Digital Commons Network^™

Blood-Red And Flaming And True, Kate Gaskin

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

Blood-Red and Flaming and True contains poems that explore the immense feelings of love and loss tied to the relationship between parent and child. They chronicle my experience raising a neurodivergent child, as well as undergoing infant loss and navigating a U.S. medical system that is renowned for putting women and people capable of giving birth—especially BIPOC—at greater risk than other countries with similar resources. Through poems that inhabit a variety of forms, I sift through grief and joy while attempting to tap into the sublime state that underlies extreme loss and love. Throughout, I investigate how lyric poetry is …

Molecular Determinants Of Sotorasib Clinical Efficacy In Krasg12c-Mutated Non-Small-Cell Lung Cancer, Ferdinandos Skoulidis, Bob T Li, Adrianus Johannes De Langen, David S Hong, Herve Lena, Juergen Wolf, Grace K Dy, Alessandra Curioni Fontecedro, Pascale Tomasini, Vamsidhar Velcheti, Anthonie J Van Der Wekken, Christophe Dooms, Luis Paz-Ares Rodriguez, Giannis Mountzios, Adrian Sacher, Ernest Nadal, Sebastien Couraud, Sang-We Kim, Kenneth O'Byrne, Danilo Rocco, Ryo Toyozawa, Izabela Chmielewska, Colin R Lindsay, Antreas Hindoyan, Lata Mukundan, Tomasz Wilmanski, Abraham Anderson, Christine Ardito-Abraham, Amrita Pati, Anita Reddy, Bhakti Mehta, Martin Schuler

Faculty, Staff and Student Publications

Molecular determinants of KRAS(G12C)inhibitor efficacy in KRASG12C-mutated non-small-cell lung cancer (NSCLC) remain poorly characterized. Here we report one of the largest integrated analyses to date of sotorasib clinical efficacy biomarkers from the phase 2 CodeBreaK 100 and phase 3 CodeBreaK 200 studies. We reveal differential sotorasib activity and relative benefit compared to docetaxel across KRASG12C-mutated NSCLC co-mutational subsets and transcriptional subtypes. We also identify low expression of TTF1 and KEAP1 co-mutations/NRF2 activation as major determinants of sotorasib anti-tumor efficacy and adverse prognostic features. Exploratory analyses highlight potential tumor cell-extrinsic contributors to sotorasib anti-tumor activity and suggest …

Computed Tomography Radiomics-Based Cross-Sectional Detection Of Mandibular Osteoradionecrosis In Head And Neck Cancer Survivors, Serageldin Kamel, Laia Humbert-Vidan, Zaphanlene Kaffey, Sarah Mirbahaeddin, Abdulrahman Abusaif, David T A Fuentes, Kareem Wahid, Cem Dede, Mohamed A Naser, Renjie He, Ahmed W Moawad, Khaled M Elsayes, Melissa M Chen, Adegbenga O Otun, Jillian Rigert, Mark S Chambers, Andrew Hope, Erin Watson, Kristy K Brock, Katherine Hutcheson, Lisanne Van Dijk, Amy C Moreno, Stephen Y Lai, Clifton D Fuller, Abdallah S R Mohamed, Md Anderson Head And Neck Cancer Symptom Working Group

Faculty, Staff and Student Publications

Purpose: This study aims to identify radiomic features from contrast-enhanced CT (CECT) scans that differentiate osteoradionecrosis (ORN) from normal mandibular bone in head and neck cancer (HNC) patients treated with radiotherapy (RT).

Materials and methods: CECT images from 150 patients with confirmed ORN diagnosis (2008-2018) at MD Anderson Cancer Center (MDACC) were analyzed (80 % train, 20 % test). Radiomic features were extracted using PyRadiomics from manually segmented ORN regions and automated contralateral healthy mandible regions. Correlation analysis (r > 0.95) reduced features for model training. A random Forest (RF) classifier with Recursive Feature Elimination identified discriminative features. Explainability was assessed …

Mitophagy’S Impacts On Cancer And Neurodegenerative Diseases: Implications For Future Therapies, Jason Huang, Vincent Truong Pham, Shaozi Fu, Gang Huang, Ya-Guang Liu, Lei Zheng

Faculty, Staff and Student Publications

Substantial evidence supports an inverse relationship between cancer and neurodegenerative diseases (NDDs), but few studies investigate the biological mechanisms underlying this phenomenon. While previous explanations-such as inflammation, reactive oxygen species (ROS), genetic mutations, and cell death-remain significant, they ultimately converge on mitophagy. This review identifies mitophagy as a pivotal factor in the development of both cancer and NDDs, while also evaluating specific mechanisms and processes to clarify how mitophagy connects these opposing disease trajectories. By examining these factors, we aim to uncover the underlying mechanisms that explain the inverse relationship between cancer and NDDs, which will help develop therapeutic strategies …

The Real Story Of “The Happy Mother”: A Narrative Inquiry Exploring The Construction Of Motherhood And Postpartum Depression, Elizabeth Erin Falconer

Seton Hall University Dissertations and Theses (ETDs)

The transition to motherhood is a complex and challenging period, during which mothers undergo a considerable number of biological, hormonal, and identity changes. The first six to eight weeks following childbirth is a time of great susceptibility to postpartum depression for mothers. Despite its prevalence, there is a lack of research beyond the biological understanding of the experience. Prior literature has examined the biological aspects of postpartum depression and its societal influences on motherhood. However, no prior study has explored how postpartum depression impacts mothers’ construction and understanding of motherhood through investigating their subjective, lived experiences. This study fills that …

Seeking Existential Meaning In The “Sea Of Trees:” A Qualitative Exploration In The Depths Of Japan’S Aokigahara “Suicide” Forest, Sophia Bates

Masters Theses, 2020-current

This thesis explores the intercultural perceptions of suicidality and the role that these perceptions have on meaning of life in Japanese culture through an exploratory, autoethnographic analysis of my journey walking through Japan’s Aokigahara “suicide” Forest. In June 2024, I traveled to Fujikawaguchiko, Japan to conduct an autoethnographic analysis of my experiences walking through Aokigahara Forest using shinrin-yoku and mindful walking (Jung, 2014) as supplemental research methodologies to make empirical observations and take notes on my journey walking through suicide forest as an embodied sensory experience. Drawing upon the research and ideas of cultural anthropologist and existential philosopher Ernest Becker, …

Enhancing Postpartum Depression Screening Rates: An Educational Intervention For Primary Care Pediatric Providers: A Quality Improvement Project, Jasmine Shaterra Jones

Doctor of Nursing Practice Projects

This quality improvement (QI) project sought to increase postpartum depression (PPD) screening rates at a single pediatric primary care practice setting by implementing an educational intervention for pediatric providers. Postpartum depression is a common and debilitating mental health condition affecting many mothers worldwide. Postpartum depression impacts many women in the United States and affects all ethnicities, although rates may vary based on demographic and socioeconomic factors. Despite the American Academy of Pediatrics' recommendations for maternal PPD screening at one, two, four, and six months, well-child visits, national screening rates remain low, with a large number of cases undiagnosed. The current …

Improving Hiv Pep Patient Follow-Up Appointment And Laboratory Testing In A Telehealth Setting: A Quality Improvement Project, Ralston Lockett

Doctor of Nursing Practice Projects

The ongoing HIV epidemic in the United States highlights the need for innovative prevention strategies, including non-occupational post-exposure prophylaxis (nPEP). This Doctor of Nursing Practice (DNP) project evaluated a telehealth-based intervention aimed at increasing HIV PEP follow-up appointments and laboratory completion rates, while also enhancing provider knowledge. Dual interventions included a patient reminder system and provider education. While provider knowledge significantly improved post-intervention, based on Cohen’s d effect size of 0.62, clinical significance was demonstrated by follow-up appointment rates declining from 44% pre-intervention to 41% post-intervention. Laboratory completion rates also decreased, with 53% of patients completing labs pre-intervention compared to …

The Impact Of Mindfulness Therapy To Reduce Disruptive Behavior In High School, Wendy Nell Peters

Electronic Theses and Dissertations

The aim of this project was to determine the impact and effectiveness of Gina Biegel’s mindfulness techniques for stressed teens method on adolescent anxiety and the disruptive symptoms that lead to high school adolescents being assigned to detention. This project described a quantitative correlational design research project that investigated a small adolescent sample size, with a goal of decreasing the number of local high school adolescent students who are repeat detention offenders, by implementing Gina Biegel’s mindfulness techniques for stressed teens method on those high school adolescents who were assigned to detention. This was achieved by collecting demographic data from …

Rebounds Reconsidered: Exploring Perceived Causes And Consequences Of People's Beliefs About Rebound Relationships, Hunter Krampe

All-Inclusive List of Electronic Theses and Dissertations

Romantic breakups are common and can significantly impact emotional well-being. Many individuals enter rebound relationships despite the prevailing belief that these relationships are disingenuous or unhealthy. While limited empirical research exists, some studies suggest rebound relationships may have positive effects, contradicting common advice. This study examined perceptions of rebound relationships, assessing whether individuals who entered a new relationship shortly after a breakup (3 weeks) were perceived more negatively than those who waited longer (3 months). Using a 2x2 experimental design, participants rated targets on emotional state, personality traits, and expected relationship stability. Results indicated that rebounders were not perceived as …

Adiponectin-Regulated Macrophage Responses In Aspergillus Fumigatus Infection: Mechanisms Of Uptake And Killing, Sri Harshini Goli

All-Inclusive List of Electronic Theses and Dissertations

Invasive aspergillosis (IA), caused by Aspergillus fumigatus, is a life-threatening infection in immunocompromised individuals, necessitating novel host-directed therapies. Macrophages are pivotal in antifungal defense, yet their function can be dysregulated; the influence of the adipokine adiponectin (APN) on this process is not fully understood. This thesis investigated the role of APN signaling in alveolar macrophage (AM) and bone marrow-derived macrophage (BMDM) responses to A. fumigatus and assessed the therapeutic potential of the APN receptor agonist, AdipoRon. Initial studies revealed that genetic deficiency in APN or its receptors renders AMs intrinsically pro-inflammatory and significantly impaired fungicidal activity against A. fumigatus. Subsequent …

Dermatoglyphic Fluctuating Asymmetry In Schizotypy, Marcus R. Thomas

All-Inclusive List of Electronic Theses and Dissertations

Schizotypy has been linked with many of the proposed endophenotypes of schizophrenia, but research is limited on the relationship between schizotypy and dermatoglyphic fluctuating asymmetry. The present study sought to examine relationships between schizotypy, dermatoglyphic fluctuating asymmetry, handedness, and season of birth. 146 undergraduate students were identified as schizotypes (n = 52) or controls (n = 94) based on the Multidimensional Schizotypy Scale and had their finger and palm prints collected along with completing additional measures of schizotypy and handedness. Schizotypes did not exhibit a greater degree of dermatoglyphic fluctuating asymmetry, negative schizotypy was associated with increased absolute finger ridge …

Rapid Dissection And Dissociation Of The Mouse Olfactory Epithelium For Single-Nucleus Suspensions, Benjamin D W Belfort, Anthony M Insalaco, Claude C Chew, Johnathan D Jia, Julia Younis, Benjamin R Arenkiel

Duncan NRI Faculty and Staff Publications

The murine olfactory epithelium is the initial entry point of the olfactory system, housing various cell types that include olfactory sensory neurons, their regenerating progenitors, and support cells. Olfactory sensory neurons transduce chemical odorants into neural signals, yet the mechanisms underlying how these cells develop and turnover, create synapses with the olfactory bulb, and regulate their odorant receptors remain areas of intense study. Located on the dorsal aspect of the nasal cavity, the olfactory epithelium adheres to intricate bony structures known as turbinates. This anatomy poses unique challenges for its extraction and dissociation, especially in the context of preparing viable …

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. …

Multivariate Optical Imaging Of The Oxygen-Metabolism Axis, Jesse D. Ivers

Graduate Theses and Dissertations

Metabolic reprogramming is a characteristic hallmark of multiple pathologies and promotes disease progression, survival, and severity. Current methods to investigate metabolic reprogramming, however, require reductions of dimensionality both because of instrumentation limitations and analysis tools. This work aims to define a blueprint for high dimensional study of the oxygen metabolism axis to enable more sensitive study metabolic reprogramming. We hypothesized (1) multivariate imaging of metabolic and oxygenation metrics in ex vivo tissue sections would elucidate differences in resistant and sensitive head and neck squamous cell carcinoma (HNSCC) xenografts that traditional uni-variate methods miss and (2) an engineered hyperspectral darkfield microscopy …

Effects Of Flavonoids On Reducing Colon Cancer Risk Via Macrophage Polarization, Gracien Jules

Graduate Theses and Dissertations

Colorectal cancer is one of the most fatal diseases in the United States. Chronic tissue inflammation can cause cell proliferation, which leads to tumor formation and cancer development. Macrophages are responsible for maintaining tissue homeostasis and for inflammatory responses. M1 macrophages exhibit proinflammatory responses while M2 macrophages exhibit anti-inflammatory responses. Imbalance between M1 and M2 macrophages is closely related to inflammation-associated disease development. The anti-inflammatory effects of apiaceous vegetable constituents, specifically flavonoids, have been studied for their preventative effects towards reducing disease risk. However, sufficient evidence is lacking on the mechanisms by which flavonoids impact M1/M2 macrophage polarization. RAW 264.7 …

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 …

'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 …

Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Joel S Perlmutter, Et Al.

2020-Current year OA Pubs

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 …

Longer Scans Boost Prediction And Cut Costs In Brain-Wide Association Studies, Leon Qi Rong Ooi, Scott Marek, Nico U F Dosenbach, Timothy O Laumann, Evan M Gordon, Et Al.

2020-Current year OA Pubs

A pervasive dilemma in brain-wide association studies

Active Dna Demethylation Upstream Of Rod-Photoreceptor Fate Determination Is Required For Retinal Development, Ismael Hernández-Núñez, Alaina Urman, Xiaodong Zhang, William Jacobs, Christy Hoffmann, Ellen G. Harding, Shiming Chen, Meelad M. Dawlaty, Philip A. Ruzycki, John R. Edwards, Brian S. Clark

2020-Current year OA Pubs

Retinal cell fate specification from multipotent retinal progenitors is governed by dynamic changes in chromatin structure and gene expression. Methylation at cytosines in DNA (5mC) is actively regulated for proper control of gene expression and chromatin architecture. Numerous genes display active DNA demethylation across retinal development; a process that requires oxidation of 5mC to 5-hydroxymethylcytosine (5hmC) and is controlled by the ten-eleven translocation (TET) methylcytosine dioxygenase enzymes. Using an allelic series of conditional TET enzyme mutants in mice, we determine that DNA demethylation is required upstream of NRL and NR2E3 expression for the establishment of rod-photoreceptor fate. Using histological, behavioral, …

Disruption Of The Cerebrospinal Fluid-Plasma Protein Balance In Cognitive Impairment And Aging, Amelia Farinas, Daniel Western, Jigyasha Timsina, Carlos Cruchaga, Et Al.

2020-Current year OA Pubs

The brain barrier system, including the choroid plexus, meninges and brain vasculature, regulates substrate transport and maintains differential protein concentrations between blood and cerebrospinal fluid (CSF). Aging and neurodegeneration disrupt brain barrier function, but proteomic studies of the effects on blood-CSF protein balance are limited. Here we used SomaScan proteomics to characterize paired CSF and plasma samples from 2,171 healthy or cognitively impaired older individuals from multiple cohorts, including the Global Neurodegeneration Proteomics Consortium. We identified proteins with correlated CSF and plasma levels that are produced primarily outside the brain and are enriched for structural domains that may enable their …

Human Thalamocortical Structural Connectivity Develops In Line With A Hierarchical Axis Of Cortical Plasticity, Valerie J Sydnor, Deanna M Barch, Et Al.

2020-Current year OA Pubs

Human cortical development follows a hierarchical, sensorimotor-to-association sequence. The brain's capacity to enact this sequence indicates that it relies on unknown mechanisms to regulate regional differences in the timing of cortical maturation. Given evidence from animal systems that thalamic axons mechanistically regulate periods of cortical plasticity, here we evaluate in humans whether the development of structural connections between the thalamus and cortex aligns with cortical maturational heterochronicity. By deriving a new tractography atlas of human thalamic connections and applying it to diffusion data from three youth samples (8-23 years; total n = 2,676), we demonstrate that thalamocortical connectivity matures in …

The Global Neurodegeneration Proteomics Consortium: Biomarker And Drug Target Discovery For Common Neurodegenerative Diseases And Aging, Farhad Imam, Muhammad Ali, Carlos Cruchaga, Chengran Yang, Et Al.

2020-Current year OA Pubs

More than 57 million people globally suffer from neurodegenerative diseases, a figure expected to double every 20 years. Despite this growing burden, there are currently no cures, and treatment options remain limited due to disease heterogeneity, prolonged preclinical and prodromal phases, poor understanding of disease mechanisms, and diagnostic challenges. Identifying novel biomarkers is crucial for improving early detection, prognosis, staging and subtyping of these conditions. High-dimensional molecular studies in biofluids ('omics') offer promise for scalable biomarker discovery, but challenges in assembling large, diverse datasets hinder progress. To address this, the Global Neurodegeneration Proteomics Consortium (GNPC)-a public-private partnership-established one of the …

Nut Intake, Functional Limitations, And Quality Of Life In Older Adults: Findings From Nhanes 2003–2012, Ilili Feyesa, Elena S. George, David Scott, Gavin Abbott, Jeew Hettiarachchi, Robin M. Daly, Jack Dalla Via, Ekavi N. Georgousopoulou, Sze Yen Tan

Research outputs 2022 to 2026

Background: Increased nut consumption has positive effects on physical and cognitive function, but whether these translate into lower functional limitations in older adults is unknown. The aim of this study was to investigate the association between nut intake, functional limitations, the severity of these limitations and health-related quality of life (HRQOL) in older adults. Methods: This cross-sectional study included data from 5807 adults (53.4% female) aged 60 years and older who participated in the US National Health and Nutrition Examination Survey (NHANES) between 2003 and 2012. Nut intake was assessed using two 24-h dietary recalls. Functional limitations were assessed using …

The Psychiatric Genomics Consortium: Discoveries And Directions, Arpana Agrawal, Cynthia M Bulik, Dawit Shawel Abebe, Ole A Andreassen, Elizabeth G Atkinson, Karmel W Choi, Aiden Corvin, Helena L Davies, Lea K Davis, Anna R Docherty, Howard J Edenberg, Barbara Franke, Joel Gelernter, Paola Giusti-Rodríguez, John M Hettema, Jens Hjerling-Leffler, Hailiang Huang, Emma C Johnson, Cathryn M Lewis, Yi Lu, Mary-Ellen Lynall, Joanna Martin, Andrew M Mcintosh, Janitza L Montalvo-Ortiz, Niamh Mullins, Caroline M Nievergelt, Kevin S O'Connell, Michael C O'Donovan, Adeniran Okewole, Roseann E Peterson, Danielle Posthuma, Jonathan Sebat, Jordan W Smoller, Reeteka Sud, Biju Viswanath, James T R Walters, Hyejung Won, Naomi R Wray, Patrick F Sullivan, Coordinating Committee Of The Psychiatric Genomics Consortium

Faculty, Staff and Students Publications

The Psychiatric Genomics Consortium (PGC) has fueled discoveries of common and rare genetic variation contributing to liability to many psychiatric and neurodevelopmental conditions. This narrative review reflects on major findings from the past half decade of research by this international group of investigators in five priority areas: discovery of common variants using GWAS; rare variation and its interplay with polygenic risk; leveraging genetics to go beyond diagnostic boundaries; ascribing functional attributes to genomic discoveries; and developing and implementing processes for data sharing, outreach to various communities, and training. The insights gained in these domains frame the agenda for the next …

The Microrna Mir-30a Blocks Adipose Tissue Fibrosis Accumulation In Obesity, Pradip K Saha, Robert Sharp, Aaron R. Cox, Rabie Habib, Michael J. Bolt, Jessica B. Felix, Claudia E. Ramirez Bustamante, Xin Li, Sung Yun Jung, Kang Ho Kim, Kai Sun, Huaizhu Wu, Samuel Klein, Sean M. Hartig

2020-Current year OA Pubs

White adipose tissue (WAT) fibrosis occurring in obesity contributes to the inflammatory and metabolic comorbidities of insulin resistance and type 2 diabetes, yet the mechanisms involved remain poorly understood. Here, we report a role for the broadly conserved miRNA miR-30a as a regulator of WAT fibrosis and systemic glucose metabolism. Mice modified to express miR-30a at elevated levels in adipose tissues maintain insulin sensitivity coupled with reduced fatty liver disease when fed a high-fat diet. These effects were attributable to cell-autonomous functions of miR-30a that potently increase expression of adipocyte-specific genes. Proteomic screening revealed miR-30a limits profibrotic programs in subcutaneous …

The Glycosyltransferase Poglut1 Regulates Muscle Stem Cell Development And Maintenance In Mice, Soomin Cho, Emilia Servián-Morilla, Victoria Navarro, Beatriz Rodriguez-Gonzalez, Youxi Yuan, Raquel Cano, Arjun A Rambhiya, Radbod Darabi, Robert S Haltiwanger, Carmen Paradas, Hamed Jafar-Nejad

Faculty, Staff and Students Publications

Mutations in protein O-glucosyltransferase 1 (POGLUT1) cause a recessive limb-girdle muscular dystrophy (LGMDR21) with reduced satellite cell number and NOTCH1 signaling in adult patient muscles and impaired myogenic capacity of patient-derived muscle progenitors. However, the in vivo roles of POGLUT1 in the development, function, and maintenance of satellite cells are not well understood. Here, we show that conditional deletion of mouse Poglut1 in myogenic progenitors leads to early lethality, postnatal muscle growth defects, reduced Pax7 expression, abnormality in muscle extracellular matrix, and impaired muscle repair. Poglut1-deficient muscle progenitors exhibit reduced proliferation, enhanced differentiation, and accelerated fusion into myofibers. Inducible loss …

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 …

The 2024 Think Tank On Prevention Of Sudden Cardiac Death In The Young: Pathway To Survival A Report From The Cardiac Safety Research Consortium, Jordan E Ezekian, Charles C Anderson, Peter F Aziz, Samia Baluch, Stuart Berger, Martha Lopez-Anderson, Vincent Miller, Yoshihide Mitani, Silvana Molossi, Valarie Morrow, Victoria L Vetter, Elizabeth Vickers Saarel, Bhavya Trivedi, Salim F Idriss, 2024 Think Tank Participants

Faculty, Staff and Students Publications

Sudden cardiac arrest and death in the young is a critical public health issue. It occurs in children of any age, sex, racial or ethnic demographic, or socioeconomic status. Importantly, it can affect any individual-athlete and nonathlete alike. Prevention of sudden death in the young is of high importance not only because of the loss of a young life but also because of the substantial impact to families and to society at large. This White Paper summarizes the proceedings of a third national Think Tank on prevention of sudden cardiac death in the young. The Think Tank, which convened on …