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These Things Happen, Keleigh E. Mcmullen May 2025

These Things Happen, Keleigh E. Mcmullen

Electronic Theses, Projects, and Dissertations

My artwork emerges from moments of emotional and physical violence—both small and large. Although rooted in my lived experience, the truths I tell in my work are far from unique. Violence often hides in plain sight, buried in the mundane spaces of daily life. Through ceramic sculpture, I spotlight these moments, inviting viewers into a world that is familiar and simultaneously unsettling.

Scale plays a crucial role in this narrative—objects shrink or expand based on their emotional gravity, their object authority, or my own relationship to them. By amplifying the small and shrinking the overwhelming, I reshape how viewers interact …


Estimation Of Nitrates In Southern California Water Resources, Sarath Babu, Sarath Babu May 2025

Estimation Of Nitrates In Southern California Water Resources, Sarath Babu, Sarath Babu

Electronic Theses, Projects, and Dissertations

The research examines the water quality of Southern California, focusing on nitrate (NO3) levels. The study aims to provide insights into potential health disparities stemming from disproportionate exposure to these contaminants, particularly in underserved communities. Utilizing advanced analytical tools such as the UV spectrophotometer AquaMate Plus, water samples (n=40) were analyzed to assess nitrate levels compared to previous data (n=70 Approx.). The UV spectrophotometer operates based on measuring the absorbance of light intensity by the analyzed samples, providing valuable data for water quality assessment. Preliminary findings suggest varying levels of nitrate presence across the studied regions (0.4-43 ppm), …


Precarious Manhood: Masculinity Threats In Gay Men, Andrew S. Rivera May 2025

Precarious Manhood: Masculinity Threats In Gay Men, Andrew S. Rivera

Electronic Theses, Projects, and Dissertations

Manhood is a precarious state that is both sought and easily undermined and demands continual validation from public perceptions. Previous research shows that threats to one's masculinity often coerces reactions of bravado, aggression, and sexual risk-taking behaviors in men in an attempt to reestablish their manhood. However, little empirical attention is paid to deviations of such reactions as a result of varying self-concepts of masculinity and femininity, such as in gay men. In the current study, I explored the different ways in which self-identified masculine and feminine gay men navigate the volatile state of manhood, particularly when confronted with masculinity …


Micronutrient Deficiencies In Celiac Disease: Systematic Review, Natalie A. Martinez May 2025

Micronutrient Deficiencies In Celiac Disease: Systematic Review, Natalie A. Martinez

Electronic Theses, Projects, and Dissertations

Celiac disease (CD) is a chronic autoimmune disease triggered by the ingestion of gluten in genetically susceptible individuals, leading to villous atrophy, nutrient malabsorption, and a range of systemic complications. Although adherence to a strict gluten-free diet (GFD) remains the only effective treatment, growing evidence suggests that the GFD alone may be insufficient in meeting the long-term nutritional and psychosocial needs of adults with CD. This systematic review evaluates the prevalence and persistence of micronutrient deficiencies—including iron, calcium, vitamin D, folate, vitamin B12, magnesium, and zinc—in adult CD populations following a GFD. It also examines the psychological burden associated with …


Trade, Commerce, Ceremony In Association With The Kizh Village Of Lukuupagna Ca-Ora-162, Aurelia R. Torres Ms. May 2025

Trade, Commerce, Ceremony In Association With The Kizh Village Of Lukuupagna Ca-Ora-162, Aurelia R. Torres Ms.

Electronic Theses, Projects, and Dissertations

ABSTRACT

The Kizh of Southern California were an influential part of the trade, commerce, and ceremonial networks in the region before the invasion of the Spanish colonists into their ancestral territory. Their ancestral territory consisted of what is today known as Santa Catalina, Santa Nicholas, Santa Clemente, Santa Barbara Island, Los Angeles County, northern Orange County, western San Bernardino and Riverside Counties. At time of Spanish contact, the Kizh people identified themselves as “Kizh”, the people of the willow houses”. After the Kizh were forced into the Spanish mission system, the Spanish renamed them the “Gabrieleño” connecting them to the …


Effect Of Emotional Expression And Teeth Visibility On Facial Processing, Alexandra Ackerman May 2025

Effect Of Emotional Expression And Teeth Visibility On Facial Processing, Alexandra Ackerman

Electronic Theses, Projects, and Dissertations

The N170 is an event-related potential (ERP) component commonly associated with its sensitivities to face stimuli. While mixed literature exists, the N170 has been repeatedly demonstrated to be modulated by emotion. In a highly cited study, Blau et al. (2007) found that the N170 is heavily modulated by emotional expression, with fearful expressions eliciting larger N170 amplitudes than neutral expressions. In their study, however, analysis did not account for variability in mouth positioning in fearful and neutral expressions and how this variability might influence differences observed in amplitudes of the N170. A distinctive feature in the fearful condition was the …


Skills And Strengths Gained From Being A First-Born Daughter In A Latino Household, Astrid Luque, Leesly Angeles Rosas May 2025

Skills And Strengths Gained From Being A First-Born Daughter In A Latino Household, Astrid Luque, Leesly Angeles Rosas

Electronic Theses, Projects, and Dissertations

This research proposal aims to analyze the perspective first-born daughters in Latino households experience throughout their lives and looks to fill a gap in the literature about what this population faces due to being in the eldest daughter position in the household. The existing literature revealed that first-born daughters in Latino households experience a significantly higher amount of stress due to the role they take on in their households. Some of the responsibilities placed on them included financial burden, caregiving responsibilities, and a general higher expectation compared to their younger siblings. To obtain more knowledge on this topic, an exploratory, …


The Colby Echo (2025-05-01), Colby College May 2025

The Colby Echo (2025-05-01), Colby College

The Colby Echo

Published by the students of Colby College since 1877, The Colby Echo is the weekly, editorially independent student-run newspaper of Colby College in Waterville, Maine. Published monthly, 1877-1886; semi-monthly, 1886-1897; and weekly during the academic year, 1898-present.


Assessing The Relationship Between The Incidence Of Campylobacteriosis And Ecological Risk Factors In Tennessee, Emmanuel Angmorteh Mensah May 2025

Assessing The Relationship Between The Incidence Of Campylobacteriosis And Ecological Risk Factors In Tennessee, Emmanuel Angmorteh Mensah

Electronic Theses and Dissertations

Background: Campylobacteriosis although is the leading causes of bacterial diarrheal illnesses, have not gained prominent awareness and there are gaps in the understanding of transmission routes for sporadic, non-outbreak cases and their risk factors at the communal level to humans. This study, therefore, aimed to identify the campylobacteriosis risk factors and risk perception from the existing literature in the United States, determine the incidence and ecological risk factors for campylobacteriosis zip code level in Tennessee, and to perform spatiotemporal analysis of campylobacteriosis incidence cases in Tennessee.

Method: To achieve the first aim, a scoping review was conducted to synthesize …


The Moderating Role Of Social Support For Lgbtq People In South Central Appalachia: Present Yet Unimpactful?, Paige Henry May 2025

The Moderating Role Of Social Support For Lgbtq People In South Central Appalachia: Present Yet Unimpactful?, Paige Henry

Electronic Theses and Dissertations

Lesbian, gay, bisexual, transgender, and queer (LGBTQ) minority stress theory states that LGBTQ people experience stressors specific to their identity that result in negative mental health outcomes. Social support has been shown to protect against these negative outcomes, but South Central Appalachia is known to be high stigma and low resource for this population. The present study examined the potential moderating impact of four sources of social support (family, friends, partners, and pets) on the relationship between minority stress experiences and psychological distress for LGBTQ people living in South Central Appalachia. Participants included 116 LGBTQ adults living in South Central …


The Forest Through The Trees: Modeling The Ecological Niche And Potential Assemblage Distribution Of Oak-Hickory Forests Across The Eastern U.S., Elijah Worley May 2025

The Forest Through The Trees: Modeling The Ecological Niche And Potential Assemblage Distribution Of Oak-Hickory Forests Across The Eastern U.S., Elijah Worley

Electronic Theses and Dissertations

Understanding how tree species’ ranges and populations may shift by the end of the 21st Century is critical for effective conservation and forest management. Ecological niche models are widely used to predict species distributions by modeling the relationships between environmental variables and species presence. While numerous models have been developed for individual tree species across the USA, there is limited research on how tree species assemblages, such as oak-hickory forests, will respond to changes in climate over time. Maxent modeling software was used to predict potential shifts in suitable habitat for the oak-hickory forest type, based on environmental variables …


Unraveling The Unknown: Characterization Of A Novel Antimicrobial Compound Found In Klebsiella Pneumoniae, Jasmal Cruz Perez May 2025

Unraveling The Unknown: Characterization Of A Novel Antimicrobial Compound Found In Klebsiella Pneumoniae, Jasmal Cruz Perez

Electronic Theses and Dissertations

Klebsiella pneumoniae, a pathogenic bacterium resistant to numerous antimicrobials, is a worldwide health issue due to its ability to cause healthcare-associated diseases such as pneumonia and urinary tract infections. This study investigated an antimicrobial compound secreted by K. pneumoniae. The compound was found to possess inhibitory activity against Enterobacteriaceae members, including other Klebsiella pneumoniae strains, Citrobacter freundii, and Enterobacter cloacae. The inhibitory activity is mediated via a secreted protein that is active across a wide range of pH and temperature conditions. Higher concentrations of the compound enhanced antimicrobial activity. The antimicrobial protein suppressed biofilm formation during both …


Inner Bonds, Caitlin M. Maltbie May 2025

Inner Bonds, Caitlin M. Maltbie

Electronic Theses and Dissertations

The artist, Cait Maltbie, discusses their Master of Fine Arts exhibition, Inner Bonds, which was installed at Slocumb Galleries in Johnson City, TN, from March 24, 2025, through April 4, 2025, with a public reception held on March 27, 2025. The exhibition consisted of multi-disciplinary work: zines, screenprints, and a sculptural installation mimicking the scenery and emotional environment of the imaginary Inner Bonds world. Inner Bonds refers to their comic series about feelings and how they are handled, from which all the content for this exhibition is derived. The work is focused on deconstructing the artist’s feelings so that they …


Kinetic Analysis Of Hydrolysis And Hydrothermal Conversion Of Methyl Cellulose To Dodecane, Joseph Olembo Were May 2025

Kinetic Analysis Of Hydrolysis And Hydrothermal Conversion Of Methyl Cellulose To Dodecane, Joseph Olembo Were

Electronic Theses and Dissertations

Environmental pollution due to emission of greenhouse gases and increasing global energy demand are some of the concerns associated Analysis with the use of fossil fuels. These concerns have triggered the exploration of sustainable and efficient methods for renewable energy production. One such method is the conversion of cellulosic biomass to hydrocarbon fuels using hydrogen bronze metals. Cellulose is the most abundant biomass globally, and thus its utilization can lead to more sustainable energy production. Previous studies have reported the conversion of cellulose to hydrocarbons at high temperatures and hydrogen pressure. This work focuses on the conversion of methyl cellulose …


A Kinetic Analysis On Hydrolysis And Hydrothermal Conversion Of Cellulose To Dodecane, Joel Nyangoka Onyancha May 2025

A Kinetic Analysis On Hydrolysis And Hydrothermal Conversion Of Cellulose To Dodecane, Joel Nyangoka Onyancha

Electronic Theses and Dissertations

Cellulose, the most abundant biomass on Earth, offers a promising pathway for alternative energy through conversion into alkane hydrocarbons. Traditional methods rely on high temperatures and high-pressure hydrogen, often derived from petroleum. In this study, we investigated the conversion of Microcrystalline Cellulose using hydrogen metal oxides (bronzes) under milder conditions. Following ASTM E3417-24 hydrolysis protocols, we employed hydrogen bronzes with toluene for product extraction. This approach enabled conversion at lower temperatures without pressurized hydrogen. Products were analyzed using Gas Chromatography Mass Spectrometer for identification and Gas Chromatography Flame Ionization Detector for quantification. Our findings revealed the formation of a possible …


Beyond Just The Negros’ Art: Langston Hughes And The Poetic Renewal Of Black Musical Tradition, Samuel Adewumi May 2025

Beyond Just The Negros’ Art: Langston Hughes And The Poetic Renewal Of Black Musical Tradition, Samuel Adewumi

All Theses

Where do we begin the study of Black music in America? Is there even a beginning to it? As a poet, how does Langston Hughes contribute to its continuance during the Harlem Renaissance? These are some of the questions that shape the trajectory of this research. In it, I set a precedent for African orature in future studies of Black music in America. Essentially, I trace the survival of African orature and Langston Hughes’s role in the sustenance and utility of its style and themes in the early 20th century. Through it, I argue that Hughes’s poetry serves not as …


Thymosin Beta-4: A Novel Treatment For Acanthamoeba Keratitis, Victoria A. Murphey May 2025

Thymosin Beta-4: A Novel Treatment For Acanthamoeba Keratitis, Victoria A. Murphey

All Theses

Acanthamoeba keratitis (AK) is a severe corneal infection caused by the free-living amoeba, Acanthamoeba. Both stages of its life cycle (trophozoite and cyst) cause infection, primarily in contact lens wearers. It is often misdiagnosed, leading to delayed treatment and poor clinical outcomes. Current treatment options for AK rely on anti-amoebic agents that are toxic to corneal epithelial cells. Further, no single drug can eliminate both forms of the amoeba. Approximately 30% of all AK infections require a corneal transplant.

Thymosin beta-4 (Tβ4) is a G-actin binding protein synthesized in almost all human cells, including corneal epithelial cells. Tβ4 exhibits …


African Sleeping Sickness: From Basic Biology To Future Directions, Riddhi R. Patel May 2025

African Sleeping Sickness: From Basic Biology To Future Directions, Riddhi R. Patel

All Theses

African Sleeping Sickness is a Neglected Tropical Disease (NTD) which poses a significant health risk to impoverished populations in 36 Sub-Saharan African countries. It is a devastating disease caused by the protozoan parasite Trypanosoma brucei, which is transmitted to mammals via the bite of infected tsetse flies. The disease manifests in two stages: the hemolymphatic stage and the meningoencephalitic stage. In the latter stage, it invades the Central Nervous System (CNS) and can be fatal if left untreated. It is caused by morphologically indistinguishable species of Trypanosoma brucei in both humans and animals, where in humans it is known as …


Graph Based Deep Reinforcement Learning Aided By Transformers For Multi-Agent Cooperation, Michael S. Elrod May 2025

Graph Based Deep Reinforcement Learning Aided By Transformers For Multi-Agent Cooperation, Michael S. Elrod

All Theses

Mission planning for a fleet of cooperative autonomous drones in applications that involve serving distributed target points, such as disaster response, environmental monitoring, and surveil- lance, is challenging, especially under partial observability, limited communication range, and uncertain environments. Traditional path-planning algorithms struggle in these scenarios, particu- larly when prior information is not available. To address these challenges, I propose an innovative framework that integrates Graph Neural Networks (GNNs), Deep Reinforcement Learning (DRL), and transformer-based mechanisms for enhanced multi-agent coordination and collective task ex- ecution. My approach leverages GNNs to model agent-agent and agent-goal interactions through adaptive graph construction, enabling efficient …


"All The Songs I Stole": Ballad Collection And The Conditions Of Collective-Making In Johnny Cash's Prison Concert-Albums, Camryn J. Bruce May 2025

"All The Songs I Stole": Ballad Collection And The Conditions Of Collective-Making In Johnny Cash's Prison Concert-Albums, Camryn J. Bruce

All Theses

In the mid-to-late twentieth century, singer-songwriter Johnny Cash recorded and released three live prison concert-albums composed of many ballads and songs drawing upon a ballad tradition. I question the degree to which these albums, as performed and commercialized ballad collections, create realities of unity between Cash and his audiences. Reviewing three ballads for their aspects of balladry and performance, this thesis finds that Cash’s albums echo and make echoes of isolating conditions and possible collectivities, demonstrating a fragility of “folk” in the shifting scenes of music and prison.


Gene Editing Combined With Apap Diet-Mediated Selection In A Ldlr-/- Mouse Model Of Familial Hypercholesterolemia, Pramita Suresh May 2025

Gene Editing Combined With Apap Diet-Mediated Selection In A Ldlr-/- Mouse Model Of Familial Hypercholesterolemia, Pramita Suresh

All Theses

Cell-based gene therapy has garnered significant interest in treating familial hypercholesterolemia (FH), an autosomal co-dominant disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. However, achieving a therapeutic threshold level of engraftment of gene-modified cells is a significant hurdle. In FH, as in most liver diseases, the transplantation of healthy gene-modified hepatocytes does not result in a selective advantage for the healthy hepatocytes over native hepatocytes for clonal expansion in the liver. In FH, as in most liver diseases, the transplantation of healthy gene-modified hepatocytes does not provide a selective advantage for the healthy hepatocytes over native hepatocytes regarding clonal …


Divergence-Free Smoothed Particle Hydrodynamics In A Stream Digital Twin, Austin Hartley May 2025

Divergence-Free Smoothed Particle Hydrodynamics In A Stream Digital Twin, Austin Hartley

All Theses

Digital Twins (DT) are being explored by the South Carolina (SC) water community to simulate how SC streams will flow at various water levels. Currently, a DT called Gilligan simulates these streams utilizing weakly-incompressible Smoothed Particle Hydrodynamics (SPH). This method does not strictly enforce incompressibility, which leads to unrealistic water flows and unwanted visual artifacts that require post-processing effects to hide. To address these problems and simulate more realistic water flows, the Gilligan stream logic is updated and a state-of-the-art SPH method that enforces incompressibility—Divergence-Free SPH (DFSPH)—is implemented within the Gilligan framework. DFSPH is able to make use of two …


Development Of Aczel-Alsina Aggregation Operators In Neutrosophic Cubic Sets For Multi-Expert And Multi-Criteria Weighting: Optimizing Alternative Fuel Technology Selection, Majid Khan, Muhammad Gulistan, Aitazaz A. Farooque, Mohammed M. Al-Shamiri, Witold Pedrycz May 2025

Development Of Aczel-Alsina Aggregation Operators In Neutrosophic Cubic Sets For Multi-Expert And Multi-Criteria Weighting: Optimizing Alternative Fuel Technology Selection, Majid Khan, Muhammad Gulistan, Aitazaz A. Farooque, Mohammed M. Al-Shamiri, Witold Pedrycz

Neutrosophic Systems with Applications

Managing vague and uncertain data has long been a challenge in decision-making (DM), particularly in scenarios where criteria and expert assessments play a critical role. This paper introduces operational laws based on Aczel-Alsina (AA) norms within Neutrosophic Cubic Sets (NCS) to more effectively handle uncertainty. Leveraging these operational laws, we propose two aggregation operators: the Neutrosophic Cubic Aczel-Alsina Weighted Averaging (NCAAWA) and the Neutrosophic Cubic Aczel-Alsina Weighted Geometric (NCAAWG) operators. These provide a comprehensive approach to data aggregation, preserving both additive and multiplicative influences on outcomes in complex systems. In DM, the importance of weights is paramount, and we introduce …


Nature Of Smartphone Use: The Underlying Mechanisms Between Nature Exposure And Urge To Use Social Media, Jia Yi Aw May 2025

Nature Of Smartphone Use: The Underlying Mechanisms Between Nature Exposure And Urge To Use Social Media, Jia Yi Aw

Dissertations and Theses Collection (Open Access)

The urge to use social media is prevalent and costly in modern society. However, little has been researched on how nature exposure can manage urge to use social media to combat its negative consequences. It was hypothesized that nature exposure through Instagram posts in Study 1 and nature park in Study 2 reduces urge to use social media. The underlying mechanisms were tested in a theory-driven serial mediation model, in which positive emotions, attention restoration and self-regulation served as serial mediators. Study 1 employed Instagram experimental manipulation in a laboratory setting by randomly assigning 206 undergraduates to view Instagram accounts …


Environmental Influences Of Zero-Sum Thinking And Its Outcome, Edison Sora Tan May 2025

Environmental Influences Of Zero-Sum Thinking And Its Outcome, Edison Sora Tan

Dissertations and Theses Collection (Open Access)

Zero-sum thinking refers to a generalized mentality or a belief that one person’s gain can only come at the expense of another person’s loss. In this research, I argue that people’s zero-sum thinking is, at least in part, influenced by the interacting characteristics of the environment, namely, resource scarcity and population density. This is because resource scarcity highlights people’s resource insecurity, particularly when population density accentuates potential competition for finite resources. Consequently, zero-sum thinking reduces trust and cooperation as people reduce their commitment to potentially risky social investments. Analysis with data from a large-scale field study and ecological data provided …


What Makes An Experience Meaningful: A Process/Outcome Approach, Clement Yong Hao Lau May 2025

What Makes An Experience Meaningful: A Process/Outcome Approach, Clement Yong Hao Lau

Dissertations and Theses Collection (Open Access)

Scant research has investigated how meaning judgement of an experience are derived; even fewer has examined how these judgements shift over time. To address these gaps, the present research introduced Process/Outcome Meaning Model (POMM)—which proposes that meaning can be derived from two distinct aspects of an experience: its process (i.e., the thoughts, feelings, and behaviors that unfold during the experience) and its outcome (i.e., the results or consequences that follow). POMM further suggests that changes in perceived outcomes may lead to corresponding shifts in meaning judgements over time. Across three studies, participants wrote about and reflected on their personal (positive …


Those Magnificent Men In Their Fighting Machines: An Investigation Into The Lives Of Wwi Tankmen, Lucas C. Campbell May 2025

Those Magnificent Men In Their Fighting Machines: An Investigation Into The Lives Of Wwi Tankmen, Lucas C. Campbell

Master's Theses

This thesis will look at the immense backlog of war diaries, journals, personal letters, government documentation, and oral histories left behind by British tank crewmen of the First World War. The purpose of this investigation is mainly to uncover the reasons that individuals were chosen for transferal into the Royal Tank Regiment, where they were transferred from, what their training consisted of before their deployment, and their combat history once they were sent into the battlefields on the Western Front. The goal of this project is to gauge the reaction to the emergence of this crucially important technology on a …


Clinical, Immunologic, And Genetic Characteristics Of 148 Patients With Natural Killer Cell Deficiency, Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, Ivan K Chinn, Lisa R Forbes Satter, Nicholas L Rider, Pinaki P Banerjee, M Cecilia Poli, Sanjana Mahapatra, Debra Canter, Tram Cao, Linda M Shawver, Sarada L Nandiwada, James R Lupski, Jennifer E Posey, Rajasekhar Ramakrishnan, Emily M Mace, Jordan S Orange May 2025

Clinical, Immunologic, And Genetic Characteristics Of 148 Patients With Natural Killer Cell Deficiency, Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, Ivan K Chinn, Lisa R Forbes Satter, Nicholas L Rider, Pinaki P Banerjee, M Cecilia Poli, Sanjana Mahapatra, Debra Canter, Tram Cao, Linda M Shawver, Sarada L Nandiwada, James R Lupski, Jennifer E Posey, Rajasekhar Ramakrishnan, Emily M Mace, Jordan S Orange

Faculty, Staff and Students Publications

Background: Natural killer (NK) cell deficiency (NKD) is an immunodeficiency phenotype in which abnormality of NK cells is the major clinically relevant immune defect.

Objective: We sought to define the clinical, immunologic, and genetic characteristics of patients with NKD to aid in the understanding of these individuals and this cell type and guide future research and clinical practice.

Methods: During 2006-2022, 168 individuals with a suspected diagnosis of NKD were enrolled, with comprehensive clinical, immunologic, and genetic data collected and analyzed. Research exome sequencing was performed to identify both known and novel genetic associations.

Results: NK cell abnormalities consistent with …


Functional Consequences Of Lysine Acetylation Of Phosphofructokinase Isozymes, Xinyu Lin, Nour Fatema, Qinglei Gan, Chenguang Fan May 2025

Functional Consequences Of Lysine Acetylation Of Phosphofructokinase Isozymes, Xinyu Lin, Nour Fatema, Qinglei Gan, Chenguang Fan

Chemistry & Biochemistry Faculty Publications and Presentations

Phosphofructokinase (Pfk) catalyzes the phosphorylation of fructose 6-phosphate and is a key regulatory point in the glycolysis pathway. Multiple lysine residues in both Pfk isozymes, PfkA and PfkB, have been identified to be acetylated in Escherichia coli by proteomic studies, but no studies have been implemented to further characterize these acetylation events. To investigate the role of Pfk acetylation, the genetic code expansion strategy was used to generate homogeneously acetylated Pfk variants at target lysine sites that have been reported to be acetylated in nature. We found that acetylation of K309 of PfkA and K27 of PfkB decreased PfK enzyme …


The Contribution Of De Novo Coding Mutations To Meningomyelocele, Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Krisha Bagga, Niyati Banka, Liana Friedman, Francisco A Blanco, Seyoung Yu, Soeun Rhee, Hui Su Jeong, Isaac Plutzer, Michael B Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E Ashley-Koch, Richard H Finnell, Joan T Le, Hal S Meltzer, Camila Araujo, Helio R Machado, Roger E Stevenson, Anna Yurrita, Sara Mumtaz, Awais Ahmed, Mulazim Hussain Khara, Osvaldo M Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Ahmed I Marwan, Valeria Capra, Mahmoud M Noureldeen, Aida M S Salem, Mahmoud Y Issa, Maha S Zaki, Libin Xu, Ji Eun Lee, Donghyuk Shin, Anna Alkelai, Alan R Shuldiner, Stephen F Kingsmore, Stephen A Murray, Heon Yung Gee, W Todd Miller, Kimberley F Tolias, John B Wallingford, Spina Bifida Sequencing Consortium, Sangwoo Kim, Joseph G Gleeson May 2025

The Contribution Of De Novo Coding Mutations To Meningomyelocele, Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Krisha Bagga, Niyati Banka, Liana Friedman, Francisco A Blanco, Seyoung Yu, Soeun Rhee, Hui Su Jeong, Isaac Plutzer, Michael B Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E Ashley-Koch, Richard H Finnell, Joan T Le, Hal S Meltzer, Camila Araujo, Helio R Machado, Roger E Stevenson, Anna Yurrita, Sara Mumtaz, Awais Ahmed, Mulazim Hussain Khara, Osvaldo M Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Ahmed I Marwan, Valeria Capra, Mahmoud M Noureldeen, Aida M S Salem, Mahmoud Y Issa, Maha S Zaki, Libin Xu, Ji Eun Lee, Donghyuk Shin, Anna Alkelai, Alan R Shuldiner, Stephen F Kingsmore, Stephen A Murray, Heon Yung Gee, W Todd Miller, Kimberley F Tolias, John B Wallingford, Spina Bifida Sequencing Consortium, Sangwoo Kim, Joseph G Gleeson

Faculty, Staff and Students Publications

Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained1. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele2. Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or …