, Joanne E. Curran, Juan M. Peralta Dec 2021

Whole-Genome Association Analyses Of Sleep-Disordered Breathing Phenotypes In The Nhlbi Topmed Program, Brian E. Cade, Brian E. Cade, Jiwon Lee, Tamar Sofer, Heming Wang, Man Zhang, Han Chen, John Blangero, Joanne E. Curran, Juan M. Peralta

School of Medicine Publications

Background: Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we performed the first whole-genome sequence analysis of sleep-disordered breathing. Methods: The study sample was comprised of 7988 individuals of diverse ancestry. Common-variant and pathway analyses included an additional 13,257 individuals. We examined five complementary traits describing different aspects of sleep-disordered breathing: the apnea-hypopnea index, average oxyhemoglobin desaturation per event, average and minimum oxyhemoglobin saturation across the sleep episode, and the percentage of sleep with oxyhemoglobin saturation < 90%. We adjusted for age, sex, BMI, study, and family structure using MMSKAT and EMMAX mixed linear model approaches. Additional bioinformatics analyses were performed with MetaXcan, GIGSEA, and ReMap. Results: We identified a multi-ethnic set-based rare-variant association (p = 3.48 × 10−8) on chromosome X with ARMCX3. Additional rare-variant associations include ARMCX3-AS1, MRPS33, and C16orf90. Novel common-variant loci were identified in the NRG1 and SLC45A2 regions, and previously associated loci in the IL18RAP and ATP2B4 regions were associated with novel phenotypes. Transcription factor binding site enrichment identified associations with genes implicated with respiratory and craniofacial traits. Additional analyses identified significantly associated pathways. Conclusions: We have identified the first gene-based rare-variant associations with objectively measured sleep-disordered breathing traits. Our results increase the understanding of the genetic architecture of sleep-disordered breathing and highlight associations in genes that modulate lung development, inflammation, respiratory rhythmogenesis, and HIF1A-mediated hypoxic response.


Habitat And Environmental Risks Of Chagas Disease In Low-Income Colonias And Peri-Urban Subdivisions In South Texas, Bára Šafářová, Cecilia H. Giusti, Maria P. Perez, Italo B. Zecca, Ester S. Carbajal, Gabriel L. Hamer, Sarah A. Hamer Dec 2021

Habitat And Environmental Risks Of Chagas Disease In Low-Income Colonias And Peri-Urban Subdivisions In South Texas, Bára Šafářová, Cecilia H. Giusti, Maria P. Perez, Italo B. Zecca, Ester S. Carbajal, Gabriel L. Hamer, Sarah A. Hamer

School of Medicine Publications

Both the planning and public health literature have discussed proximity to greenspaces as predominantly beneficial to health, based on studies mostly conducted in high-income regions. Understanding the health risks of proximity to greenspace and nature—where pathogens and wildlife coexist—is important, as nature-based solutions are increasingly called for to address complex urban challenges. This exploratory pilot study bridges planning and epidemiology approaches to develop a new method to analyze habitat and environmental factors associated with the risk of vector-borne Chagas disease in a low-income region, South Texas. Chagas disease is endemic in Latin America, where it affects between seven to eight …


Investigating The Relations Between Caffeine-Derived Metabolites And Plasma Lipids In 2 Population-Based Studies, Dusan Petrovic, Menno Pruijm, Belén Ponte, Nasser A. Dhayat, Daniel Ackermann, Georg Ehret, Nicolas Ansermot, Bruno Vogt, Pierre-Yves Martin, Jesus D. Melgarejo Dec 2021

Investigating The Relations Between Caffeine-Derived Metabolites And Plasma Lipids In 2 Population-Based Studies, Dusan Petrovic, Menno Pruijm, Belén Ponte, Nasser A. Dhayat, Daniel Ackermann, Georg Ehret, Nicolas Ansermot, Bruno Vogt, Pierre-Yves Martin, Jesus D. Melgarejo

School of Medicine Publications

Objective: To investigate the relations between caffeine-derived metabolites (methylxanthines) and plasma lipids by use of population-based data from 2 European countries.

Methods: Families were randomly selected from the general population of northern Belgium (FLEMENGHO), from August 12, 1985, until November 22, 1990, and 3 Swiss cities (SKIPOGH), from November 25, 2009, through April 4, 2013. We measured plasma concentrations (FLEMENGHO, SKIPOGH) and 24-hour urinary excretions (SKIPOGH) of 4 methylxanthines-caffeine, paraxanthine, theobromine, and theophylline-using ultra-high-performance liquid chromatography-tandem mass spectrometry. We used enzymatic methods to estimate total cholesterol, high-density lipoprotein cholesterol, and triglyceride levels and the Friedewald equation for low-density lipoprotein cholesterol …


On Inter-Organizational Trust, Control And Risk In Transboundary Fisheries Governance, Gordon M. Hickey, Hunter T. Snyder, Jasper R. Devries, Owen Temby Dec 2021

On Inter-Organizational Trust, Control And Risk In Transboundary Fisheries Governance, Gordon M. Hickey, Hunter T. Snyder, Jasper R. Devries, Owen Temby

School of Earth, Environmental, & Marine Sciences Faculty Publications

Inter-organizational collaboration is often considered essential to transboundary fishery governance, due, in part, to the high levels of task interdependence, the remote and often treacherous conditions, and the limited levels of information available to any policy actor on resource status. In the high seas, Regional Fisheries Management Organizations (RFMOs) are responsible for sustainably managing highly migratory and straddling fish stocks through the implementation of ecosystem-based approaches and ensuring adequate inter-jurisdictional cooperation. A central question facing RFMO governance is therefore how to structure and sustain inter-organizational transboundary collaboration under high uncertainty? This paper presents the case of the North Atlantic Salmon …