Digital Commons Network^™

Exploring Shape Dependency Of Catalysts For Chemical Reactions, Kaveh Shariati

Theses and Dissertations

Recent advancements in the synthesis of nanoparticles, particularly one-dimensional (1D) nanoparticles, have significantly enhanced the catalytic activity of various processes by enabling precise control over their morphologies and exposing unique crystallographic facets. The shape of nanoparticles is closely linked to their chemical, physical, electrical, optical, magnetic, and catalytic properties. This dissertation investigates the impact of 1D nanoparticle catalysts on two distinct and well-known chemical reactions. In the first part of the study, we explore the catalytic activity and selectivity of silver catalysts in the ethylene epoxidation reaction, which are intrinsically linked to their faceting. Silver nanowire catalysts representing Ag(100) and …

Evaluation Of Mechanism Of Action And Toxicity Of Novel Psychoactive Substances (Nps) Identified As Cannabinomimetics, Robert Michael Sears

Theses and Dissertations

Synthetic cannabinoid receptor agonists (SCRA), also referred to as synthetic cannabinoids (SCs), pose a significant public health risk, create an undue burden on local emergency departments, and present significant challenges for law enforcement officers and forensic laboratories. SCs are a diverse group of compounds sold with the intent to illicit psychoactive responses like tetrahydrocannabinol (THC), the primary psychoactive component in marijuana. Since their initial detection in 2004, illicit use of SCs has grown in popularity. Recognizing the dangers of SC use, the Drug Enforcement Agency has moved to schedule the analytes routinely identified in street drugs. Despite these efforts, the …

Machine Learning Approaches To The Exploration Of Ammonia Synthesis Catalysts Utilizing Experimental Data, Rasika Jayarathna

Theses and Dissertations

Traditional heterogeneous catalyst discovery process relies upon human expert-guided experiments based on domain knowledge and human intuition supported by catalyst characterization. However, this process is time and resource-consuming and suffers from human bias. Machine learning (ML) models trained on experimental data have the potential to significantly accelerate this discovery process by guiding experiments to optimize the catalyst performance and increase the understanding of the catalysts. Ammonia synthesis catalysts are a class of catalysts widely investigated in the literature, which has generated decades of experimental data. Moreover, ammonia has been gaining attention since it can be used as a carbon-free next-generation …

Using Youth Participatory Action Research To Scale Up Pre-Exposure Prophylaxis (Prep) In The Southern United States, Mariajose Jhamira Paton

Theses and Dissertations

The recently launched initiative, Ending the HIV Epidemic (EHE), provides a targeted plan to end HIV in the United States (US) by 2030, and prioritizes key demographic groups and geographic areas that are disproportionately burdened by HIV. Sexual and gender minority (SGM) youth, especially Black and Latiné youth (SGMBLY), are a key population for EHE as they have experienced the largest increase in new HIV rates in recent decades. States identified by EHE are disproportionately located in the Southern US, where increasing the uptake of pre-exposure prophylaxis (PrEP) for HIV has been a challenge. Though proven effective, youth participatory action …

Surface Acoustic Waves-Based Point-Of-Care Biosensor, Debdyuti Mandal

Theses and Dissertations

A biosensor is an analytical tool consisting of biologically active material used in close conjunction with a device that converts a biochemical signal into a quantifiable electrical signal. The early detection of the disease biomarkers can enhance the increased curability of the disease, reduce healthcare costs, and finally, improve the quality of life for patients. Thus, for the following purpose, there is always a need for an effective biosensor as a diagnostic device. The biosensor typically consists of an actuator, a bio-recognition component, and a transducer that converts captured signals into a meaningful display. The bio-recognition component uses biomolecules to …

Quantifying Extreme Events: Applications Of Probabilistic Methods To Quantify Riverine And Coastal Flood Dynamics In South Carolina And Neighboring Coastal Communities, Ryne Phillips

Theses and Dissertations

Extreme flood events have been persistent throughout history and have challenged human populations around the globe. Over time, scientists and engineers have developed tools and technology to support flood risk management. Most, if not all, of these tools rely on some form of the field of stochastic hydrology. Stochastic hydrology is a broad discipline, but the overarching principle is to use statistical and data-driven techniques to develop an understanding of one or more hydrologic variables (e.g., flood flow or peak storm tide). However, the need for large sample sizes of data that offer insight into all possible combinations of outcomes …

Enabling Novel Nanopore Sensing Approaches For Personalized Medicine Through Chemical Modifications To Analytes, Zehui Zhang

Theses and Dissertations

Nanopore sensors have garnered significant attention recently, not only for their groundbreaking advancements in single-molecule DNA sequencing but also for their diverse applications in stochastic sensing, single-molecule chemistry, and protein unfolding. The interaction of single molecules with the nanopore sensing interface leads to characteristic ionic current modulations, reflecting the composition, charge, distribution, structure, and sequence of the translocating molecule. With the electrical resistive pulse nanopore sensing, its single-molecule sensitivity and specificity have opened doors to numerous potential applications in personalized medicine. I will discuss recent advancements in the sensitivity and specificity of personalized medicine using nanopore sensors, focusing on proteomic …

Social-Ecological Determinants Of Affective States Among College Students: A Cross-Cultural Ecological Momentary Assessment Study, Abhishek Aggarwal

Theses and Dissertations

Background: College students experience a complex and diverse array of stressors during their college life, making them vulnerable to severe mental health issues. Momentary affective states are linked to major mental health disorders and overall well-being; however, the current social-ecological model of affect lacks a temporal dimension, failing to account for within-person dynamics of affective states over time. This study disentangles the complex temporal dynamics among the momentary, multilevel social-ecological factors and affective states in the real-world setting of college students across the United States (US) and India. However, establishing invariance of the affect model across time, people, and cultures …

An Expanded Chronic Care Management Approach To Multiple Chronic Conditions In Hispanics Using Community Health Workers As Community Extenders In The Rio Grande Valley Of Texas, Juliana Z. Lopez, Minjae Lee, Soo K. Park, Maria E. Zolezzi, Lisa A. Mitchell-Bennett, Paul Gerardo Yeh, Lubeth Perez, Natalia I. Heredia, David D. Mcpherson, Joseph B. Mccormick, Belinda M. Reininger

Health & Biomedical Sciences Faculty Publications

Introduction

The synergistic negative effects of type 2 diabetes (T2DM) and hypertension increases all-cause mortality and the medical complexity of management, which disproportionately impact Hispanics who face barriers to healthcare access. The Salud y Vida intervention was delivered to Hispanic adults living along the Texas-Mexico Border with comorbid poorly controlled T2DM and hypertension. The Salud y Vida multicomponent intervention incorporated community health workers (CHWs) into an expanded chronic care management model to deliver home-based follow-up visits and provided community-based diabetes self-management education.

Methods

We conducted multivariable longitudinal analysis to examine the longitudinal intervention effect on reducing systolic and diastolic blood …

Characteristics And Treatment Of Acute Myeloid Neoplasms With Cutaneous Involvement In Infants Up To 6 Months Of Age: A Retrospective Study., Juliette Renaud, Bianca F. Goemans, Franco Locatelli, Martina Pigazzi, Shelagh Redmond, Claudia E. Kuehni, Alice Destaillats, Todd A. Alonzo, Robert B. Gerbing, Alan S. Gamis, Richard Aplenc, Raffaele Renella, Todd Cooper, Francesco Ceppi

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Myeloid neoplasms account for 50% of cases of pediatric leukemias in infants. Approximately 25%-50% of patients with newborn leukemia have cutaneous extramedullary disease (EMD). In less than 10% of patients, aleukemic leukemia cutis or isolated extramedullary disease with cutaneous involvement (cEMD) occurs when skin lesions appear prior to bone marrow involvement and systemic symptoms. Interestingly, in acute myeloid leukemia with cutaneous EMD (AML-cEMD) and cEMD, spontaneous remissions have been reported.

METHOD: This is a multicentric retrospective cohort study aiming to describe characteristics, treatment, and outcome of infants with either cEMD or presence of cutaneous disease with involvement of the …

Use Of Clearguard Hd Caps In Pediatric Hemodialysis Patients., Amy E. Nau, Troy Richardson, Diana Cardwell, Jennifer Ehrlich, Jyothsna Gattineni, Melisha Hanna, Mahima Keswani, Emily Neibauer, Kelly Nitz, Raymond Quigley, Michelle Rheault, Rebekah Sims, Mayna Woo, Bradley A. Warady

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Bloodstream infections (BSIs) are a leading cause of hospitalizations and mortality among patients receiving hemodialysis (HD) therapy, especially those with a central venous catheter (CVC) for dialysis access. The use of chlorhexidine impregnated catheter caps (ClearGuard) has been associated with a decrease in the rate of HD catheter-related BSIs (CA-BSIs) in adults; similar data have not been published for children.

METHODS: We compared CA-BSI data from participating centers within the Standardizing Care to Improve Outcomes in Pediatric Endstage Kidney Disease (SCOPE) collaborative based on the center's use of ClearGuard caps for patients with HD catheter access. Centers were characterized …

Efficacy And Safety Of Odevixibat In Patients With Alagille Syndrome (Assert): A Phase 3, Double-Blind, Randomised, Placebo-Controlled Trial., Nadia Ovchinsky, Madeleine Aumar, Alastair Baker, Ulrich Baumann, Philip Bufler, Mara Cananzi, Piotr Czubkowski, Özlem Durmaz, Ryan T. Fischer, Giuseppe Indolfi, Wikrom W. Karnsakul, Florence Lacaille, Way S. Lee, Giuseppe Maggiore, Philip Rosenthal, Mathias Ruiz, Etienne Sokal, Ekkehard Sturm, Wendy Van Der Woerd, Henkjan J. Verkade, Andrew Wehrman, Christine Clemson, Qifeng Yu, Quanhong Ni, Jessica Ruvido, Susan Manganaro, Jan P. Mattsson

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: In patients with Alagille syndrome, cholestasis-associated clinical features can include high serum bile acids and severe pruritus that can necessitate liver transplantation. We aimed to evaluate the efficacy and safety of the ileal bile acid transporter inhibitor odevixibat versus placebo in patients with Alagille syndrome.

METHODS: The ASSERT study was a phase 3, double-blind, randomised, placebo-controlled trial that enrolled patients at 21 medical centres or hospitals in ten countries (Belgium, France, Germany, Italy, Malaysia, the Netherlands, Poland, Türkiye, the UK, and the USA). Eligible patients had a genetically confirmed diagnosis of Alagille syndrome, a history of significant pruritus, and …

Juvenile Polyposis Syndrome In Children: The Impact Of Smad4 And Bmpr1a Mutations On Clinical Phenotype And Polyp Burden., Shlomi Cohen, Anat Yerushalmy-Feler, Isabel Rojas, Claudia Phen, David A. Rudnick, Colleen B. Flahive, Steven H. Erdman, Ramit Magen-Rimon, Ivana Copova, Thomas M. Attard, Andrew Latchford, Warren Hyer

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: A constitutional disease-causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%-60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV-positive JPS compared to DCV-negative JPS.

METHODS: Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group.

RESULTS: A total of 124 children with JPS were included: 69 (56%) DCV-negative and 55 (44%) DCV-positive (53% SMAD4 and 47% BMPR1A) with a median (interquartile range) follow-up of 4 (2.8-6.4) …

Risk Factors For Postpartum Depression And Severe Distress Among Mothers Of Very Preterm Infants At Nicu Discharge., Julie A. Hofheimer, Elisabeth C. Mcgowan, Lynne M. Smith, Samantha Meltzer-Brody, Brian S. Carter, Lynne M. Dansereau, Steven Pastyrnak, Jennifer B. Helderman, Charles R. Neal, Sheri A. Dellagrotta, Thomas Michael D O'Shea, Barry M. Lester

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE:  To identify psychological, medical, and socioenvironmental risk factors for maternal postpartum depression (PPD) and severe psychological distress (SPD) at intensive care nursery discharge among mothers of very preterm infants.

STUDY DESIGN:  We studied 562 self-identified mothers of 641 infants born(NOVI) conducted in nine university-affiliated intensive care nurseries. Enrollment interviews collected socioenvironmental data, depression, and anxiety diagnoses prior to and during the study pregnancy. Standardized medical record reviews ascertained prenatal substance use, maternal and neonatal medical complications. The Edinburgh Postnatal Depression Scale and Brief Symptom Inventory were administered at nursery discharge to screen for PPD and SPD symptoms, respectively.

RESULTS: …

Including Young Children In Their Food Allergy Care: A Pilot Study., Jodi Shroba, Susan F. Mcelroy

Manuscripts, Articles, Book Chapters and Other Papers

RATIONALE: Food allergy education is often directed toward adult caregivers. However, once children go to school, they must participate in their food allergy care to remain safe. The purpose of this study was to assess food allergy knowledge and test an educational intervention targeted toward the child. We hypothesized that child-based teaching will be equal in safety and knowledge outcomes compared with standard parental education.

METHODS: Twenty-nine children between the ages of 5-11 years and their caregivers were enrolled. Child subjects completed a food allergy knowledge questionnaire. Each caregiver/child dyad was randomized to receive parent-targeted education (control) or child-targeted education …

Psychotropic Medication Usage In Pediatric Ckd: Reporting From The Ckd In Children Cohort., Ryan C. Ward, Amy J. Kogon, Matthew B. Matheson, Anne Dawson, Stephen R. Hooper, Stephen Molitor, Cynthia Wong, Susan L. Furth, Bradley A. Warady, Lyndsay A. Harshman

Manuscripts, Articles, Book Chapters and Other Papers

Background: Mental health disorders within the pediatric CKD population are prevalent. The frequency is unknown with which psychotropic medications that commonly treat these conditions are used in this population.

Methods: Data from the CKD in Children (CKiD) cohort study were used to describe the use of psychotropic medications and patient-related characteristics of use. Medications were classified into three groups: antidepressants, central nervous system (CNS) stimulants, and antipsychotic/mood stabilizing medications. Participant age, sex, CKD severity, and duration of medication use were ascertained. Medication use was evaluated in parallel with CKD disease type, presence of urological comorbidity, and hypertension. Chi-square tests compared …

Dna-Delivered Monoclonal Antibodies Targeting The P53 R175h Mutant Epitope Inhibit Tumor Development In Mice, Shan Zhou, Xingfang Yu, Kanaga Sabapathy, Yong Li

Faculty, Staff and Students Publications

The tumor suppressor p53 is the most common mutated gene in cancer, with the R175H as the most frequent p53 missense mutant. However, there are currently no approved targeted therapies or immunotherapies against mutant p53. Here, we characterized and investigated a monoclonal antibody (mAb) that recognizes the mutant p53-R175H for its affinity, specificity, and activity against tumor cells in vitro. We then delivered DNA plasmids expressing the anti-R175H mAb or a bispecific antibody (BsAb) into mice to evaluate their therapeutic effects. Our results showed that the anti-R175H mAb specifically bound to the p53-R175H antigen with a high affinity and …

Global Prevalence Of Metabolic Dysfunction-Associated Fatty Liver Disease-Related Hepatocellular Carcinoma: A Systematic Review And Meta-Analysis, Anjiya Shaikh, George Cholankeril, Mark Cheah, Jian-Hong Zhong, Gianluca Svegliati-Baroni, Alessandro Vitale, Beom Kyung Kim, Sang Hoon Ahn, Mi Na Kim, Simone I Strasser, Jacob George

Faculty, Staff and Students Publications

BACKGROUND/AIMS: The global proportion of hepatocellular carcinoma (HCC) attributable to metabolic dysfunction-associated fatty liver disease (MAFLD) is unclear. The MAFLD diagnostic criteria allows objective diagnosis in the presence of steatosis plus defined markers of metabolic dysfunction, irrespective of concurrent liver disease. We aimed to determine the total global prevalence of MAFLD in HCC cohorts (total-MAFLD), including the proportion with MAFLD as their sole liver disease (single-MAFLD), and the proportion of those with concurrent liver disease where MAFLD was a contributary factor (mixed-MAFLD).

METHODS: This systematic review and meta-analysis included studies systematically ascertaining MAFLD in HCC cohorts, defined using international expert …

Origins Of Cancer: Ain’T It Just Mature Cells Misbehaving?

Faculty, Staff and Students Publications

A pervasive view is that undifferentiated stem cells are alone responsible for generating all other cells and are the origins of cancer. However, emerging evidence demonstrates fully differentiated cells are plastic, can be coaxed to proliferate, and also play essential roles in tissue maintenance, regeneration, and tumorigenesis. Here, we review the mechanisms governing how differentiated cells become cancer cells. First, we examine the unique characteristics of differentiated cell division, focusing on why differentiated cells are more susceptible than stem cells to accumulating mutations. Next, we investigate why the evolution of multicellularity in animals likely required plastic differentiated cells that maintain …

Learning Curve For Endoscopic Submucosal Dissection (Esd) In The United States: Large, Untutored, Single-Operator Experience, Johanna W El-Haj, Salmaan Jawaid, Mohamed O Othman

Faculty, Staff and Students Publications

Background and study aims Endoscopic submucosal dissection (ESD) allows removal of tumors en-bloc. Western adoption of ESD has been hindered by its steep learning curve. Western data regarding ESD learning curve are limited. We analyzed the learning curve of a single endoscopist at a tertiary referral center in the United States.

Patients and methods All consecutive ESDs performed by a single endoscopist at a tertiary referral center in the United States from 2015 through 2022 were identified. Descriptive statistics and CUSUM analysis were used to describe the learning curve for en-bloc, R0 resection, and resection speed.\

Results In our study, …

Optimization Of Kidney Health In Liver Transplant Candidates: Pretransplant Considerations And Modalities, Chandrashekhar A Kubal

Faculty, Staff and Students Publications

Patients with decompensated end-stage liver disease (ESLD) are at increased risk for mortality, and only liver transplantation (LT) offers meaningful hope for survival. These patients are at risk for kidney dysfunction through the continuum of care for ESLD including LT. We discuss the role of accurate estimation and measurement of baseline glomerular filtration rate in assessment of kidney dysfunction among those with ESLD. Optimizing kidney function is a vital goal in the management of these patients before LT. In this review, we summarize salient aspects of assessing and optimizing kidney function in this patient population. Precipitating factors and different causes …

Controversies In Terlipressin And Transplantation In The United States: How Do We Meld The Two?, Andrew S Allegretti, Lisa B Vanwagner, Giuseppe Cullaro, Josh Levitsky, Pere Ginès, Salvatore Piano, Sumeet K Asrani, Kavish R Patidar, Hrs-Harmony Consortium

Faculty, Staff and Students Publications

Hepatorenal syndrome-acute kidney injury (HRS-AKI) is a severe complication of cirrhosis that carries a poor prognosis. The recent Food and Drug Administration approval of terlipressin has substantial implications for managing HRS-AKI and liver allocation in the United States. Terlipressin has been available in Europe for over a decade, and several countries have adapted policy changes such as Model for End-Stage Liver Disease (MELD) score "lock" for HRS-AKI. In this article, we outline the European experience with terlipressin use and explore the question of whether terlipressin treatment for HRS-AKI should qualify for the MELD score "lock" in the United States in …

Patient Perspectives On Using Telemedicine During In-Center Hemodialysis: A Qualitative Study, Glenn M Chertow, Allison Jaure, Kevin F Erickson

Faculty, Staff and Students Publications

RATIONALE & OBJECTIVE: In the wake of the coronavirus disease 2019 (COVID-19) pandemic, the United States federal government expanded originating telemedicine sites to include outpatient dialysis units. For the first time, nephrology practitioners across the United States could replace face-to-face visits with telemedicine for patients receiving in-center hemodialysis. This study describes patients' perspectives on the use of telemedicine during in-center hemodialysis.

STUDY DESIGN: A qualitative study.

SETTING & PARTICIPANTS: Thirty-two patients from underserved populations (older, less educated, unemployed, persons of color) receiving in-center hemodialysis who used telemedicine with their nephrologist during the COVID-19 pandemic.

ANALYTICAL APPROACH: Telephone semistructured interviews were …

T-Bet Regulates Ion Channels And Transporters And Induces Apoptosis In Intestinal Epithelial Cells, Tianhao Duan, Xin Liu, Linfeng Li, Helen Y Wang, Changsheng Xing, Rong-Fu Wang

Faculty, Staff and Students Publications

T-bet, encoded by TBX21, is extensively expressed across various immune cell types, and orchestrates critical functions in their development, survival, and physiological activities. However, the role of T-bet in non-immune compartments, notably the epithelial cells, remains obscure. Herein, a Tet-O-T-bet transgenic mouse strain is generated for doxycycline-inducible T-bet expression in adult animals. Unexpectedly, ubiquitous T-bet overexpression causes acute diarrhea, intestinal damage, and rapid mortality. Cell-type-specific analyses reveal that T-bet-driven pathology is not attributable to its overexpression in CD4

A Lipidomic Based Metabolic Age Score Captures Cardiometabolic Risk Independent Of Chronological Age, Tingting Wang, Habtamu B. Beyene, Changyu Yi, Michelle Cinel, Natalie A. Mellett, Gavriel Olshansky, Thomas G. Meikle, Jingqin Wu, Aleksandar Dakic, John Blangero

School of Medicine Publications

Background

Metabolic ageing biomarkers may capture the age-related shifts in metabolism, offering a precise representation of an individual’s overall metabolic health.

Methods

Utilising comprehensive lipidomic datasets from two large independent population cohorts in Australia (n = 14,833, including 6630 males, 8203 females), we employed different machine learning models, to predict age, and calculated metabolic age scores (mAge). Furthermore, we defined the difference between mAge and age, termed mAgeΔ, which allow us to identify individuals sharing similar age but differing in their metabolic health status.

Findings

Upon stratification of the population into quintiles by mAgeΔ, we observed that participants in the …

Association Between Bode Index And Visceral Fat Among Copd Patients Attending A Tertiary Care Hospital — A Cross Sectional Study, Tejaswini Swamy, Anitha Or, Kiran N, Shivaprasad Vr, Manoj R

School of Medicine Publications

Background: COPD is considered as the 2nd most common cause of death in India. “Body-Mass Index, Airflow Obstruction, Dyspnea and Exercise Capacity Index” (BODE index) predicts 4-year survival rate, making it a better tool for advanced study. So far, the degree of visceral fat accumulation in COPD patients & its effect on their survival rate has not been directly studied in Indian population.

Aims and Objective: To measure the visceral adiposity, estimate the BODE index in COPD Patients & assess the relation between Visceral adiposity & BODE Index in them.

Material and Method: 78 COPD patients were recruited. The …

Endovascular Management Of A Ruptured Aneurysm On A Posterior Inferior Cerebellar Artery With Extradural C2-Origin: Case Report And Literature Review, Shankar Prakash Gopinath, Goetz Benndorf

Faculty, Staff and Students Publications

Extracranial vascular pathology uncommonly causes intracranial subarachnoid hemorrhage (SAH). Among possible lesions are aneurysms at the craniocervical junction arising from a posterior inferior cerebellar artery (PICA) with an extradural origin. We describe a case of a 55-year-old female presenting with a sudden and severe headache. A computed tomography scan revealed a SAH within the fourth ventricle and cervical spinal canal, and a ruptured saccular aneurysm on a PICA with extradural C2-origin. Despite difficult access anatomy, endovascular treatment was feasible and resulted in subtotal initial occlusion and preservation of distal PICA flow. Upon 3-month follow-up, the aneurysm was completely occluded with …

Inhibition Of Cathepsin S In Autoimmune Cd25ko Mouse Improves Sjögren Disease-Like Lacrimal Gland Pathology, Tiago Santos-Ferreira, Christoph Ullmer, Cintia S De Paiva

Faculty, Staff and Students Publications

PURPOSE: CD25KO mice are a model of Sjögren disease (SjD) driven by autoreactive T cells. Cathepsin S (CTSS) is a protease crucial for major histocompatibility complex class II presentation that primes T cells. We investigated if a diet containing CTSS inhibitor would improve autoimmune signs in CD25KO mice.

METHODS: Four-week female CD25KO mice were randomly chosen to receive chow containing a CTSS inhibitor (R05461111, 262.5 mg/kg chow) or standard chow for 4 weeks. Cornea sensitivity was measured. Inflammatory score was assessed in lacrimal gland (LG) histologic sections. Flow cytometry of LG and ocular draining lymph nodes (dLNs) investigated expression of …

Homozygous Missense Variants In Ykt6 Result In Loss Of Function And Are Associated With Developmental Delay, With Or Without Severe Infantile Liver Disease And Risk For Hepatocellular Carcinoma, Kai-Li Tan, Oguz Kanca, Kevin E Bove, Norma Quintanilla, Sebnem O Sag, Sehime G Temel, Charles A Leduc, Amanda J Mcpartland, Elaine M Pereira, Yufeng Shen, Jacob Hagen, Christie P Thomas, Nhu Thao Nguyen Galván, Xueyang Pan, Shenzhao Lu, Jill A Rosenfeld, Daniel G Calame, Michael F Wangler, James R Lupski, Davut Pehlivan, Paula M Hertel, Wendy K Chung, Hugo J Bellen

Faculty, Staff and Students Publications

PURPOSE: YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases.

METHODS: We report 3 unrelated individuals with rare homozygous missense variants in YKT6 who exhibited neurological disease with or without a progressive infantile liver disease. We modeled the variants in Drosophila. We generated wild-type and variant genomic rescue constructs of the fly ortholog dYkt6 and compared their ability in rescuing the loss-of-function phenotypes in mutant flies. We also generated a dYkt6

RESULTS: Two individuals are homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] and exhibited normal prenatal course followed by failure to thrive, …

Aging Atlas Reveals Cell-Type-Specific Effects Of Pro-Longevity Strategies, Youchen Guan, Yi-Tang Lee, Lang Ding, Lihua Wang, Aaron S Mohammed, Hongjie Li, Yusi Fu, Meng C Wang

Faculty, Staff and Students Publications

Organismal aging involves functional declines in both somatic and reproductive tissues. Multiple strategies have been discovered to extend lifespan across species. However, how age-related molecular changes differ among various tissues and how those lifespan-extending strategies slow tissue aging in distinct manners remain unclear. Here we generated the transcriptomic Cell Atlas of Worm Aging (CAWA, http://mengwanglab.org/atlas ) of wild-type and long-lived strains. We discovered cell-specific, age-related molecular and functional signatures across all somatic and germ cell types. We developed transcriptomic aging clocks for different tissues and quantitatively determined how three different pro-longevity strategies slow tissue aging distinctively. Furthermore, through genome-wide profiling …