Digital Commons Network^™

Long-Term Effect Of Ammonia- And Water-Based Silver Fluoride On Dentin Collagen Matrix, Merve Uctasli, Roda Seseogullari-Dirihan, Thiago Henrique Scarabello Stape, Mustafa Murat Mutluay, Arzu Tezvergil-Mutluay

School of Dentistry Faculty Research and Publications

Objective

To evaluate the long-term effect of ammonia- and water-based silver fluoride treatments on the degradation of the dentin collagen matrix.

Methods

Dentin beams (0.3x3x7mm) were demineralized (10 % H₃PO₄), rinsed and randomly distributed into six groups. Groups (n = 10 beams/group) were treated with (1) ammonia-based silver fluoride = SDF; (2) SDF + potassium iodide = KI (3) water-based silver fluoride = SF (4) SF + KI (5) KI (6) untreated demineralized dentin beams served as control. Following treatments, dry mass, modulus of elasticity and enzymatic activity were assessed. Dentin beams were incubated in calcium- …

Investigating Social Justice Implications Of Glyphosate Residues In Human Urine, Ananya Malhotra

Electronic Theses, Projects, and Dissertations

Background: Glyphosate, the nominal active ingredient in professional-grade Roundup weed and grass killer, is the most extensively used herbicide globally and in the United States (U.S. Environmental Protection Agency, 2020). An increasing level of concern has surfaced regarding its health consequences, particularly because of contamination of our food supplies. Recent research indicates distressing levels of detection of glyphosate in human blood and urine samples, revealing many instances of frequent human exposure (Conrad et al., 2017; Zhang et al., 2020).Most of the research about exposure is focused on agricultural workers or individuals living in close vicinity to agricultural lands.  Few …

Structural Basis Of Anthocyanin-Mediated Modulation Of Il-2, Il-17, And Tnf-Α: A Docking And Molecular Dynamics Study, Andrey Bogoyavlenskiy, Adolat Manakbayeva, Timur Kerimov, Igor Yershov, Madina Alexyuk, Pavel Alexyuk, Vladimir Berezin, Vyacheslav Dushenkov

Publications and Research

Anthocyanins are naturally occurring flavonoid pigments widely distributed in plants and are recognized for their antioxidant and anti-inflammatory activities. However, the molecular mechanisms underlying their potential immunomodulatory effects remain poorly characterized, particularly regarding their direct interactions with key signaling cytokines. In this study, a set of selected anthocyanins was investigated using a hierarchical computational workflow targeting three major pro-inflammatory cytokines: interleukin-2 (IL-2), interleukin-17 (IL-17), and tumor necrosis factor-α (TNF-α). Molecular docking analyses identified primulin and antirrhinin as the most favorable binders, forming stabilizing hydrogen bonds and hydrophobic interactions within predicted cytokine interaction interfaces. To further assess the stability of these …

Understanding The Experiences Of Black Women Becoming Single Mothers By Choice Using Assisted Reproductive Technology, Jessica Chantal Prepetit

Theses & Dissertations

The term Single Mothers by Choice (SMBC) refers to women who choose to have a child without a partner. According to the American Society for Reproductive Medicine (ASRM), ovarian reserve decreases with a woman’s age. Women are born with approximately 1 million eggs; this number decreases over time. When a woman reaches 35 years of age, which is considered advanced maternal age, their egg count and quality decline. These factors of low ovarian reserve can place a woman in a category of infertility. Also, a woman may unknowingly suffer from uterine abnormalities that may hinder a successful pregnancy. As women …

Disseminated Tuberculosis Presenting With A Nodo-Colonic Fistula In A Newly Diagnosed Hiv-Positive Patient: A Case Report From Tanzania, Samina Somji, Salim Surani, Joshua Ngimbwa, Tevin Kahwa, Frank Swai, Fatema Tayabali, Bishoy Rofaeil

Population Health, East Africa

We present the case of a 35-year-old male with no known comorbidities who presented with chronic gastrointestinal (GI) and constitutional symptoms and was empirically treated with several antibiotics during multiple clinic visits at different health facilities. The laboratory test sent included a stool GeneXpert, which was positive for Mycobacterium tuberculosis (MTB). CT imaging revealed multiple necrotic abdominal and retroperitoneal lymph nodes, hypoenhancing splenic lesions, a nodo-colonic fistula between the necrotic retroperitoneal lymph nodes and the adjacent colon, and a mild left-sided pleural effusion. Colonoscopy demonstrated caseating discharge from the fistulous tract 40 cm from the anal verge, and histology showed …

Restoration Of Dental Implants With Screw-Retained Crowns: Optimizing Contact Area Geometry To Prevent Food Impaction, John S. Mamoun D.M.D.

The New York State Dental Journal

A single-unit, screw-retained fixed partial denture or crown, made for a dental implant, may show food impaction between the screw-retained crown and an inter-proximal tooth surface. This restorative error may be due to an open contact or a large interproximal embrasure space volume between the screw-retained prosthesis and an interproximal tooth surface. Food impaction may also occur due to the contact plane of the restoration being parallel with the contact plane of the neighboring tooth instead of a more correct contact plane geometry where both interproximal contact planes converge slightly towards each other to form a “triangular” embrasure space. These …

Dental Offices Subject To New Legal Mandates, Lance Plunkett Jd, Llm

The New York State Dental Journal

Several new workplace laws, applicable to dental practices, have been enacted, as New York continues its aggressive push in the employment law arena.

N Y State Dent J April 2026

The New York State Dental Journal

In the April 2026 issue, the reader will find the following feature articles:

• Resolution of Severe Lateral Open Bite with Surgically Enhanced Orthodontic and Myofunctional Therapies
• Laser-Assisted New Attachment Procedure: A Review
• Restoration of Dental Implants with Screw-Retained Crowns

This issue includes regular columns with regional news impacting the New York membership including editorial and perspectives columns, legal, association activities, component news, continuing education opportunities, and classifieds.

Patenting The Unexpected, Sean B. Seymore

Vanderbilt Law School Faculty Publications

Unexpected discoveries have transformed human existence. They’ve revolutionized science and spawned entire new fields of research. While unexpected discoveries seem inventive and worthy of patent protection, they don’t formally align with traditional patent theory. The bedrock principle that an invention begins with the conception of an idea in the inventor’s mind and ends with implementation doesn’t apply to unexpected discoveries. This misalignment is most acute for pharmaceuticals, where the discovery of new uses for old drugs has tremendous social and economic importance. Since a drug can inherently treat multiple conditions in a patient—even those unknown to the patient, doctor, or …

Knowledgable Births: Advancing Informed Consent In Maternal Healthcare, Ella A. Forrester

Senior Theses

Background:

Informed consent is both a legal requirement and an ethical cornerstone of healthcare, ensuring that patients understand and voluntarily agree to medical treatments. However, evidence suggests that the informed consent process is often inadequately implemented in maternal healthcare settings, particularly during childbirth. While giving birth, women retain full decision-making capacity but are not consistently provided with sufficient information or support to exercise this right. Contributing factors include ineffective patient–provider communication, limited health literacy, and insufficient access to culturally responsive educational resources.

Methods:

This study aimed to address gaps in accessible prenatal education by developing an online resource platform, Know …

Main Concept Analysis As A Predictor Of Aphasia Severity: Semantic, Phonological, And Executive Influences On Main Concept Performance, Chathurvedi Ganguru

Senior Theses

Main Concept Analysis is a discourse-based measure that captures the essential information conveyed during narrative speech and may serve as a functional indicator of communication ability in aphasia. This study will examine whether Main Concept composite scores derived from the Cinderella narrative task are associated with aphasia severity and identify the linguistic and cognitive factors that influence Main Concept performance. Participants will be drawn from the baseline cohort of the POLAR study and will include approximately 100 individuals with chronic post-stroke aphasia. Baseline measures include Western Aphasia Battery Aphasia Quotient, Pyramids and Palm Trees Test, Philadelphia Repetition Test, and Wechsler …

A Patient-Centric Chatbot For Improving Clinical Trial Accessibility, Yumeng Yang

Dissertations and Theses (Open Access)

Clinical trial enrollment remains a major challenge, and low accrual continues to delay study completion, increase research costs, and slow the development of new therapies. A barrier is the scale of the trial-matching problem: patients and clinicians must search through a large and growing number of studies, while each trial contains complex eligibility criteria that may overlap only partially with other trials. Although public registries such as ClinicalTrials.gov make trial information available, they do not adequately help patients identify which studies are most relevant to their clinical profile. This dissertation addresses that information problem by developing and evaluating a patient-centric …

A Computational Framework For Quantifying Dysregulation And Mapping Pathways Using Transcriptomic And Molecular Data And Its Application In O-Glcnacylation, Rastko Stojsin

Dissertations and Theses (Open Access)

Post-translational modifications (PTMs) are chemical modifications that occur on proteins after synthesis and play an essential role in regulating protein function. Dysregulation of biologically critical PTMs has been widely implicated in many disease phenotypes primarily through effects on complex downstream protein networks. Measurement of PTMs—particularly abundant and rapidly cycling modifications—is often limited to technically challenging and low-throughput biochemical assays. As a result, large-scale clinical datasets rarely contain direct measurements of PTM activity. These limitations restrict current research to expensive, small-scale, hypothesis-driven laboratory studies often focused on an individual disease and pathway. This dissertation presents a data-driven biomedical informatics framework for …

Informed Consent In Childbirth: A Global Scoping Review Of Episiotomy Practices And The Gaps In U.S. Perinatal Care, Rachel Gulczinski

Senior Theses

Informed consent is a fundamental ethical and legal component of preoperative and perinatal care and forms the foundation of trust between patients and healthcare providers. Despite this, current evidence suggests that many childbirth interventions, including episiotomies, are often performed without explicit patient consent. Episiotomy remains one of the most commonly cited interventions associated with non-consented care and obstetric violence. Therefore, this global scoping review aimed to evaluate whether informed consent is obtained for episiotomy procedures during childbirth, understand documented experiences of disrespect and unnecessary procedures, and identify differences between international and U.S. practices. This thesis followed the PRISMA Scoping Review …

Targeting Endothelial Dysfunction In Capillary Malformations: Mechanistic Insights And Adjunct Therapeutic Strategies, Mackenzie Azuero

Theses and Dissertations

Port-wine stains (PWS), clinically classified as capillary malformations (CM), are congenital vascular anomalies characterized by abnormally dilated dermal capillaries that persist throughout life and may progressively darken and thicken with age. Pulsed dye laser (PDL) therapy remains the clinical standard of care for PWS; however, complete lesion clearance is uncommon and many patients experience incomplete or temporary responses. Increasing evidence suggests that endothelial survival and vascular remodeling following laser exposure may contribute to lesion persistence and recurrence, highlighting the need for adjunct therapeutic strategies that target the underlying cellular mechanisms of vascular recovery. This thesis investigates endothelial dysfunction and therapeutic …

Efficient In Vivo Pharmacological Inhibition Of Δfosb, An Ap-1 Transcription Factor, In The Brain, Brandon W Hughes, Corey St Romain, Yi Li, Ashwani Kumar, Qichao Bao, Molly Estill, Shanghua Fan, Nadeen Takatka, Earnest P Chen, Matthew Rivera, Haiying Chen, Alfred J Robison, Mischa Machius, Stephen J Haggarty, Jeannie Chin, Eric J Nestler, Jia Zhou, Gabby Rudenko

Faculty, Staff and Students Publications

ΔFOSB, an unusually stable member of the AP-1 family of transcription factors, mediates long-term maladaptations that play a key role in the pathogenesis of drug addiction, cognitive decline, dyskinesia, and several other chronic neurological and psychiatric conditions. We have recently identified that 2-phenoxybenzenesulfonic acid-containing compounds disrupt the binding of ΔFOSB to DNA in vitro in cell-based assays, and one such compound, JPC0661, disrupts ΔFOSB binding to genomic DNA in vivo in the mouse brain with partial efficiency. JPC0661 binds to a groove outside of the DNA-binding cleft of the ΔFOSB/JUND bZIP heterodimer in a cocrystal structure. Here, we generated a …

Natural Language Generation In Healthcare: A Review Of Methods And Applications, Cheng Peng, Sankalp Talankar, Yonghui Wu

Faculty, Staff and Student Publications

Objective: This study presents a systematic review of natural language generation (NLG) methods and applications in the medical domain, providing quantitative and qualitative analyses to answer four key research questions regarding methods, evaluation, applications, and challenges of NLG in healthcare.

Methods: We searched PubMed, ACM Digital Library, Web of Science, Science Direct, Scopus, Embase, and ACL Anthology for NLG-related studies in healthcare from 2018 to 2024. Out of 3,988 research articles, 113 met the inclusion criteria and were analyzed across data modality, model architecture, evaluation metrics, and application domain.

Results and conclusion: NLG in healthcare has grown substantially, with annual …

"On The Same Rope": An Exploratory Study Of Staff Experiences At The Mountain Seed Foundation's Healing Base Camp Program, Jill C. Kivikoski

Counseling & Human Services Theses & Dissertations

Since the escalation of Russia’s invasion of Ukraine in 2022, Ukrainians have faced significant social and public health challenges, particularly among Service Members, Veterans, and their Families (SMVF), including disability, traumatic stress, and barriers to mental health care (Kostenko et al., 2024; Krasnodemska et al., 2023; O’Grady & Galouchka, 2023). Retreat based programs grounded in shared military identity may offer an accessible form of support (Barrett & Currin, 2024). Mountain Seed Foundation’s (MSF) Healing Base Camp (HBC) was developed to promote healing and resilience among Ukrainian SMVF (Mountain Seed Foundation, n.d.).

This qualitative dissertation used a single-case study design (Yin, …

The Effects Of Covid 19 Job Demands On Public Sector Employees’ Organizational Commitment: The Mediating Roles Of Work Engagement And Job Burnout, And The Moderating Role Of Supervisor Support, Benjamin R. Kaufman

Psychology Theses & Dissertations

United States citizens rely on state government employees to provide essential public services. During the COVID-19 pandemic, these employees responded by administering both routine and novel procedures to protect public health, often placing them on the frontlines and at increased risk of contagion. Concurrently, the pandemic-driven economic downturn created budget shortfalls that threatened the job and financial security of the state workforce. Together, these conditions substantially increased job demands for state government employees.

Guided by the Job Demands–Resources (JDR) Model, this study examined how COVID‑19-related job demands influenced state employees’ work engagement, job burnout, and organizational commitment, and whether supervisor …

Narratives Of Dis-Ease: A Genre Study Of Pathography, Sylvelyn Jo A. Almanzor

Akda: The Asian Journal of Literature, Culture, Performance

This essay establishes pathography as a distinct genre of creative nonfiction, tracing the development, form, and cultural significance of this body of literature. I have broadly defined it as narratives on personal experiences of Gabriel Marcel's "dis-ease"—covering and critiquing the human understanding and experience of sickness, pain, and grief—which has evolved from autobiographical narratives and life-writing of patients and medical professionals to a recognized form of creative nonfiction. This study will analyze the genre's structure, themes, and rhetorical strategies with consideration to cultural significance and how it negotiates the human understanding of suffering, healing, and societal attitudes toward existence and …

Tfeb Degradation Is Regulated By An Ikk/Β-Trcp2 Phosphorylation-Ubiquitination Cascade, Yan Xiong, Jaiprakash Sharma, Meggie N Young, Wen Xiong, Ali Jazayeri, Karl F Poncha, Ma Xenia G Ilagan, Qing Wang, Bei Gao, Hui Zheng, Nicolas L Young, Marco Sardiello

Center on Aging Staff Publications

Transcription factor EB (TFEB) is a master regulator of lysosomal biogenesis and cellular clearance pathways. TFEB activity is tightly controlled by multiple post-translational mechanisms, but the exact molecular mechanism controlling its stability has remained elusive. Here, we identify the IκB kinase (IKK) complex as a key regulator of TFEB protein stability through a phosphorylation-ubiquitination cascade. A high-content kinase inhibitor screen reveals that IKK inhibition increases TFEB protein levels, and genetic ablation of IKK components increases TFEB stability, upregulates lysosomal genes, and enhances lysosomal biogenesis and degradative capacity. Mechanistically, we show that IKK phosphorylates TFEB on a cluster of serine residues …

Phenome-Wide Analysis Of Copy Number Variants In 470,727 Uk Biobank Genomes, Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S Burren, Xiaoyin Li, Karyn Megy, Eleanor Wheeler, Qiang Wu, Santosh S Atanur, Marcin Karpinski, Douglas Loesch, Zammy Fairhurst-Hunter, Sri V V Deevi, Erin Oerton, Sean Wen, Xiao Jiang, Cecilia Salvoro, Jonathan Mitchell, Abhishek Nag, Ben Hollis, Amanda O'Neill, Jen Harrow, Stewart Macarthur, Sebastian Wasilewski, Sean O'Dell, Lifeng Tian, Katherine R Smith, Guillermo Del Angel, Margarete Fabre, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, Keren Carss

Duncan NRI Faculty and Staff Publications

Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association study (PheWAS) with 2,941 plasma protein abundance measurements, 13,336 binary clinical phenotypes and 1,911 quantitative traits. Proteomic analyses validated functional associations of CNVs with nearby genes (cis-protein quantitative trait loci; cis-pQTLs)—with deletions and duplications typically associated with reduced and increased protein levels, respectively—and uncovered previously unknown protein–protein interactions …

Mda5-Mavs And Interferon-Lambda Signaling In The Intestinal Epithelium Limit Murine Astrovirus Infection, Heyde Makimaa, Harshad Ingle, Leran Wang, Somya Aggarwal, Hongju Deng, Elizabeth A Kennedy, Lynne Foster, Yuhao Li, Megan T Baldridge

2020-Current year OA Pubs

Human astroviruses (HAstVs) are a global cause of pediatric gastroenteritis and can cause disseminated infection in immunocompromised hosts. Murine astrovirus (muAstV) causes acute asymptomatic infections in immunocompetent mice and chronic infection in immunodeficient models and has provided important insights into AstV pathogenesis in vivo. MuAstV can protect immunodeficient mice from other enteric viruses via robust induction of antiviral cytokine interferon-lambda (IFN-λ), with recent findings implicating goblet cells and enterocytes as both cell types infected by muAstV as well as potential sources of IFN-λ in vivo. However, the viral sensing pathways that regulate induction of IFN-λ, as well as the specific …

Predictors Of Total Hip Arthroplasty Among Patients With Chronic Comorbidities: A Multivariate Analysis Of A Medically Underserved Region, Blake C. Martin, Manoj Peiris

School of Medicine Publications

Background

THA is a common orthopedic procedure that is expected to increase in the coming years. Obesity and osteoarthritis are major factors that increase the risk of individuals requiring THA. The Rio Grande Valley (RGV) is a distinctive health professional shortage area with high rates of obesity, arthritis, and diabetes. This study aims to examine the relationship between chronic medical conditions and the need for THA in this at-risk, medically underserved population.

Methods

This investigation employed a retrospective chart review encompassing patient records from January 1, 2018, through January 1, 2025, using the University of Texas Rio Grande Valley electronic …

Distinct Effects Of Complement C4a And C4b Copy Numbers In Systemic Sclerosis Serological And Clinical Subtypes, Javier Martínez-López, Carlos Rangel-Peláez, Inmaculada Rodriguez-Martin, Alfredo Guillen-Del-Castillo, Carmen P Simeón-Aznar, José L Callejas, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K De Vries-Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E Alarcon-Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta-Herrera, Martin Kerick

Faculty, Staff and Student Publications

Objective: Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. The variable copy number (CN) of C4 genes and retroviral human endogenous retrovirus K (HERV-K) element influence its function. Given the relationship of C4 CN with systemic sclerosis (SSc) risk, we assessed associations with SSc clinical and serologic subtypes.

Methods: We compared imputed C4 CNs across SSc subgroups (4,049 anticentromere positive [ACA+]; 2,200 anti-topoisomerase I [ATA+]; 577 anti-RNA polymerase [ARA+]; 1,078 triple-negative [TN] patients; 6,295 limited cutaneous SSc [lcSSc]; and 2,946 diffuse cutaneous …

Preoperative First-Line Amlodipine In Phaeochromocytoma/Paraganglioma: Perioperative Haemodynamic Instability And Its Predictors, Chandramouli L, Saba Samad Memon, Anurag Ranjan Lila, Manjiri Karlekar, Aditya Phadte, Vijaya Sarathi, Rohit Barnabas, Sailaja Pramod Bijani, Sameer Rege, Yogesh Prabhakar Takalkar, Amala Kudalkar, Aarti Kulkarni, Nalini Shah, Tushar R Bandgar

Faculty, Staff and Student Publications

Objectives: Preoperative alpha blockade is recommended for phaeochromocytomas and paragangliomas (PPGLs), whereas evidence for calcium channel blockers remains limited. This study evaluated perioperative haemodynamic outcomes with first-line amlodipine for preoperative blockade and identified predictors of intraoperative haemodynamic instability (iHDI).

Methods/design: In this monocentric retrospective study, 35 operated PPGL patients who received preoperative first-line amlodipine (July 2021-March 2024) were analysed. Continuous intraoperative arterial pressure recordings were analysed for episodes and duration of hypertension, hypotension, and iHDI. Biochemical phenotype and tumour characteristics were assessed as predictors.

Results: The cohort (median age: 32 years; 60% female) included 32 phaeochromocytomas and 3 sympathetic paragangliomas. …

Factors Associated With Venous Complications In Lower Extremity Free Flap Reconstruction: A Multivariate Analysis, Bora Kahramangil, Ellen Wang, Imran Rizvi, Jessica R Nye, Kylie Swiekatowski, Alexandra Dunker, Kate Liao, Michael H Haydon, Jeffrey G Trost, Mohin A Bhadkamkar

Faculty, Staff and Student Publications

Background: Due to their dependent location, lower extremity (LE) free flaps (FFs) are at increased risk for venous complications. This study analyzes risk factors of venous complications in LE FFs.

Methods: A single-center retrospective review was conducted of adult patients undergoing LE FF reconstruction from 2016 to 2025. Variables included demographics, wound and operative characteristics, and the number of venous anastomoses. The primary outcome was venous complications, defined as a composite variable encompassing venous congestion, flap loss due to venous causes, and flap hematoma.

Results: The cohort consisted of 370 patients undergoing LE FF reconstructions. Single venous anastomosis was used …

Cardiac Radiotherapy-Induced Epigenetic Memory Underlies Electrophysiologic And Metabolic Reprogramming, Samuel D. Jordan, Shuhua Fu, Abigail Fulkerson, Donghua Hu, Sherwin Ng, David M. Zhang, Sneha Manikandan, Jeffrey Szymanski, Nan Hu, Yuqian Xie, Anish Bedi, James Tabor, Lauren Boggs-Bailey, Lori Strong, Stephanie Hicks, Lavanya Aryan, Nishanth Gabriel, Geoffrey D. Hugo, Kuo-Chan Weng, Nathaniel Huebsch, Julie K. Schwarz, Bo Zhang, Stacey L. Rentschler

2020-Current year OA Pubs

Stereotactic arrhythmia radiotherapy (STAR) is emerging as a highly effective treatment for ventricular tachycardia (VT). Growing evidence indicates that STAR favorably reprograms the electrical substrate by speeding conduction and/or prolonging repolarization via modulation of ion channel expression, although the mechanisms by which single-fraction radiation mediates durable changes in gene expression are incompletely understood. Here, we identify dynamic changes in the cardiomyocyte epigenome and transcriptome after irradiation (IR) in vivo and in vitro, including durably increased expression and chromatin accessibility of Scn5a (encodes the α subunit of the sodium channel, NaV1.5), demonstrating a role for epigenetic memory in conduction velocity (CV) …

Novel Variants Identified In Families With Snx27 -Related Neurodevelopmental Disorder, Aiding In Characterizing Its Genotypic And Phenotypic Spectrum, Mulazim Hussain, Yumei Li, Hafiz Muhammad Jafar Hussain, Kiran Afshan, Suzanne M Leal, Rui Chen, Asif Mir, Isabelle Schrauwen, Sabika Firasat

Faculty, Staff and Students Publications

Background:

Sorting Nexin 27 (SNX27), a key regulator of synaptic receptor trafficking and endosomal recycling, has been implicated in maintaining synaptic homeostasis and cognitive function. To date, variants in SNX27 have been reported in a small number of patients across three publications with severe neurodevelopmental phenotypes. However, the genetic and functional landscape of SNX27-related disorders remains poorly understood, and further evidence is needed to confirm its association with disease and to better delineate the associated phenotype.

Methods and Results:

Two unrelated Pakistani families with a total of five affected individuals segregating a neurodevelopmental disorder were investigated via exome …

Comprehensive Profiling Of The Human Tear Fluid Mirnome Using Small Rna Sequencing, Eliza Williams, Jeremy Altman, Tae Jin Lee, Amy Estes, Cintia S De Paiva, Pamela Martin, Shruti Sharma, Ashok Sharma

Faculty, Staff and Students Publications

Purpose: To generate a comprehensive profile of microRNAs (miRNAs) present in human tear fluid using next-generation sequencing (NGS), establish a reference miRNome for healthy human tear fluid, and investigate whether miRNA expression varies by sex, race, or age.

Methods: Tear samples were collected from 32 adults using Schirmer strips. RNA was isolated using the miRNeasy Serum/Plasma Kit, and cDNA libraries were prepared using the QIAseq miRNA Library Kit. Barcoded libraries were sequenced on the NovaSeq 6000 platform. Bioinformatic analyses included adapter trimming, alignment to miRBase, normalization with DESeq2, and functional annotation using multiMiR and clusterProfiler. Differential expression analysis was performed …