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Articles 9571 - 9600 of 31571
Full-Text Articles in Entire DC Network
Antithrombotic Strategies And Outcomes In Neonates And Infants With Cardiac Shunts: A Systematic Review And Meta-Analysis., Amy L. Kiskaddon, Neil A. Goldenberg, Marisol Betensky, Joshua W. Branstetter, Dina Ashour, Pamela Williams, Arabela C. Stock, Michael Silvey, Therese M. Giglia, Nhue L. Do, Cardiac Disease Thrombosis And Hemostasis Working Party Of The Isth Ssc Subcommittee On Pediatric And Neonatal Thrombosis And Hemostasis
Antithrombotic Strategies And Outcomes In Neonates And Infants With Cardiac Shunts: A Systematic Review And Meta-Analysis., Amy L. Kiskaddon, Neil A. Goldenberg, Marisol Betensky, Joshua W. Branstetter, Dina Ashour, Pamela Williams, Arabela C. Stock, Michael Silvey, Therese M. Giglia, Nhue L. Do, Cardiac Disease Thrombosis And Hemostasis Working Party Of The Isth Ssc Subcommittee On Pediatric And Neonatal Thrombosis And Hemostasis
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Cardiac shunt thrombosis in neonates and infants remains a concern for shunt failure and mortality. The optimal strategy for thromboprophylaxis remains unknown.
OBJECTIVES: This systematic review aims to characterize antithrombotic strategies and outcomes in neonates and infants with a cardiac shunt.
METHODS: MEDLINE, Embase, and Cochrane CENTRAL were searched from inception through July 2024 for studies reporting shunt thrombosis prevalence among infants who received a cardiac shunt. We estimated the pooled prevalence of shunt thrombosis using random-effects meta-analysis. In the subgroup analysis, we evaluated the effects of shunt type and antithrombotic strategies on shunt thrombosis prevalence.
RESULTS: A total …
Effective Algorithm To Differentiate Nbs Mcadd Cases From Carriers And Non-Carriers And An Assessment Of The Utility Of The Second Newborn Screen For Mcadd, Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton
Effective Algorithm To Differentiate Nbs Mcadd Cases From Carriers And Non-Carriers And An Assessment Of The Utility Of The Second Newborn Screen For Mcadd, Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, Xi Luo, Yishay Ben-Moshe, Lindsay C Burrage, V Reid Sutton
Faculty, Staff and Students Publications
False positives are an inherent part of newborn screening that can increase both costs to the healthcare system and parental anxiety. Previous studies primarily examined presumptive positive rates for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in places conducting one newborn screen (NBS), with predominantly white, non-Hispanic subjects. Texas performs two NBSs and there is a majority Hispanic population in our region. This study aims to analyze biochemical and DNA data to more easily distinguish affected individuals from carriers or healthy non-carriers and identify benefits and challenges of a second NBS for MCADD. Biochemical and targeted DNA data from NBS dried blood …
Mechanoregulation Of Osteogenesis And Adipogenesis Of Human Mesenchymal Stem Cells, Justin Caron
Mechanoregulation Of Osteogenesis And Adipogenesis Of Human Mesenchymal Stem Cells, Justin Caron
Master's Theses
Bone-related diseases (e.g., osteoporosis) are primarily treated with pharmacologic therapies that often exhibit limited efficacy and substantial side effects. Currently, bone marrow derived mesenchymal stem cells (MSCs) have become one of most important cell options in bone regeneration due to readily available sources, strong proliferation abilities, weak immune rejection responses, and strong osteogenic differentiation potential. While identifying the most effective approach to enhance osteogenic differentiation of MSCs for bone regeneration is challenging, understanding the regulatory mechanisms is crucial for improving therapeutic efficacy. Recent research has focused on developing strategies to enhance osteogenesis, which involve biophysical and biochemical stimulation. Mechanical and …
Acquired Resistance In Cancer: Towards Targeted Therapeutic Strategies, Alice Soragni, Erik S Knudsen, Thomas N O'Connor, Cristina E Tognon, Jeffrey W Tyner, Beatrice Gini, Donghwa Kim, Trever G Bivona, Xingxing Zang, Agnieszka K Witkiewicz, David W Goodrich, Dadi Jiang, Seth T Gammon, Christopher D Willey, Paul C Boutros, Vlad C Sandulache, Abdullah A Osman, Jeffrey N Myers, Kamiya Mehla, Pankaj K Singh, Keith S Chan, Hongbo Gao, Himangi Marathe
Acquired Resistance In Cancer: Towards Targeted Therapeutic Strategies, Alice Soragni, Erik S Knudsen, Thomas N O'Connor, Cristina E Tognon, Jeffrey W Tyner, Beatrice Gini, Donghwa Kim, Trever G Bivona, Xingxing Zang, Agnieszka K Witkiewicz, David W Goodrich, Dadi Jiang, Seth T Gammon, Christopher D Willey, Paul C Boutros, Vlad C Sandulache, Abdullah A Osman, Jeffrey N Myers, Kamiya Mehla, Pankaj K Singh, Keith S Chan, Hongbo Gao, Himangi Marathe
Faculty, Staff and Student Publications
Development of acquired therapeutic resistance limits the efficacy of cancer treatments and accounts for therapeutic failure in most patients. How resistance arises, varies across cancer types and differs depending on therapeutic modalities is incompletely understood. Novel strategies that address and overcome the various and complex resistance mechanisms necessitate a deep understanding of the underlying dynamics. We are at a crucial time when innovative technologies applied to patient-relevant tumour models have the potential to bridge the gap between fundamental research into mechanisms and timing of acquired resistance and clinical applications that translate these findings into actionable strategies to extend therapy efficacy. …
Low-Dose Metformin Requires Brain Rap1 For Its Antidiabetic Action, Hsiao-Yun Lin, Weisheng Lu, Yanlin He, Yukiko Fu, Kentaro Kaneko, Peimeng Huang, Ana B De La Puente-Gomez, Chunmei Wang, Yongjie Yang, Feng Li, Yong Xu, Makoto Fukuda
Low-Dose Metformin Requires Brain Rap1 For Its Antidiabetic Action, Hsiao-Yun Lin, Weisheng Lu, Yanlin He, Yukiko Fu, Kentaro Kaneko, Peimeng Huang, Ana B De La Puente-Gomez, Chunmei Wang, Yongjie Yang, Feng Li, Yong Xu, Makoto Fukuda
Faculty, Staff and Students Publications
Metformin is the most commonly prescribed antidiabetes drug, yet its precise mechanism of action remains controversial. Previous studies have suggested that metformin acts peripherally by reducing hepatic glucose output and altering gut functions. Here, we report a neural mechanism via the small guanosine triphosphatase Ras-related protein 1 (Rap1). Mice with forebrain-specific Rap1 knockout exhibited resistance to the antidiabetic effects of low-dose metformin while remaining sensitive to other antidiabetic agents. Centrally administered metformin inhibited brain Rap1 and reduced hyperglycemia. Conversely, forced activation of brain Rap1 increased glycemia and abolished the glycemic effect of metformin. Metformin activated a specific subset of neurons …
Examining The Impact Of A Utility Value Intervention On Self-Regulated Learning Engagement, Wanda D. Brooks
Examining The Impact Of A Utility Value Intervention On Self-Regulated Learning Engagement, Wanda D. Brooks
STEMPS Theses & Dissertations
The purpose of this study was to examine the impact of inserting a motivation intervention into a self-regulated learning training in an introductory biology course to increase academic performance and persistence to degree completion in science. The study was an experimental design with pre- and post-tests, with treatment and comparison groups. The training was in the form of three self-regulated learning cycles presented to students on a Blackboard Organization site where students were asked to record self-regulated learning activities in a journal during training. The primary aim of the intervention was to increase engagement in the self-regulated learning training by …
Endotherm Energetics Under Environmental And Physiological Constraints, Zachary Andrew David
Endotherm Energetics Under Environmental And Physiological Constraints, Zachary Andrew David
Biological Sciences Theses & Dissertations
Metabolic rate governs how animals allocate energy toward maintenance, activity, growth, and reproduction, linking physiology to environmental context. This dissertation investigates how two endothermic mammals regulate metabolic rate in response to environmental variability, focusing on thermoregulatory flexibility and physiological constraints. Using flow-through respirometry, I measured resting metabolic rates (RMRs) in two complementary systems: tropical bears housed in semi-natural outdoor enclosures and marsh rice rats (Oryzomys palustris) exposed to controlled thermal treatments. Asiatic black bears (Ursus thibetanus) exhibited unexpectedly low mass-specific metabolic rates even under high ambient temperatures, yet their RMR increased with temperature, suggesting proximity to their …
The Influence Of Monsoon Variability On The Circulation Of The Near-Surface Indian Ocean And The Depth-Integrated Chlorophyll, Marufa Ishaque
The Influence Of Monsoon Variability On The Circulation Of The Near-Surface Indian Ocean And The Depth-Integrated Chlorophyll, Marufa Ishaque
OES Theses and Dissertations
The Indian Ocean experiences a strong semiannual reversal of monsoon winds, which determines the weather and climate of Asia, including freshwater fluxes between the atmosphere, land, and ocean. Studies and model projections suggest that the timing and intensity of the seasonal monsoon have already started to change, with more dramatic changes likely in the future. However, the impact of these changes on the Indian Ocean circulation system, including the inter-basin salt/freshwater transport between the Bay of Bengal and the Arabian Sea, remains unclear. To better understand how monsoon variability affects Indian Ocean circulation patterns, a Regional Ocean Modeling System simulation …
Towards Improving Computational Modeling Of The Lumbar Spine - Impact Of Material Properties And Laminotomy On Spinal Biomechanics, Isaac K. Kumi
Towards Improving Computational Modeling Of The Lumbar Spine - Impact Of Material Properties And Laminotomy On Spinal Biomechanics, Isaac K. Kumi
Mechanical & Aerospace Engineering Theses & Dissertations
Spinal ligaments play a crucial role in maintaining the mechanical stability of the lumbar spine. These dense, collagenous tissues not only resist excessive motion but also distribute loads between spinal components to protect neural structures. Traditionally, the mechanical response of ligaments has been modeled using linear elastic assumptions, which treat the tissue as having a constant stiffness regardless of loading history. While this simplifies analysis, it fails to capture the time-dependent behaviors, such as creep, stress relaxation, and hysteresis, that are characteristic of biological tissues.
Viscoelastic modeling may provide a more physiologically accurate representation by incorporating both elastic and viscous …
Mx1-Labeled Pulp Progenitor Cells Are The Main Contributors Of Odontoblast And Dentin Regeneration In Murine Molars, Dongwook Yang, Youngjae Jeong, Laura Ortinau, Jea Giezl Solidum, Dongsu Park
Mx1-Labeled Pulp Progenitor Cells Are The Main Contributors Of Odontoblast And Dentin Regeneration In Murine Molars, Dongwook Yang, Youngjae Jeong, Laura Ortinau, Jea Giezl Solidum, Dongsu Park
Faculty, Staff and Students Publications
Regeneration of dentin and odontoblasts from dental pulp progenitor cells is essential for the maintenance of permanent tooth. However, the in vivo identity of endogenous pulp progenitor cells and how they contribute to reparative dentinogenesis remain elusive. Here we show that comparative single-cell analysis of pulp cells before and after molar eruption reveal that endogenous pulp progenitor cells are enriched in coronal papilla-like cells with Mx1-Cre and Cxcl12–GFP expression. Further, lineage tracing and fluorescence-activated cell sorting analysis indicated that Mx1-labeled (Mx1+) pulp cells include long-term repopulating progenitor cells with higher expression of stem cell markers. Notably, …
Saliva & Circadian Rhythm In Medical Profiling For Early Disease Prevention, Joseph Lewis
Saliva & Circadian Rhythm In Medical Profiling For Early Disease Prevention, Joseph Lewis
Graduate Student Dissertations, Theses, Capstones, and Portfolios
Circadian rhythms affect almost every biological process from hormone secretion, gene expression, immune regulation, and metabolism. Studies show that disruption to these internal rhythms through irregular sleep, artificial sleep, and irregular sleep can significantly increase risk for chronic disease such as diabetes, cardiovascular disorders, neurodegeneration, and cancer. Saliva presents a viable alternative for capturing biomarkers found through blood or cerebrospinal fluid, offering substantial utility for diagnostic and chronobiological profiling. Saliva contains hormones such as cortisol and melatonin while containing inflammatory markers that fluctuate rhythmically throughout the day. Due to its ease of collection, saliva is well suited for longitudinal monitoring, …
Fluoride Toxicity And Benefit: An Integrated Review Of Mechanisms, Risks, And Public Health Impact, Sophia Chavarria
Fluoride Toxicity And Benefit: An Integrated Review Of Mechanisms, Risks, And Public Health Impact, Sophia Chavarria
Graduate Student Dissertations, Theses, Capstones, and Portfolios
Fluoride has long been praised for its role in preventing dental caries, primarily through its effects on enamel remineralization and antibacterial effects. However, growing evidence from molecular and cellular studies suggests that excessive fluoride exposure, especially during tooth development, can lead to dental fluorosis and systemic toxicity. This paper examines the biological mechanisms underlying fluoride-induced dental fluorosis, with a focus on stress responses in ameloblasts, oxidative damage, impaired autophagy, and disrupted protein processing. It integrates data from in vitro, in vivo, and human studies to evaluate the cellular thresholds at which fluoride shifts from therapeutic to toxic. Systemic risks, including …
Il-17a Immune Signature Across Stratified Stages Of Type 2 Diabetes, Brittney C. White, Antonio Hernandes Chaves-Neto, Peter Elvin, Javier La Fontaine, Eric L. Brown, Walid Fakhouri, Craig Hanis, Claudia Biguetti
Il-17a Immune Signature Across Stratified Stages Of Type 2 Diabetes, Brittney C. White, Antonio Hernandes Chaves-Neto, Peter Elvin, Javier La Fontaine, Eric L. Brown, Walid Fakhouri, Craig Hanis, Claudia Biguetti
School of Podiatric Medicine - Student Research
Purpose: This study investigated whether IL-17A, a pro-inflammatory cytokine associated with Th17 cell activity, reflects distinct stages of type 2 diabetes progression.
Methods: Forty-two obese individuals (average age: 60.4 ± 10.3 years; 55% male; BMI: 31.3 ± 4.9) from Starr County, Texas, were matched for gender and BMI and stratified into five metabolic groups based on fasting blood glucose, 2-hour oral glucose tolerance test, and HbA1c levels. Groups included diabetes-free, isolated impaired glucose tolerance, combined glucose impairment, diabetes without complications, and diabetes with lower extremity complications. IL-17A protein levels were quantified from buffy coat samples using ELISA. After excluding …
Opportunistic Short-Term Water Uptake Dynamics By Subalpine Trees Observed Via In Situ Water Isotope Measurements, Matthias Sprenger, Stefan Seeger, Max Berkelhammer, Nathaniel A. Bogie, Raymond J. Hess, Wendy S. Brown, Sylvain Kuppel, James Knighton
Opportunistic Short-Term Water Uptake Dynamics By Subalpine Trees Observed Via In Situ Water Isotope Measurements, Matthias Sprenger, Stefan Seeger, Max Berkelhammer, Nathaniel A. Bogie, Raymond J. Hess, Wendy S. Brown, Sylvain Kuppel, James Knighton
Faculty Research, Scholarly, and Creative Activity
Variations in tree water sources are important to understand in semi-arid ecosystems because climatic shifts towards lower snowpack and increased drought affect water availability in subalpine forests of the western US. Here, we use daily in situ measurements of stable isotopes (2H & 18O) in soil and tree stem water, soil matric potential and sap flow to study tree water uptake dynamics. We instrumented three soil profiles down to 90 cm, as well as three aspen and engelmann spruce trees near Gothic, Colorado, in the East River watershed. We observed the fate of natural isotopic variations in …
Association Between Nt-Probnp Changes And Clinical Outcomes In Paediatric Patients With Heart Failure: Insights From Panorama-Hf And Paradigm-Hf, Robert Shaddy, Charles Canter, Et Al.
Association Between Nt-Probnp Changes And Clinical Outcomes In Paediatric Patients With Heart Failure: Insights From Panorama-Hf And Paradigm-Hf, Robert Shaddy, Charles Canter, Et Al.
2020-Current year OA Pubs
AIMS: The PANORAMA-HF trial demonstrated significant N-terminal pro-B-type natriuretic peptide (NT-proBNP) reductions in paediatric patients with left ventricular systolic dysfunction with sacubitril/valsartan or enalapril treatment over 52 weeks. This post hoc analysis aims to correlate changes in NT-proBNP levels with clinical outcomes in PANORAMA-HF patients receiving either sacubitril/valsartan or enalapril. Additionally, NT-proBNP reductions in the paediatric population were compared with a subset of adult heart failure with reduced ejection fraction (HFrEF) patients from the PARADIGM-HF trial.
METHODS AND RESULTS: This post hoc analysis utilized data from Part 2 of the PANORAMA-HF trial. Associations between baseline NT-proBNP levels, changes post-baseline and …
Effects Of Sediment Composition On Spartina Alterniflora And Juncus Roemerianus Productivity In Coastal Virginia: A Thin-Layer Sediment Placement Experiment, Caitlin Hemphill
Effects Of Sediment Composition On Spartina Alterniflora And Juncus Roemerianus Productivity In Coastal Virginia: A Thin-Layer Sediment Placement Experiment, Caitlin Hemphill
Biological Sciences Theses & Dissertations
Climate change poses a major threat to the health of estuaries and their coastal wetland systems. The Chesapeake Bay’s coastal salt marshes are at high risk of inundation due to sea-level rise and land subsidence. Restoration techniques for maintaining coastal marsh resistance to sea-level rise are being developed and refined, with thin layer placement (TLP) emerging as a feasible solution in many areas of the United States. Despite TLPs use across the country, additional research is needed on species-specific responses, sediment types, and geographically focused studies in the lower Chesapeake Bay. My research addresses these gaps by combining both greenhouse …
A Strict Physicality-Preserving Scheme For A 2d Q-Tensor Flow With A Singular Potential, Md Mashud Parvez
A Strict Physicality-Preserving Scheme For A 2d Q-Tensor Flow With A Singular Potential, Md Mashud Parvez
Mathematics & Statistics Theses & Dissertations
Nematic liquid crystals are a state of matter that exhibit properties between those of conventional liquids and solid crystals. Their unique ability to align molecules in specific directions makes them essential in various applications, including display technologies and advanced materials. To model their complex behavior, mathematical frameworks such as the Q-tensor model are used to describe the orientation and degree of molecular order. In this work, we introduce a numerical scheme for a two-dimensional (2D) dynamic Q-tensor model, which is formulated as an L2-gradient flow driven by the liquid crystal free energy and incorporates a singular potential to …
Inter-Cellular Forces Modulate Cell-Ecm Traction Forces, Zaria Booth
Inter-Cellular Forces Modulate Cell-Ecm Traction Forces, Zaria Booth
Mechanical & Aerospace Engineering Theses & Dissertations
Epithelial cells are among the most abundant cell types in the human body, making up sheets of epithelial tissues that cover the linings of organs and body cavities. Cellular adhesion and force transmission across epithelial tissues are crucial in maintaining tissue integrity and ensuring proper tissue regeneration. Defects in cellular force transmission have been found in various diseases, including cancer. Force transmission at cell-cell and cell-ECM junctions drive cell survival and development. It has been previously shown that changes in cell-ECM traction directly modulates forces at cell-cell contacts. In this study, we aim to determine the effects of perturbations in …
From First-Generation To Flourishing: Exploring The Influence Of Academic, Social, And Deeper Life Interactions In Higher Education, Melissa Jean Overton
From First-Generation To Flourishing: Exploring The Influence Of Academic, Social, And Deeper Life Interactions In Higher Education, Melissa Jean Overton
Educational Leadership & Workforce Development Theses & Dissertations
Despite comprising half of all undergraduate students (RTI International, 2024) and being widely studied in higher education literature, first-generation students experience many barriers to success and are less likely to graduate than continuing-generation students (Engle & Tinto, 2008; Fry, 2021; Kezar et al., 2023). Social science and higher education scholars have identified flourishing, the presence of complete mental health and holistic well-being (Keyes & Haidt, 2003), as an important outcome of higher education beyond more traditional success metrics, with the thought that flourishing promotes success in other areas.
This study explored how first-generation students’ academic, social, and deeper life interactions …
Reproductive Redlining: Unraveling Historical Disparities And Facility Placement In Distance To Licensed Childcare Facilities, Reproductive Health Clinics, & Crisis Pregnancy Centers For Women In The Southern Region Of The United States, Mackenzie A. Kibler
Sociology & Criminal Justice Theses & Dissertations
This dissertation investigates how historical and structural inequalities shape contemporary access to reproductive health services, licensed childcare facilities, and crisis pregnancy centers across Mississippi, Virginia, and Maryland. Using feminist geography, reproductive justice theory, and historical trauma theory, this research develops the concept of reproductive redlining to explore how race, policy, and space intersect to produce health disparities. By combining GIS mapping with multivariate statistical analysis and redlining data from the Home Owners’ Loan Corporation (HOLC), the study evaluates spatial distributions and demographic correlates of facility access before and after the Dobbs decision. Findings reveal enduring spatial inequities that disproportionately impact …
Advanced Analytical Biosensing For Cancer Detection And Neural Diagnostics Using Tapered Optical Fiber (Tof), Protonic, And High Throughput Microplate –Based Technologie, Bayan Hassan Alharbi
Advanced Analytical Biosensing For Cancer Detection And Neural Diagnostics Using Tapered Optical Fiber (Tof), Protonic, And High Throughput Microplate –Based Technologie, Bayan Hassan Alharbi
Chemistry & Biochemistry Theses & Dissertations
This dissertation investigates the development and application of advanced biosensing technologies to enhance early disease detection, neurological diagnostics, and bioactive compound evaluation. The research spans four key areas. First, it introduces tapered optical fiber (TOF)-based plasmonic biosensors for the non-invasive detection of prostate cancer, demonstrating high sensitivity and specificity compared to conventional diagnostic methods.
Second, it explores the use of fluorescent biosensors to test the Transmembrane Electrostatically Localized Proton (TELP) theory, shedding light on the role of localized protons in neuronal signaling and energy transfer. Third, the work presents a high-throughput, microplate-based biosensing platform for analyzing mitochondrial function under nanosecond …
'Managed Hearts’ In Helper-Education: Gender Non-Binary Helper-Educators’ Experiences Of Emotional Labor, Jordan Pearce
'Managed Hearts’ In Helper-Education: Gender Non-Binary Helper-Educators’ Experiences Of Emotional Labor, Jordan Pearce
Counseling & Human Services Theses & Dissertations
The unique experiences of people who identify with a gender beyond the binary paradigm dominant in the Global West are not well understood. The literature provides little insight into the experiences and perspectives of these individuals in a variety of contexts, including in their workplaces. As various social movements collide, they bring amplified attention to the mental health of marginalized communities and to workers, as well as the dynamics of modern work environments, and the specific needs of certain individuals doing certain types of work. The current study explored the experiences of gender non-binary individuals (GNI) working as helper-educators engaged …
Human Activity Recognition And Identification Driven Automated Deep Learning For Time-Series Classification, Justin Alan Gamble
Human Activity Recognition And Identification Driven Automated Deep Learning For Time-Series Classification, Justin Alan Gamble
Engineering Management & Systems Engineering Theses & Dissertations
The growing emphasis on Digital Engineering (DE) within the U.S. Department of Defense (DoD) demands advanced methods for leveraging vast time-series data generated by sensor-rich environments. Deep learning models offer promising solutions for complex timeseries classification tasks, however their design and optimization remain highly resource intensive, requiring specialized expertise. This dissertation addresses this challenge by developing and evaluating an Automated Machine Learning (AutoML) framework specifically tailored for the time-series classification task of Human Activity Recognition and Identification (HARI).
A systematic investigation was conducted using the Design Science Research Methodology (DSRM) comparing traditional search strategies of grid search and random search …
Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann
Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann
Faculty, Staff and Students Publications
Objective: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.
Methods: Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.
Results: We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG …
First Assembly Of A Draft Genome Of The Critically Endangered Northern Muriqui ( Brachyteles Hypoxanthus , Primates, Atelidae) Including Non‐Invasive Genotyping Strategies For The Species, Amanda Alves De Melo-Ximenes, Romina Batista, Leonardo Carlos Jeronimo Corvalán, Tomas Marques-Bonet, Lukas Kuderna, Kyle Farh, Jeffrey Rogers, Mariane Da Cruz Kaizer, Jean Philippe Boubli, Fabiano Rodrigues De Melo, Rhewter Nunes, Mariana Pires De Campos Telles
First Assembly Of A Draft Genome Of The Critically Endangered Northern Muriqui ( Brachyteles Hypoxanthus , Primates, Atelidae) Including Non‐Invasive Genotyping Strategies For The Species, Amanda Alves De Melo-Ximenes, Romina Batista, Leonardo Carlos Jeronimo Corvalán, Tomas Marques-Bonet, Lukas Kuderna, Kyle Farh, Jeffrey Rogers, Mariane Da Cruz Kaizer, Jean Philippe Boubli, Fabiano Rodrigues De Melo, Rhewter Nunes, Mariana Pires De Campos Telles
Faculty, Staff and Students Publications
Genomic resources, such as draft genomes, are vital for biodiversity monitoring and conservation. For endangered species, they enable the development of tools like organellar genomes and molecular markers, which are crucial for population genetics. Advances in sequencing technologies now allow high‐throughput genotyping with detailed amplicon sequences, enhancing genetic variation studies. The northern muriqui ( Brachyteles hypoxanthus ), a critically endangered primate endemic to Brazil's Atlantic Forest, currently lacks both nuclear and mitochondrial genome data and species‐specific microsatellite markers for population genetic studies. We assembled a 2.52 Gb draft genome for B. hypoxanthus with 202,243 contigs (N50 = 29,134 bp), and …
Molecular Maestro In The Lung: The Sphingolipid Rheostat, Joselyn Rojas-Quintero, Francesca Polverino
Molecular Maestro In The Lung: The Sphingolipid Rheostat, Joselyn Rojas-Quintero, Francesca Polverino
Faculty, Staff and Students Publications
No abstract provided.
Comparative Nitrene-Transfer Chemistry To Olefins Mediated By First-Row Transition Metal Catalysts Supported By A Pyridinophane Macrocycle With N4 Ligation, Himanshu Bhatia, Lillian P. Adams, Ingrid Cordsiemon, Suraj Kumar Sahoo, Amitava Choudhury, Thomas R. Cundari, Pericles Stavropoulos
Comparative Nitrene-Transfer Chemistry To Olefins Mediated By First-Row Transition Metal Catalysts Supported By A Pyridinophane Macrocycle With N4 Ligation, Himanshu Bhatia, Lillian P. Adams, Ingrid Cordsiemon, Suraj Kumar Sahoo, Amitava Choudhury, Thomas R. Cundari, Pericles Stavropoulos
Chemistry Faculty Research & Creative Works
A 12-membered pyridinophane scaffold containing two pyridine and two tertiary amine residues is examined as a prototype ligand (tBuN4) for supporting nitrene transfer to olefins. The known [(tBuN4)MII(MeCN)2]2+ (M = Mn, Fe, Co, and Ni) and [(tBuN4)CuI(MeCN)]+ cations are synthesized with the hexafluorophosphate counteranion. The aziridination of para-substituted styrenes with PhI=NTs (Ts = tosyl) in various solvents proved to be high yielding for the Cu(I) and Cu(II) reagents, in contrast to the modest efficacy of all other metals. For α-substituted styrenes, aziridination is accompanied by products of aziridine …
Visceral, Neural, And Immunotoxicity Of Per- And Polyfluoroalkyl Substances: A Mini Review, Pietro Martano, Samira Mahdi, Tong Zhou, Yasmin Barazandegan, Rebecca Iha, Hannah Do, Joel Burken, Paul Ki-Souk Nam, Qingbo Yang, Ruipu Mu
Visceral, Neural, And Immunotoxicity Of Per- And Polyfluoroalkyl Substances: A Mini Review, Pietro Martano, Samira Mahdi, Tong Zhou, Yasmin Barazandegan, Rebecca Iha, Hannah Do, Joel Burken, Paul Ki-Souk Nam, Qingbo Yang, Ruipu Mu
Chemistry Faculty Research & Creative Works
Per- and polyfluoroalkyl substances (PFASs) have gained significant attention due to their widespread distribution in the environment and potential adverse health effects. While ingestion, especially through contaminated drinking water, is considered the primary route of human exposure, recent research suggests that other pathways, such as inhalation and dermal absorption, also play a significant role. This review provides a concise overview of the toxicological impacts of both legacy and emerging PFASs, such as GenX and perfluoro butane sulfonic acid (PFBS), with a particular focus on their effects on the liver, kidneys, and immune and nervous systems, based on findings from recent …
The Inside Scoop: Elucidating The Three-Way Relationship Between Schistosoma Mansoni, The Gut, And Vaccines, Mariam A. Mhanna
The Inside Scoop: Elucidating The Three-Way Relationship Between Schistosoma Mansoni, The Gut, And Vaccines, Mariam A. Mhanna
Biomedical Sciences Theses & Dissertations
Schistosomiasis is a neglected tropical disease that affects over 250 million people worldwide. This blood fluke infection burdens communities and areas with limited to no access to clean fresh water. When a host is exposed to cercariae, the infectious agent, in a body of water, it matures in the host’s circulation into adult female and male worms. Copulated adult worms migrate to the mesentery, in the case of Schistosoma mansoni, and produce eggs that can cross the intestinal barrier and get excreted in the feces to continue the lifecycle. The effects of S. mansoni infection on the host …
Semaphorin 3e-Plexin-D1 Pathway Downstream Of The Luteinizing Hormone Surge Regulates Ovulation, Granulosa Cell Luteinization, And Ovarian Angiogenesis In Mice, Hanxue Zhang, Jimmy Dhillon, Paul D Soloway, Bo Shui, Seoyeon Lee, Jennifer K Grenier, Paul R Munn, M Cecilia Ljungberg, Rebecca B Williams, Rainer B Lanz, Yu-Hsiang Liao, Yi A Ren
Semaphorin 3e-Plexin-D1 Pathway Downstream Of The Luteinizing Hormone Surge Regulates Ovulation, Granulosa Cell Luteinization, And Ovarian Angiogenesis In Mice, Hanxue Zhang, Jimmy Dhillon, Paul D Soloway, Bo Shui, Seoyeon Lee, Jennifer K Grenier, Paul R Munn, M Cecilia Ljungberg, Rebecca B Williams, Rainer B Lanz, Yu-Hsiang Liao, Yi A Ren
Faculty, Staff and Students Publications
Ovulation is induced by the luteinizing hormone (LH) surge and accompanied by granulosa cell luteinization and ovarian angiogenesis. Semaphorin 3E (Sema3E)-Plexin-D1 pathway regulates angiogenesis in other tissues, but its role in the ovary is unknown. Evidence indicates that Sema3E-Plexin-D1 pathway plays an important role in the mouse ovary. The expression of Sema3E and its receptor, Plexin-D1, is dynamically regulated in the mouse ovary downstream of the LH surge. This regulation requires the modulation of chromatin accessibility by CCAAT/enhancer-binding proteins α and β. Intraovarian injection of recombinant Sema3E results in reduced ovulation, impaired corpus luteum formation, and aberrant ovarian angiogenesis. These …