Genetics and Genomics Commons^™

Assessing Genetic Diversity And Population Structure In The Imperiled Aconitum Reclinatum (White Monkshood), An Endemic Wildflower Of Central Appalachia, Diamanda A. Zizis

Master’s Theses

Aconitum reclinatum, white monkshood (Ranunculaceae), is a Pennsylvania critically imperiled plant species found in five states of the Appalachian region of the United States: Pennsylvania, West Virginia, Virginia, North Carolina, and Tennessee. This plant is adapted to cool, moist environments but faces threats from increasing habitat loss, deer browse, logging, and changes in rainfall and temperature associated with climate change. Comprehensive knowledge of A. reclinatum genetic population structure remains limited. To address this, we collaborated with Natural Heritage programs within the range of A. reclinatum to sample populations across the species distribution and generate a genotyping-by-sequencing data set of …

Methods In Statistics, Machine Learning, And Deep Learning For Combining Multi-Omics Dataset, Md Mutasim Billah

Dissertations, Master's Theses and Master's Reports

Transcriptome-wide association studies (TWAS) have emerged as a powerful strategy to bridge genome-wide association studies (GWAS) with gene regulatory mechanisms by integrating genotypic data with gene expression data. While early TWAS methods typically rely on linear models and single-tissue expression references, recent advances underscore the need for flexible, multi-tissue approaches that can capture heterogeneous regulatory architectures and tissue-specific expression patterns. This dissertation introduces a three‑part research project that advances multi‑tissue transcriptome‑wide association studies (TWAS) along complementary axes of methodology, statistical power, and modelling flexibility.

In chapter One, TWAS‑CTL introduces a two‑stage cross‑tissue learner that trains any user‑chosen single‑tissue imputers (STLs) …

Temporal Dynamics Of Programmed Genome Rearrangement In Sea Lamprey Embryogenesis: A Deep Learning & Lightsheet Imaging Approach To Studying Early Developmental Transitions, Kasturi Rajandran

Theses and Dissertations--Biology

Programmed genome rearrangement (PGR) in the sea lamprey (Petromyzon marinus) leads to the elimination of ~0.5Gb (20%) of the germline genome during early embryogenesis, yet its timing relative to the maternal-to-zygotic transition (MZT) remains unclear. In this study, we imaged embryos cleared at 3-hour intervals (up to 72 hours post fertilization (hpf)) using high-resolution lightsheet fluorescence microscopy and a custom deep-learning image-analysis pipeline (~80% accuracy) to quantify nuclei and micronuclei counts. Micronuclei, which are the hallmarks of PGR first appear between 24 to 27hpf (vs ~36hpf previously reported) indicating PGR starts earlier than previously reported in the sea …

The Adiponectin-Pparγ Axis In Hepatic Stellate Cells Regulates Liver Fibrosis, Shangang Zhao, Qingzhang Zhu, Wang-Hsin Lee, Jan-Bernd Funcke, Zhuzhen Zhang, May-Yun Wang, Qian Lin, Bianca Field, Xue-Nan Sun, Guannan Li, Mbolle Ekane, Toshiharu Onodera, Na Li, Yi Zhu, Christine M. Kusminski, Terry D. Hinds Jr., Philipp E. Scherer

Markey Cancer Center Faculty Publications

Hepatic stellate cells (HSCs) are key drivers of local fibrosis. Adiponectin, conventionally thought of as an adipokine, is also expressed in quiescent HSCs. However, the impact of its local expression on the progression of liver fibrosis remains unclear. We recently generated a transgenic mouse line (Lrat-rtTA) that expresses the doxycycline-responsive transcriptional activator rtTA under the control of the HSC-specific lecithin retinol acyltransferase (Lrat) promoter, which enables us to specifically and inducibly overexpress or eliminate genes in these cells. The inducible elimination of HSCs protects mice from methionine/choline-deficient (MCD) diet-induced liver fibrosis, confirming their causal involvement in fibrosis development. We generated …

Urobilin Derived From Bilirubin Bioconversion Binds Albumin And May Interfere With Bilirubin Interacting With Albumin: Implications For Disease Pathology, Kevin I. Williams, Priyanka Suryadevara, Chang-Guo Zhan, Terry D. Hinds Jr., Zachary A. Kipp

Markey Cancer Center Faculty Publications

Background/Objectives: Bilirubin is a hydrophobic molecule that binds the carrier protein albumin for transport through systemic circulation. Bilirubin is cleared from the body through the liver and excreted into the intestines, where the microbiota modifies the chemical structure, forming urobilin, which can be reabsorbed into circulation by the hepatic portal vein. Urobilin has no known function. It is also unknown whether urobilin binds albumin for transport in circulation. We hypothesized that because of the likeness of their chemical structures, urobilin would also bind albumin like bilirubin does. Methods: First, we used in silico docking to predict if urobilin would bind …

Dissecting The Biophysical Mechanisms Of Oleate Hydratase Association With Membranes, William A. Lathram, Robert J. Neff, Ashley N. Zalla, James D. Brien, Vivekanandan Subramanian, Christopher D. Radka

Markey Cancer Center Faculty Publications

This study investigates the dynamics of oleate hydratase (OhyA), a bacterial flavoenzyme from Staphylococcus aureus, and its interactions with lipid membranes, focusing on the factors influencing membrane binding and oligomerization. OhyA catalyzes the hydration of unsaturated fatty acids, playing a key role in bacterial pathogenesis by neutralizing host antimicrobial fatty acids. OhyA binds the membrane bilayer to access membrane-embedded substrates for catalysis, and structural studies have revealed that OhyA forms oligomers on membrane surfaces, stabilized by both protein-protein and protein-lipid interactions. Using fluorescence correlation spectroscopy (FCS), we examined the effects of membrane curvature and lipid availability on OhyA binding to …

Using Abandoned Model Systems And Historical Literature To Teach Modern Concepts And Techniques In Cell Biology, Leocadia V. Paliulis, Gunar Fabig, Sandra Stein, Silke Tulok, Anja Nobst, Chukwuebuka William Okafornta, Thomas Kurth, Thomas Müller-Reichert

Faculty Journal Articles

The cell biology literature of the 19th and early-to-mid 20th centuries is full of the seminal works that were critical for the development of our current understanding of biology but were done using model systems that are no longer commonly used. We argue that these historical papers are ideal for the development of course-based research experiences, both because the background work is conceptually and technically straightforward, and because the study of the abandoned systems stopped prior to the availability of modern techniques. These abandoned systems offer outstanding opportunities for teaching modern light and electron microscopy techniques, thus providing students with …

Functional Characterization Of The Hdt5 Gene In Aspergillus Flavus Morphogenesis, Mycotoxin Production, And Fungal Phytopathogenicity, Brenda Omburo

Graduate Research Theses & Dissertations

The present study aimed at elucidating the role of hdt5 in fungal morphology, mycotoxin production and in plant virulence in Aspergillus flavus. Currently, methodologies to prevent the negative impact of A. flavus are insufficient. It is known that expression of the hdt5 gene is dependent on hbx1, a master regulatory gene that affects expression of hundreds of genes in the A. flavus genome, controlling both development and secondary metabolism. However, while the aflatoxin gene cluster has been elucidated, the genetic regulatory mechanisms controlled by hdt5 are not fully understood. For this study, therefore, a complete strain set composed of a …

Nature, Nurture, And Serial Murder: A Biocriminological Analysis Of Jeffrey Dahmer And Aileen Wuornos, Dori W. Jal

Honors Thesis

In recent years, there has been an increase in public fascination with serial killers, however current criminological explanations continue to focus on social and psychological factors, lacking commentary on potential biological implications. This thesis addresses a gap in the literature by examining how biological processes, specifically epigenetic, neurobiological, and endocrinological mechanisms, interact with environmental stressors to shape serial homicidal behavior. The goal is to determine whether serial murder can be more effectively understood through a biosocial framework that integrates biological vulnerability with lived experience, rather than relying on singular explanatory models.

Using a qualitative multiple-case study methodology, this research analyzes …

Cath-Ddg: Towards Robust Mutation Effect Prediction On Protein-Protein Interactions Out Of Cath Homologous Superfamily, Guanglei Yu, Xuehua Bi, Teng Ma, Yaohang Li, Jianxin Wang

Computer Science Faculty Publications

Motivation: Protein-protein interactions (PPIs) are fundamental aspects in understanding biological processes. Accurately predicting the effects of mutations on PPIs remains a critical requirement for drug design and disease mechanistic studies. Recently, deep learning models using protein 3D structures have become predominant for predicting mutation effects. However, significant challenges remain in practical applications, in part due to the considerable disparity in generalization capabilities between easy and hard mutations. Specifically, a hard mutation is defined as one with its maximum TM-score < 0.6 when compared to the training set. Additionally, compared to physics-based approaches, deep learning models may overestimate performance due to potential data leakage.

Results: We propose new training/test splits that mitigate data leakage according to the CATH homologous superfamily. Under the constraints of physical …

Influence Of Multi-Species Data On Gene-Disease Associations In Substance Use Disorder Using Random Walk With Restart Models, Erich J. Baker, Everest U. Castaneda, Sharon Moore, Jason A. Bubier, Stephen K. Grady, Michael A. Langston, Elissa J. Chessler

Funded Scholarship

A major challenge lies in discovering, emphasizing, and characterizing human gene-disease and gene-gene associations. The limitations of data on the role of human gene products in substance use disorder (SUD) makes it challenging to transition from genetic associations to actionable insights. The integration of data from multiple diverse sources, including information-dense studies in model organisms, has the potential to address this gap. We demonstrate a modified performance of the Random Walk with Restart algorithm when multi-species data is integrated in the heterogeneous network within the context of SUD. Additionally, our approach distinguishes among disparate pathways derived from the Kyoto Encyclopedia …

Electrochemical Strategies For Microrna Quantification Leveraging Amplification And Nanomaterials: A Review, Alexander Hunt, Gymama Slaughter

Center for Bioelectronics Publications

MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression and have emerged as critical biomarkers in various diseases, including cancer. Their stability in bodily fluids and role as oncogenes or tumor suppressors make them attractive targets for non-invasive diagnostics. However, conventional detection methods, such as Northern blotting, RT-PCR, and microarrays, are limited by low sensitivity, lengthy protocols, and limited specificity. Electrochemical biosensors offer a promising alternative, providing high sensitivity, rapid response times, portability, and cost-effectiveness. These biosensors translate miRNA hybridization events into quantifiable electrochemical signals, often leveraging redox-active labels, mediators, or intercalators. Recent advancements in nanomaterials and signal amplification …

Weighted Family History Density Of Substance Use: Influence On Participant Substance Use Onset, Escalation, And Duration, Carleigh A. Litteral

Theses and Dissertations--Psychology

Substance use disorders impose a staggering toll on the United States (U.S.), straining healthcare systems, destabilizing communities, and profoundly impacting both individuals and families. Approximately one in six Americans aged 12 and older had a past-year substance use disorder in 2022 (Key Substance Use, 2022), and nearly one-third of adults experience a substance use disorder in their lifetime (Wu, 2010), contributing to an economic burden exceeding $400 billion annually (National Drug Threat Assessment, 2011). Family history of substance use disorders is a key predictor of vulnerability, with individuals who have affected relatives being 2–8 times more …

The Effects Of Plx 3397 On Fentanyl Escalation In Male And Female Sprague-Dawley Rats, Jakob Shaykin

Theses and Dissertations--Psychology

Purpose: A hallmark characteristic of opioid use disorder (OUD) is a persons’ ‘loss of control’, which leads to the compulsion to seek and obtain opioids, resulting in increased consumption. This phenomenon is known as ‘escalation of drug intake’. Chronic opioid use causes microglial reactivity and subsequent release of proinflammatory cytokines leading to neuroinflammation, weakening one’s executive control over drug taking and ultimately leading to greater use. Previous research in our laboratory has explored heterogeneity of fentanyl intake in extended access (6-hr) sessions and identified distinct endophenotypes of fentanyl intake. Moreover, we have observed a positive correlation between Treml1 expression …

The Relationship Between Cardiac Patient Beliefs And Experiences With Insurability And Their Decisions On Whether Or Not To Pursue Genetic Testing, Julia Schoeni

Theses and Dissertations

Since the enactment of the Genetic Information Non-Discrimination Act (GINA) in 2008, genetics providers have been incorporating conversations about GINA in pre-test counseling. There is currently limited evidence of the effects of personal or family histories of cardiomyopathy or aortopathy and associated genetic testing on patients seeking insurance policies not protected by GINA, including life, long term care, and disability insurance. This study aimed to determine whether individuals with a personal or family history of cardiomyopathy or aortopathy are having conversations about future insurability with their healthcare providers and how they perceive their ability to get these insurances when deciding …

Factors Influencing Adherence To Surveillance Guidelines In Individuals With Tuberous Sclerosis Complex, Kashish Khanna

Theses and Dissertations

Tuberous Sclerosis Complex (TSC) is a genetic condition that is caused by pathogenic changes in either the TSC1 or TSC2 gene and is characterized by multiple benign tumors, otherwise known as hamartomas, in various organs such as the brain, skin, lungs, and kidneys. Because of the many different clinical manifestations of TSC, extensive surveillance guidelines are recommended for individuals with TSC. Past studies have shown that there has been a gap in knowledge of these surveillance guidelines. These studies also suggest projects that measure adherence to surveillance guidelines and address specific challenges hindering surveillance guideline adherence. This study aims to …

Symbiodiniaceae Shifts Over The Last Decade On The Hottest Coral Reefs On Earth, Anna Fiesinger, Rachel Alderdice, Luigi Colin, Hannah Manns, Gabriela Perna, Kathryn H. Stankiewicz, Jacob J. Valenzuela, Line K. Bay, Daniel J. Barshis, Nitin S. Baliga, Iliana B. Baums, John A. Burt, Christian R. Voolstra

Biological Sciences Faculty Publications

Corals in the Persian/Arabian Gulf (PAG) are resilient to various stressors, whose levels exceed those of coral reefs globally. These corals thereby offer insight into mechanisms underlying thermal resilience, e.g., regarding the role of endosymbiotic microalgae in the family Symbiodiniaceae. Previous studies have identified the thermotolerant species Cladocopium thermophilum as broadly associated with corals in the southern PAG. However, algal-host specificity at the within-species level and the temporal stability of these associations are not well understood. Here we sampled two dominant stony corals (Porites harrisoni, n = 119 and Platygyra daedalea, n = 79) at three sites …

Utilizing Evisits To Increase Access To Genetic Services For The Hearing Loss Population: A Tailored Service Delivery Model, Ansley Roberts

Theses and Dissertations

Purpose: Patients referred for genetics services have specific barriers decreasing accessibility, such as communication difficulties, long wait times, and misconceptions about the utility of genetic testing. We assessed a new tailored service delivery model used by the Greenwood Genetic Center to evaluate patients referred for hearing loss to determine if this model increases access to genetics services for individuals with hearing loss. Methods: Data points such as wait times, testing plan, and diagnostic yield were compiled from patient medical records. Comparison and analysis of data was completed by visit type, in-person, virtual, and electronic visits (eVisits), between October 2023 – …

An Edna Assessment Of The Diamond Darter (Crystallaria Cincotta) In Its Current And Historic Distribution Range, Cameron Moore Layne

Graduate Theses, Dissertations, and Problem Reports (ETD)

Environmental DNA (eDNA) can serve as a useful monitoring tool for cryptic and imperiled freshwater stream fishes. eDNA can fill knowledge gaps regarding species’ distribution, site abundance, and habitat usage. The last known stronghold of the Diamond Darter (Crystallaria cincotta) in the Elk River of West Virginia provides an excellent test case to examine the utility of this non-invasive method of surveying rare species. Diamond Darters are one of the most newly recognized freshwater fishes in North America and are among the most imperiled U.S. fishes, having been federally listed as endangered in 2013. The cryptic behavior and limitations of …

Codon Composition In Human Oocyters Reveals Age-Associated Defects In Mrna Decay, Pavla Brachova, Lane K. Christenson, Nehemiah S. Alvarez

Department of Biomedical and Translational Sciences Faculty Publications

Oocytes from women of advanced reproductive age exhibit diminished developmental potential, but the underlying mechanisms remain incompletely defined. Oocyte maturation depends on translational control of maternal mRNA synthesized during growth. We performed a computational analysis on human oocytes from women < 30 versus ≥40 years and observed that mRNA GC content correlates negatively with half-life in oocytes from young (< 30 yr) but positively with oocytes from aged (>40 yr) women. In young oocytes, longer mRNA half-life is associated with lower protein abundance, whereas in aged oocytes GC content correlates positively with protein abundance. During the GV-to-MII transition, codon composition stratifies stability: codons that support rapid translation (optimal) stabilize mRNA, while slow-translating codons (non-optimal) promote decay. With reproductive aging, GC-containing codons become more optimal and align with increased …

What Are The Genetic Influences Of Alcohol Sensitivity And Alcohol Metabolism? A Narrative Review Of Human Studies, Erwin Murray, Karen G. Chartier Phd, Msw

UROP Posters

Background: Alcohol sensitivity and alcohol metabolism are two phenotypes associated with alcohol use disorder (AUD) influenced by genetics. This narrative review aims to answer “What are the genetic influences of alcohol sensitivity and alcohol metabolism?” to gain a better understanding of the genetic aspects of AUD.

Methods: A database search was performed in PubMed. Empirical human genetic studies published between 2009 and 2025 that focused on alcohol sensitivity (measured by the Self-Rating of the Effects of Alcohol scale) or alcohol-metabolizing genes were eligible for review. Studies were screened to determine inclusion for the current review.

Findings: Fifteen …

Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor

Faculty, Staff and Students Publications

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma). Overexpression of ZIC1 suppresses the growth of group 3 medulloblastoma models, whereas it promotes the proliferation of SHH medulloblastoma precursor cells. SHH medulloblastoma ZIC1 mutants show increased activity versus wild-type ZIC1, whereas G4 medulloblastoma …

Late Diagnosis Of Klinefelter Syndrome: Overcoming Phenotypic Variability And Diagnostic Oversights, Amna Kamran, Chinelo Okigbo

Department of Medicine Faculty Publications

We report a case of Klinefelter syndrome (KS) diagnosed in adulthood, emphasizing the impact of phenotypic variability and the declining reliance on physical examination in delayed recognition. A 27-year-old male with obesity, low libido, and biochemical and clinical primary hypogonadism was found to have 47, XXY karyotype, consistent with KS. His hypogonadism was initially attributed to obesity and overlooked, despite classic signs of a micropenis and small testes. The case highlights the importance of physical examination, comprehensive history, and clinician awareness in diagnosing KS, particularly in atypical presentations. KS is associated with increased risks of osteoporosis, cardiovascular disease, and psychosocial …

Impacts Of Multiple Coastal Stressors Across Life-History Stages In The Eastern Oyster, Amaelia Zyck

Open Access Dissertations

Urbanized estuaries are characterized as a complex of biotic and abiotic stressors, which currently challenge marine life and are expected to intensify and become increasingly unpredictable under the ongoing impacts of climate change. The persistence of coastal species that inhabit these stressful environments will ultimately depend on their ability to adapt. Many of these species have complex life cycles, featuring distinct morphological and physiological developmental stages that can exhibit unique responses to environmental pressures. However, since all stages share the same genome, selective pressures acting on one stage can have cascading effects throughout the life cycle. The larval stage, being …

Copula-Based Bayesian Model For Detecting Differential Gene Expression, Prasansha Liyanaarachchi, N. Rao Chaganty

Mathematics & Statistics Faculty Publications

Deoxyribonucleic acid, more commonly known as DNA, is a fundamental genetic material in all living organisms, containing thousands of genes, but only a subset exhibit differential expression and play a crucial role in diseases. Microarray technology has revolutionized the study of gene expression, with two primary types available for expression analysis: spotted cDNA arrays and oligonucleotide arrays. This research focuses on the statistical analysis of data from spotted cDNA microarrays. Numerous models have been developed to identify differentially expressed genes based on the red and green fluorescence intensities measured using these arrays. We propose a novel approach using a Gaussian …

Hidden Markov Model For Identifying Local Variants In Human Genomes Using Simulated Data, Scott Mccallum

Electronic Theses and Dissertations

Identifying adaptive mutations in genetic data is challenging due to the low frequency of occurrence of such events, and because signatures of selection are intertwined with the footprints of various other evolutionary forces that shape our genomes. Even when a larger region appears to be under selection, genomic sites that are linked to adaptive mutations have similar statistical signals, and thus can obfuscate the identification of the actual adaptive mutation. The new method described here uses a Hidden Markov Model that allows for classification of neutral, linked, and sweep (adaptive mutation) genomic sites. This model is general and can be …

Morphological And Molecular Identification Of Saurida Spp. (Teleostei: Synodontidae) From Saudi Arabia And Indonesia, Muhammad Browijoyo Santanumurti, Suciyono Suciyono, Mohamed Ahmed Abu El-Regal

Makara Journal of Science

Saurida is a unique fishery commodity because it is difficult to differentiate visually. They can be only effectively con-served once accurately identified. This study aimed to determine the morphology and molecular characteristics of Sau-rida spp. from Banyuwangi (Indonesia) and Jizan (Saudi Arabia). Meristic and morphometric analysis was performed for morphological identification, whereas COI gene analysis was performed for molecular identification. Morphological analysis was performed to identify Saurida in this study, such as S. tumbil (Jizan, Saudi Arabia) and S. micropectoralis (Banyuwangi, Indonesia). S. tumbil did not have dark brown spots on the lateral line and upper caudal fin, whereas S. …

Gonadal Absence Of Pig-1: Exploration Of Pig-1 In The Gonad Of Caenorhabditis Elegans, Winston S. Bennah

Undergraduate Theses

Caenorhabditis elegans are model organisms frequently studied to better understand biological processes. They have short life spans and produce a large number of progeny. Additionally, many of their molecular development processes can be found in human, providing insight into cell death and cell fate. In this project, our research aims to create a triple mutant strain to test the importance of the pig-1 gene in the gonad of C. elegans. This strain carries the following alleles: ckb-3::degron; him-8; gfp::pig-1. The pig-1 gene has been previously studied in neuroblast cells in C. elegans and is required for …

The Effects Of Ewing Sarcoma Through The Overexpression And Knockdown Of Transcription Factors Sox18 And Stat1, Victoria Castillo, Melany Cervantes, Nicole Robles, Terry Jo Shackleford

Cell and Molecular Methods

SOX18, a transcription factor with a DNA-binding HMG domain, plays a critical role in regulatory processes linked to cancer progression. Exhibiting oncogenic properties, SOX18 has been linked to various cancers, where it promotes tumor growth by enhancing cell invasion, uncontrolled proliferation, and resistance to apoptosis through dysregulated signaling pathways. STAT1, a protein crucial for immune system regulation, is prominently expressed in immune-associated tissues like the lymph nodes, and bone marrow, suggesting it could play a role in tumor growth. Ewing Sarcoma (EWS), an aggressive cancer that targets bone and soft tissue, carries a high mortality rate of 90% without treatment …

Unilateral Tongue Atrophy In Smad3: A Case Report, Gloria Galloway

Nursing & Health Sciences Research Journal

Background: Mothers Against Decapentaplegic Homolog 3 (SMAD3) is a disorder of the protein encoded at locus 15q22.33 and involved in the transcription of growth factor-beta (TGF) signalling. In this disorder, SMAD3 encoding is impaired, resulting in a connective tissue disorder with multisystem involvement (Bertoli-Avella et al., 2015; Dulac et al., 2019). This case is the first to describe unilateral tongue atrophy as an initial presentation of SMAD3, thereby providing an important contribution to the literature. Clinical History and Exam: A 43-year-old patient described a 1–2-week history in which he noted that half of his tongue had wasted away, and he …