Digital Commons Network^™

De Novo And Inherited Dominant Variants In U4 And U6 Snrna Genes Cause Retinitis Pigmentosa, Suzanne E De Bruijn, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K Holtes, Stephen H Tsang, Zelia Corradi, K Bailey Freund, Stefanida Shliaga, Daan M Panneman, Rebekkah J Hitti-Malin, Manir Ali, Ala'a Altalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh D N Astuti, Radha Ayyagari, Sandro Banfi, Eyal Banin, Tahsin Stefan Barakat, Mirella T S Barboni, Miriam Bauwens, Tamar Ben-Yosef, Virginie Bernard, David G Birch, Pooja Biswas, Fiona Blanco-Kelly, Beatrice Bocquet, Camiel J F Boon, Kari Branham, Dominique Bremond-Gignac, Alexis Ceecee Britten-Jones, Kinga M Bujakowska, Cyril Burin Des Roziers, Elizabeth L Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Naomi Chadderton, Peter Charbel Issa, Luísa Coutinho-Santos, Stephen P Daiger, Elfride De Baere, Marieke De Bruyne, Berta De La Cerda, John N De Roach, Julie De Zaeytijd, Ronny Derks, Claire-Marie Dhaenens, Lubica Dudakova, Jacque L Duncan, G Jane Farrar, Nicolas Feltgen, Beau J Fenner, Lidia Fernández-Caballero, Juliana M Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C Gardner, Christian Gilissen, Roser Gonzàlez-Duarte, Kensuke Goto, Sam Griffiths-Jones, Tobias B Haack, Lonneke Haer-Wigman, Alison J Hardcastle, Takaaki Hayashi, Elise Héon, Lies H Hoefsloot, Alexander Hoischen, Josephine P Holtan, Carel B Hoyng, Manuel Benjamin B Ibanez, Chris F Inglehearn, Takeshi Iwata, Brynjar O Jensson, Kaylie Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C W Klaver, Krisztina Knézy, Robert K Koenekoop, Susanne Kohl, Taro Kominami, Laura Kühlewein, Tina M Lamey, Rina Leibu, Bart P Leroy, Petra Liskova, Irma Lopez, Victor R De J López-Rodríguez, Quinten Mahieu, Omar A Mahroo, Gaël Manes, Luke Mansard, M Pilar Martín-Gutiérrez, Nelson Martins, Laura Mauring, Martin Mckibbin, Terri L Mclaren, Isabelle Meunier, Michel Michaelides, José M Millán, Kei Mizobuchi, Rajarshi Mukherjee, Zoltán Zsolt Nagy, Kornelia Neveling, Monika Ołdak, Michiel Oorsprong, Yang Pan, Anastasia Papachristou, Antonio Percesepe, Maximilian Pfau, Eric A Pierce, Emily Place, Raj Ramesar, Francis Ramond, Florence Andrée Rasquin, Gillian I Rice, Lisa Roberts, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Ataf H Sabir, Ai Fujita Sajiki, Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma, Riccardo Sangermano, Cristina M Santos, Margherita Scarpato, Hendrik P N Scholl, Dror Sharon, Sabrina G Signorini, Francesca Simonelli, Ana Berta Sousa, Maria Stefaniotou, Kari Stefansson, Katarina Stingl, Akiko Suga, Patrick Sulem, Lori S Sullivan, Viktória Szabó, Jacek P Szaflik, Gita Taurina, Alberta A H J Thiadens, Carmel Toomes, Viet H Tran, Miltiadis K Tsilimbaris, Pavlina Tsoka, Veronika Vaclavik, Marie Vajter, Sandra Valeina, Enza Maria Valente, Casey Valentine, Rebeca Valero, Sophie Valleix, Joseph Van Aerschot, L Ingeborgh Van Den Born, Mattias Van Heetvelde, Virginie J M Verhoeven, Andrea L Vincent, Andrew R Webster, Laura Whelan, Bernd Wissinger, Georgia G Yioti, Kazutoshi Yoshitake, Juan C Zenteno, Roberta Zeuli, Theresia Zuleger, Chaim Landau, Allan I Jacob, Siying Lin, Frans P M Cremers, Winston Lee, Jamie M Ellingford, David Stanek, Susanne Roosing, Carlo Rivolta

Faculty, Staff and Student Publications

Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, have recently been implicated in neurodevelopmental disorders. Here we show that heterozygous inherited and de novo variants in RNU4-2 and in four RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8 and RNU6-9), which encode U6, recur in individuals with nonsyndromic retinitis pigmentosa (RP), a genetic disorder causing progressive blindness. These variants cluster within the three-way junction of the U4/U6 duplex, …

“I Can’T Just Talk It. I Have To Live It”: The Roles, Needs, And Recruitment Of Recovery Home House Managers, Danielle Gillespie

Faculty, Staff and Student Publications

Introduction: Recovery homes are an increasingly important recovery support service for people with substance use disorders, yet limited research has examined the roles of house managers or how individuals are recruited into these positions. This study examines how house managers understand and enact their roles, how recovery home operators recruit for these positions, and how the demands and sustainability of the role are perceived in practice.

Methods: We conducted a qualitative thematic analysis of interviews with 29 operators and staff working in 10 Level II and Level III recovery homes across five Texas cities.

Results: Findings indicate that house managers …

Advancing Virus-Associated Lymphoma Research In Latin America: A Global Opportunity For Cancer Science, Luis Malpica

Faculty, Staff and Student Publications

No abstract provided.

Recent Abdominal Surgery As A Risk Factor For Unfavorable Immune-Mediated Colitis Outcomes, Varun Vemulapalli Mdi, Irene Jeong-Ah Lee, Andres Caleb Urias Rivera, Carolina Colli Cruz, Bryan Schneider, Shilpa Grover, Aliyah Pabani, Anusha S Thomas, Yinghong Wang

Faculty, Staff and Student Publications

Background and aims: Risk factors for immune checkpoint inhibitor (ICI) therapy enterocolitis (IMC) have not been greatly explored. Abdominal surgery can reduce bacterial diversity, increase the presence of pathogenic bacteria, and lead to inflammatory changes. This retrospective analysis seeks to determine if a history of recent abdominal surgery in patients who receive ICI therapy affects the severity and duration of enterocolitis.

Methods: We retrospectively reviewed patients with history of abdominal surgeries, who received ICI for cancers and then developed IMC. Clinical profiles, oncology variables, and colitis-related characteristics were reported.

Results: Seven hundred sixty-five patients met the inclusion criteria. Patients median …

An Integrated Lifestyle-, Genetic- And Metabolomics-Based Prediction Model For Mild Cognitive Aging In The Hchs/Sol, Robert C Kaplan, Eric Boerwinkle, Qibin Qi, Myriam Fornage, Charles Decarli, Hector M González, Tamar Sofer

Faculty, Staff and Student Publications

Prediction models for cognitive aging measures have largely evaluated demographic variables and APOE carrier status in populations of European ancestry. To comprehensively assess prediction models among Hispanic/Latinos, we considered 12 models (6 predictor sets and 2 methods) for global cognitive score change (GCSC) and mild cognitive impairment (MCI) in the Study of Latinos-Investigation of Neurocognitive Aging (SOL-INCA) (N = 5856). Based on the average mean squared error (MSE) for GCSC or average area under the curve (AUC) for MCI across 100 randomly split testing and training sets, performance was similar across models, but slightly better for the following models: …

Artificial Light At Night Extends Pollen Season And Elevates Allergen Exposure, Franz Hölker

Faculty, Staff and Student Publications

Artificial light at night (ALAN), a growing environmental stressor in urban ecosystems, disrupts natural light-dark cycles and alters plant phenological events such as leaf-out and flowering. However, the extent to which ALAN influences airborne pollen season timing and exacerbates allergy-related health risks remains largely understudied. This study investigates how ALAN influences the timing and duration of the airborne pollen season across the Northeastern United States from 2012 to 2023 and the consequences of allergenic pollen exposure. Using daily pollen concentrations from the National Allergy Bureau, ALAN data from the Visible Infrared Imaging Radiometer Suite product, and gridded Daymet climate data, …

Geospatial Disparities In Adolescent Mental Health Resources: School- And Community-Level Evidence From Travis County, Texas, Eric C Jones

Faculty, Staff and Student Publications

Background: Adolescents in the United States face growing mental health challenges, with nearly one in three high school students reporting poor mental health in the past 30 days. Schools increasingly serve as key access points for mental health care. However, geographic disparities in access to school-based mental health services remain underexplored.

Purpose: This study examines the spatial distribution of adolescent mental health resources in Travis County, Texas, and evaluates how school- and community-level factors are associated with the presence of on-site school social workers.

Methods: School locations, enrollment data, and the presence of on-site social workers were mapped and analyzed …

Advancing Periodic Time Series Analysis: Application, Bias Assessment, And Optimal Window Selection In The Variable Bandpass Periodic Block Bootstrap Method, Yanan Sun

Electronic Theses & Dissertations (2024 - present)

Time series analysis is essential for understanding long-term patterns, periodic behavior, and underlying correlations in complex datasets. The periodically correlated (PC) time series is a type of time series where the correlation structure repeats over fixed intervals. The Variable Bandpass Periodic Block Bootstrap (VBPBB) has recently been proposed as a resampling method that preserves PC structures through the use of periodogram, bandpass filters, and block bootstrap resampling. Although promising, VBPBB remains underutilized, and its limitations have not been fully examined. This dissertation advances both the application and methodological development of the VBPBB.

The first project applies the VBPBB to a …

School-Based Interventions With Youth Engaging In Bullying Behaviors: Effective Strategies From The Perspective Of School Social Workers, Elizabeth A. Crowe

Electronic Theses & Dissertations (2024 - present)

Bullying is a nationally recognized social problem associated with harmful consequences for all youth involved. Despite their crucial role in bullying interventions and student success, the practices and perspectives of school social workers are notably absent from academic literature. This survey research study sought to identify strategies that school social workers use with youth engaging in bullying behavior; distinguish which strategies are the most and least effective from the perspective of school social workers; and recognize the supports and barriers school social workers face when implementing bullying interventions.

Survey data from a sample of school social workers answered these questions. …

The Moderating Effect Of Self-Efficacy On The Relationship Between Social Determinants Of Health And Alcohol Use In A Diverse Adult Sample, Cara L. Fresquez

Electronic Theses & Dissertations (2024 - present)

Heavy alcohol consumption is associated with a range of psychosocial problems and chronic conditions, resulting in approximately 140,000 preventable deaths each year. With these potential consequences in mind, it is understandable that 46% of individuals who consume alcohol report attempting to reduce the quantity of alcohol they drink; however, very few enter formal treatment. Despite this, many people will decrease their heavy drinking over time, presumably due to individual and environmental factors, particularly self-efficacy and protective social determinants of health (SDoH). This study aimed to answer the research question “How is SDoH adversity related to the likelihood of reporting reduced …

Negotiating Quality: A Critical Discourse Analysis Of American Higher Education Policy, John A. Foisy

Electronic Theses & Dissertations (2024 - present)

This qualitative study examined how institutional quality is constructed, communicated, and negotiated through the accreditation process in U.S. higher education. Drawing on a multiple case study design, the research analyzed accreditation-related documents from eight institutions undergoing reaffirmation, including self-study reports, peer review team reports, Commission action letters, and institutional responses. The study was guided by three research questions: (a) What institutional signals of quality are evidenced in self-studies? (b) In what ways does the accreditation process represent a negotiation between accreditors and institutions? (c) What implied views of institutional quality emerge from accreditation discourse?

The study employed a multilayered analytical …

Punishment, Fast And Slow: Five Experiments On Behavioral Economics In The Mass Incarceration Context, Nathaniel M. Schutten

Electronic Theses & Dissertations (2024 - present)

As many jurisdictions across the United States seek to reduce their prison populations, a pressing question is whether the public will support the reforms necessary to do so. Public openness to reform likely varies across policy areas, with the path of least public resistance occurring where attitudes are the most malleable and loosely held. A major challenge, however, is that traditional methods for measuring public opinion are poorly suited to identifying which policy areas are characterized by such weakly held views.

This dissertation develops a novel behavioral economics framework for identifying these areas. I theorize that when public opinion is …

The Maxima Method For Identification Of Principal Periodic Components In Time Series Analysis, Megan Di Maio

Electronic Theses & Dissertations (2024 - present)

This dissertation investigates methods for mean estimation in periodically correlated time series, focusing on the Variable Bandpass Periodic Block Bootstrap (VBPBB) and a novel data-driven maxima method. Time series require specific methods because of the temporal correlation in the data. Traditional methods like the General Seasonal Block Bootstrap (GSBB) account for this correlation but often produce wide confidence intervals because they cannot isolate multiple periodicities, allowing noise and other frequencies to interfere with analysis. The VBPBB method addresses this by applying a Kolmogorov-Zurbenko Fourier Transform (KZFT) filter to the data before bootstrapping, which suppresses interfering frequencies and results in narrower, …

Neural Network Transceiver For Ltv Mimo Channels, Iresha Amarasekara

Electronic Theses & Dissertations (2024 - present)

Eigenfunctions are commonly employed to characterize kernels in various data-driven analyses. In machine learning, eigenfunction decomposition typically relies on Mercer's theorem, which assumes kernel symmetry. However, this condition is often unmet in communication systems, where channel kernels are asymmetric due to differences in downlink and uplink propagation environments. The High-Order Generalized Mercer's Theorem (HOGMT) provides a systematic approach for decomposing multidimensional asymmetric kernels into eigenfunctions. To address the complexity of eigen-decomposition, this work introduces a baseline neural network (NN) framework HNET. The HNET framework is further enhanced by incorporating the augmented Lagrangian method (ALM) to explicitly enforce orthogonality constraints. This …

Adverse Childhood Experiences And Intellectual Disabilities: A Population-Based Comparison, Sarah Hurst, Astrida S. Kaugars

Modern Psychological Studies

Childhood is a critical time for development, and negative experiences during this period may have lasting consequences. Children with intellectual disabilities (ID) are at greater risk for adverse childhood experiences (ACEs) than children without ID. Using data from the 2022 National Survey of Children’s Health (U.S. Census Bureau), we assessed the frequency of ACEs reported based on IDs. Participants were caregivers of 528 children currently diagnosed with an ID and a random sample of 528 children selected from the remaining 49,755 respondents without an ID. As hypothesized, parents of children with ID reported a statistically significant greater number of total …

The Relationship Between Helicopter Parenting And Child Depression And Anxiety: A Literature Review, Leah Wong

Modern Psychological Studies

Child and adolescent mental health have been a subject of increasing concern. Likewise, an emerging pattern of childrearing, known as helicopter parenting, has been gaining attention for its association with negative outcomes. This literature review investigates the relationship between helicopter parenting and children’s depressive and anxious symptoms. The review applies various theories, including parenting styles and self-determination, alongside considerations of early childhood experiences and cultural differences in childrearing. It draws on the current body of research regarding the impacts of such concepts to examine connections between helicopter parenting and child psychopathology. Overall, this literature review found that helicopter parenting impedes …

Parenting For Autonomy: New Insights Into Warmth, Leniency, And Emotion Regulation, Elizabeth O. Arroyo, Ana Paula M. Constantino, Dolly P. Rojo

Modern Psychological Studies

Past parenting research has focused on Maccoby and Martin's (1983) two parenting qualities, Warmth and Demandingness. We know that these can affect several children's outcomes, including academic achievements (e.g., Pinquart, 2016) and self-esteem (Pinquart & Gerke, 2019). Still, we know less about the impacts of parental qualities on children’s autonomy, and even less about the impact that qualities of more modern parenting styles (e.g., emphasis on promotion of emotional regulation skills) might have on children’s outcomes. Our study explores the associations of parent’s Warmth, Demandingness, leniency, and promotion of emotional regulation skills on children’s autonomy. We predicted that parental Warmth, …

Context, Cognition And Convictions: Examining Analytic Versus Holistic Thinking In Police Lineup Identifications, Ellie L. Cotten, Benjamin Terry Sharpe Dr, Roy Spina

Modern Psychological Studies

Eyewitnesses have a significant impact on decisions made by the criminal justice system, and incorrect identifications are a leading cause of unjust convictions. Although many studies have examined the effects of individuals' cognitive approaches (analytic versus holistic) on object recognition, little research has explored these effects in relation to facial recognition. Moreover, no research has explored this phenomenon within the context of police lineup procedures. The aim of this study was to address these gaps and investigate whether there are effects of holism and background condition on identification accuracy and confidence in police lineup procedures. Participants (N = 254) watched …

From Tension To Teaching: Combating Incivility And Bullying Behaviors Directed At Nursing Students, Shelley Dyal

Theses

Background: The phrase “nurses eat their young” has long been used to describe the culture of incivility and bullying often directed at nursing students. These behaviors in the nursing clinical learning environment break down nurse-student relationships. To address this issue, nursing staff must have the tools to fulfill their roles as educators and mentors in clinical settings. The purpose of this project is to implement and evaluate the effectiveness of an evidence-based asynchronous educational workshop focused on incivility reduction and student mentorship among nursing staff in a rural hospital setting.

Methods:  This study used a quantitative, one-group pretest–posttest intervention design …