Digital Commons Network^™

Investigation Of Mono-Allelic Rack1 Deletion Effects On Cell Growth And Pkc Mrna Expression, Ashen Quiambao

Seton Hall University Dissertations and Theses (ETDs)

The µ-opioid receptor is a primary target of clinically used opioids, and RACK1 regulates its transcription by physically interacting with MOR transcription regulator PCBP1 in the cytosol to prevent its nucleus translocation. Two mono-allelic RACK1 knockout cell lines named RACKA and RACKB were generated by the CRISPR-Cas9 technique using WT NMB neuroblastoma cells. As RACK1 also contains a PKC-binding domain, this study aims to evaluate the impacts of mono-allelic deletion on cell growth rates and PKC isoform expression. Although a slight decreased tendency of growth rate in RACKA and RACKB cells was observed when compared to that of WT NMB …

Low-Dimensional Signatures Of Neuronal Activity Associated With Long-Term Operant Conditioning In Aplysia, Sara Vanaki, Nicholas O Gonzalez, Curtis L Neveu, Yuto Momohara, Behnaam Aazhang, John H Byrne

Faculty, Staff and Student Publications

Operant conditioning is a form of learning in which a behavior is reinforced by reward. Operant conditioning has multiple temporal domains, ranging from short-term, lasting a few minutes, to long-term, persisting for at least 24 h. The extent to which short- and long-term operant conditioning memories rely on shared or separate neural mechanisms is poorly understood. Voltage-sensitive dye (VSD) imaging has been used previously to record the activity of a large number of neurons simultaneously in the buccal ganglion to measure changes in neuronal activity during short-term operant conditioning. We examined neuronal activity using VSD 24 h after operant conditioning …

Enviromental Dna (Edna) Tools For Invasive Mosquitofish (Gambusia Affinis) Surveillance At The Shoshone Pupfish (Cyprinidon Nevadensis Shoshone) Refugium, Yusuf Olamilekan Umar

UNLV Theses, Dissertations, Professional Papers, and Capstones

Spring-fed aquatic ecosystems of the North American Southwest and U.S. Great Basin hosts a plethora of endemic fish species due to the effects of hydrologic fragmentation that resulted from Pleistocene aridification. Threats to endemic fishes worldwide include human intentional or unintentional release of exotic species into their habitats. Early detection of invasive species, while corrective actions are still possible, is critical for management, yet traditional survey methods are often disruptive to sensitive ecosystems, costly, and limited in sensitivity. The recent development of environmental DNA (eDNA) approaches offers powerful alternatives for invasive species monitoring in aquatic systems. In this study, a …

Itpr1 Autoantibody-Associated Autoimmunity As A Cause Of Newly Emerging Cognitive Decline Mimicking Alzheimer's Disease: Case Report And Brief Review Of The Literature, Nicolas Kunath, Hermod Arne Bollandsås Ramfjord, Elisabeth Volden Kvisvik, Marton Konyves-Kolonics, Gøril Rolfseng Grøntvedt, Irina I Serysheva, Lars Komorowski, Brigitte Wildemann, Sven Jarius

Faculty, Staff and Student Publications

Background: Since its first description in 2014, anti-inositol 1,4,5-trisphosphate receptor type 1 (ITPR1, also termed IP3R1) autoimmunity has been recognized as causing a clinically heterogeneous spectrum of symptoms. While first described in patients with autoimmune cerebellar ataxia, this facultative paraneoplastic disease has been associated also with peripheral neuropathy, dysautonomia, sleep disorders, neuropsychiatric/psychotic symptoms, and cognitive decline.

Methods: Retrospective case study.

Results: We report the case of a 58-year-old patient who was admitted with acute confusion, rapidly progressive cognitive decline, and hallucinations. A history of mild cognitive impairment over several years and low cerebrospinal fluid (CSF) amyloid beta-42 and elevated CSF …

Protocol For Isolation Of Lipid Droplets And Mitochondria From Acute Myeloid Leukemia Cells For Lipidomic Analysis, Ran Zhao, Liang Zhang, Shuxin Dong, Kazuharu Kamachi, Saurabh Kumar Gupta, Hiroki Akiyama, Jalen Nguyen, G Lavender Hackman, Michael Andreeff, Alessia Lodi, Jo Ishizawa

Faculty, Staff and Student Publications

Lipid droplets (LDs) are dynamic organelles critical for lipid and energy homeostasis. LD dysregulation is implicated in various diseases, including acute myeloid leukemia (AML), which exhibits aberrant lipid metabolism and chemoresistance. Here, we describe an effective protocol for the co-isolation of LDs and mitochondria from lipid-deficient cell types, e.g., AML cells. We detail procedures for the isolation, quality verification, and results from mass spectrometry-based lipidomic analysis. This protocol enables the functional study of organellar lipidomic regulation in AML.

Elucidating The Role Of Pbaf Chromatin Remodeling Subunit Arid2 In B Cell Development, Rachel Paolini

Arts & Sciences Graduate Student Theses and Dissertations

B cells are key components of the adaptive immune system that mediate humoral immunity through the production of antigen-specific antibodies. The generation of functional B cells involves multiple stages of differentiation across distinct anatomical niches, requiring precise regulation of microenvironmental signals and intrinsic transcriptional networks. SWI/SNF chromatin remodeling complexes have emerged as key regulators of B cell lineage commitment by modulating the accessibility of transcriptional programs required for differentiation and maturation. However, the specific roles of individual SWI/SNF subunits and distinct complexes within early B cell differentiation remain poorly understood. In this thesis, I investigated the function of Arid2, an …

Spinach (Spinacia Oleracea L) Flavonoids Are Hydrolyzed During Digestion And Their Bioaccessibility Is Under Stronger Genetic Control Than Raw Material Content, Michael P Dzakovich, Alvin L Tak, Elaine A Le, Rachel P Dang, Benjamin W Redan, Geoffrey A Dubrow

Children’s Nutrition Research Center Staff Publications

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Method Development And Optimization For The Detection Of Synthetic Cannabinoids In Hair Using Lc-Msms, Linda K. Obeng

Student Theses

Synthetic cannabinoids represent one of the most prevalent and high-risk classes of New Psychoactive Substances (NPS), continuously evolving in structure and potency. Their widespread presence in seized materials and toxicology casework underscores the growing need for reliable analytical methods capable of detecting these compounds in biological matrices. Hair offers several advantages for drug testing, including a long detection window, minimal invasiveness, and resistance to adulteration; however, detecting synthetic cannabinoids in hair remains challenging due to their low incorporation levels and structural diversity. This study focuses on the method development and optimization of an LC-MS/MS technique for the detection of selected …

Neurobehavioral Mechanisms Of Psychotic-Like Experiences And Cannabis Use, Ethan Campbell

Psychology ETDs

As cannabis use has increased steadily over the past decade, there is critical need to evaluate early cannabis use as a potential risk factor for the development of psychosis. Neurobehavioral mechanisms underlying novelty salience could clarify how cannabis exposure may influence subclinical psychotic-like experiences (PLEs). The present study leveraged dynamic functional connectivity and task-fMRI to assess the role of novelty processing in cannabis use and PLEs. A group of brain regions dynamically tied to the salience network while viewing short films were found to increase their activation as a function of stimulus novelty during a novelty bandit task. PLEs were …

Modeling Mineral Redistribution In Biological Tissue Using Apple As An In Vitro Analogue, Daler Djuraev, Ali Algemsh, Halima Alazeb, Zeenia Ahmed

Publications and Research

This project aims to model mineral (ion) redistribution that occurs in human soft tissue after injury or mechanical/thermal stress. Because direct, repeatable in vivo measurements are difficult, we use apples as an in vitro analogue: their mineral content is relatively uniform and the tissue can be cut, dried, and repeatedly imaged under controlled conditions. Using X-ray imaging, we tracked how minerals in apple tissue move toward damaged regions immediately after cutting, and how subsequent drying at room temperature drives a redistribution toward the central core. We also observed that biological degradation (decay) alters mineral density over time, indicating that even …

Efficacy Of Oil And Gas Production Site Remediation In U.S. Arid/Semi-Arid Regions, Skye Ontiveros

Architecture and Planning ETDs

Oil and gas production (OGP) is expanding, paralleled by its polluting leaks and spills (LS), and outpaced by its waste. This raises the question: Does remediation of LS occur effectively when needed to protect the environment and public, particularly in major producing regions like arid/semi-arid regions (ASAR), which account for approximately 72% of US oil and 42% of gas production? To answer, a review of the eight largest national remedial laws, sourced from the Code of Federal Regulations (CFR), identified 14 OGP exemptions for remedial determinants (RDs): factors affecting remedial frequency and efficacy (e.g. LS monitoring and chemical disclosure). An …

What’S That Smell? It’S Climate Change!, Perry Gregory

Capstones

Climate change is going to make New York City smell worse. Reporter Perry Gregory breaks down the process of olfaction and explains how heat affects what we smell. The piece features a collage of voices of New Yorkers describing the current smell profile of the city. The report features insight from several Atmospheric Scientists into why New York City is getting hotter and more humid, and how those climate changes will make the existing smells of the city stronger, and worse. The most economically vulnerable New Yorkers, who cannot afford air conditioning to buffer them from heat, will be the …

Stress During Adolescence: A Characterization Of Anxiety-Like Behavior, And The Mrna Expression Of Neuroimmune Factors, Clock And Stress Genes In Corticolimbic Areas., Annette Fernandez Oropeza, Annette K. Fernandez Oropeza

Biomedical Sciences ETDs

Adolescence represents a critical window of frontal cortex (FC) maturation and corticolimbic circuit refinement that supports stress and emotion regulation. Disruption of these processes by early-life insults such as prenatal alcohol exposure (PAE) or adolescent stress increases vulnerability to anxiety and mood disorders, in part through circadian–immune dysregulation. The circadian transcription factor Bmal1 and the proinflammatory cytokine tumor necrosis factor-alpha (TNFα) have emerged as key regulators of neuroimmune signaling and synaptic communication, yet their interactions across developmental risk contexts remain poorly understood. This dissertation examined the effects of mild adolescent isolation stress, with and without PAE, on anxiety-like behaviors and …

A Halloween Decoration’S Scary Implications For Real Bats, Coralie Carlson

Capstones

This investigative article examines the online illegal trade of taxidermied bats and how the sales are threatening one particularly showy species: the painted woolly bat.

My OSINT research shows where the bats are still sold – from Amazon to independent websites offering bulk orders – and tracks the sellers and buyers, while weaving in the scientific and cultural history this little-known colorful bat and the conservationists’ race against time to protect them.

The very existence of the painted woolly bat is threatened by Americans who want to display the dead bats in their homes as spooky decorations. Researchers (including a …

Krasg12d Mutation Promotes Pancreatic Tumorigenesis By Suppressing Sirtuin Three Via The Guanine Nucleotide Exchange Factor Rcc1, Taoyi Mai, Mengwen Wang, Ya Qiu, Wenhua Lu, Hongyu Wu, Shuna Chen, Paul J Chiao, Peng Huang

Faculty, Staff and Student Publications

KRASG12D mutation is a prevalent gain-of-function mutation that drives pancreatic cancer tumorigenesis, but the underlying mechanisms that promote KRAS-induced cell proliferation and tumor formation remain elusive. To uncover the molecular pathways that facilitate KRASG12D-driven malignant transformation, we measured the transcriptomic alterations at various time points after induction of KRASG12D expression in human pancreatic normal epithelial cells. KEGG pathway enrichment of the differentially expressed genes (DEGs) showed that the major DEGs were located in pathways that regulate nicotinate/nicotinamide metabolism, TNF signaling, and microRNAs associated with cancer. Among these molecular alterations, the NAD-dependent deacetylase gene SIRT3 was significantly down-regulated by KRASG12D. Conversely, …

The Relationship Between Light Physical Activity And 10-Year Weight Change In 2,868 U.S. Adults: A National Health And Nutrition Examination Survey Investigation, Chloe Diane Cory

Theses and Dissertations

The prevalence of obesity has steadily increased over the past several decades. About 13.4% of Americans aged 20-74 had obesity in 1960-1962 and the prevalence has steadily increased to 40.3% in 2021-2023--more than a 3-fold increase. PURPOSE: The aim of this study was to evaluate the relationship between time spent in light physical activity (LPA) and 10-year weight change in a random sample of 2868 women and men representative of the U.S. adult population. METHODS: Data were used from the National Health and Nutrition Examination Survey (NHANES) from the 2003-2006 data cycles. Participants were limited to non-pregnant U.S. …

Application Of Augmented Reality Technology As A Dietary Monitoring And Control Measure Among Adults: A Systematic Review, Gabrielle Victoria Gonzalez, Bingjing Mao, Ruxin Wang, Wen Liu, Chen Wang, Tung Sung Tseng

School of Public Health Faculty Publications

Background/Objectives: Traditional dietary monitoring methods such as 24 h recalls rely on self-report, leading to recall bias and underreporting. Similarly, dietary control approaches, including portion control and calorie restriction, depend on user accuracy and consistency. Augmented reality (AR) offers a promising alternative for improving dietary monitoring and control by enhancing engagement, feedback accuracy, and user learning. This systematic review aimed to examine how AR technologies are implemented to support dietary monitoring and control and to evaluate their usability and effectiveness among adults. Methods: A systematic search of PubMed, CINAHL, and Embase identified studies published between 2000 and 2025 that evaluated …

Sex Disparities In Prescription Opioids Associated Cardiovascular Adverse Events, Li Ma

Theses and Dissertations

The opioid crisis in the United States has evolved from a medical response to pain into a nationwide public health emergency. The prescription opioids (POs) – associated cardiovascular adverse events (CVAEs) remain insufficiently studied, especially in relation to sex disparities. This dissertation investigates sex disparities in PO-associated cardiovascular adverse events (CVAEs) through an analytic framework integrating artificial-intelligence-assisted literature mining and real-world pharmacovigilance analytics. In the analytic framework, first, AI powered topic modeling was employed to uncover POs-associated CVAEs risks with a focus on sex differences. A total of 1,837 PubMed abstracts were analyzed using two methods, Latent Dirichlet Allocation (LDA) …

Anexelekto (Axl)/Mer Inhibitor Tamnorzatinib In Patients With Relapsed/Refractory Acute Myeloid Leukaemia: Results From A Phase I (Monotherapy) And Phase Ii (Combination With Venetoclax) Clinical Study, Margaret T Kasner, Nigel Courtenay-Luck, Courtney Dinardo, Sean M Post, Praneeth Baratam, George N Magrath, Takaaki Nakamura, Akifumi Fujii, Sergio Prados, Naoki Honda, Mary Mcbride, Paula Edwards-Holmes, Robert Stuart

Faculty, Staff and Student Publications

Introduction: Relapsed/refractory (R/R) acute myeloid leukaemia (AML) is a life-threatening haematological malignancy without effective treatments. Anexelekto (Axl) and Mer receptor tyrosine kinases have emerged as important therapeutic targets in AML for their crucial role in survival of AML cells. Tamnorzatinib (ONO-7475) is a potent and highly selective inhibitor of Axl/Mer. We report first-in-human study of tamnorzatinib (NCT03176277) in patients with R/R AML.

Methods: Tamnorzatinib was administered as monotherapy (n = 20) to determine an appropriate biological dose of tamnorzatinib and then in combination (n = 22) with venetoclax to evaluate safety and clinical efficacy.

Results: Tamnorzatinib was safe …

Agpat2 Acts At The Crossroads Of Lipid Biosynthesis And Drp1-Mediated Er Morphogenesis, Yoshihiro Adachi, Mauricio Torres, Allen H Hunter, Woo Jung Cho, Meixia Pan, Xianlin Han, Guangwei Du, Ling Qi, Miho Iijima, Hiromi Sesaki

Faculty, Staff and Student Publications

The morphology of the endoplasmic reticulum (ER), characterized by central sheets and peripheral tubules, is controlled by membrane-shaping proteins. However, the role of lipids in ER morphogenesis remains elusive, despite the ER being the major site for lipid synthesis. Here, by examining the role of eighteen phosphatidic acid (PA)-generating enzymes in ER morphology, we identify lysophosphatidic acid acyltransferase 2 (AGPAT2) as a critical factor in mouse and human cells. AGPAT2 produces PA in the glycerophospholipid/triacylglycerol biosynthesis pathway, and its mutations cause congenital generalized lipodystrophy. We find that AGPAT2-generated PA drives ER tubulation through gene knockout, 3D structural analysis by FIB-SEM, …

Measurable Imaging-Based Changes In Enhancement Of Intrahepatic Cholangiocarcinoma After Radiotherapy Reflect Physical Mechanisms Of Response, Brian De, Prashant Dogra, Mohamed Zaid, Dalia Elganainy, Kevin Sun, Ahmed M Amer, Charles Wang, Michael K Rooney, Enoch Chang, Hyunseon C Kang, Zhihui Wang, Priya Bhosale, Bruno C Odisio, Timothy E Newhook, Ching-Wei D Tzeng, Hop S Tran Cao, Yun S Chun, Jean-Nicholas Vauthey, Sunyoung S Lee, Ahmed Kaseb, Kanwal Raghav, Milind Javle, Bruce D Minsky, Sonal S Noticewala, Emma B Holliday, Grace L Smith, Albert C Koong, Prajnan Das, Vittorio Cristini, Ethan B Ludmir, Eugene J Koay

Faculty, Staff and Student Publications

Escalated doses of radiotherapy associate with improved local control and overall survival (OS) in intrahepatic cholangiocarcinoma (iCCA), but personalization remains limited because conventional size-based CT criteria correlate poorly with outcomes. We hypothesized that quantitative enhancement measurements would better predict clinical outcomes and guide individualized RT optimization. In a retrospective cohort of 154 patients, we analyzed pre- and post-RT CT scans using quantitative European Association for Study of Liver (qEASL) to derive viable tumor volumes, comparing enhancement-based metrics with size-based RECIST and linking them to outcomes via survival and mathematical modeling. Change in enhancement volume was strongly associated with OS after …

Stromal Fibroblastic Mutant Trp53 Promotes Mammary Tumor Development Via Enhanced Secretion Of Paracrine Factors, Bin Liu, Shunbin Xiong, Abie Williams-Villalobo, Gilda Chau, Yuan Qi, Hehua Chen, Carenza Johnson, Dhruv Chachad, Joy Mcdaniel, Xiaoping Su, Adel K El-Naggar, Guillermina Lozano, Yun Zhang

Faculty, Staff and Student Publications

Mutations in the tumor suppressor gene TP53 have been identified in breast cancer-associated fibroblasts and are associated with poor patient prognosis. However, the functional impact of fibroblastic mutant p53 on breast cancer development remains unclear. To investigate this, we compared female mice harboring HER2-driven mammary tumors with a fibroblast-specific Trp53 mutation (NP) to those with wild-type fibroblastic Trp53 (N). NP mice exhibited significantly shorter median tumor-free survival than N mice. RNA sequencing of NP and N tumors and mammary glands revealed numerous differentially expressed genes (DEGs) between tumors and the corresponding glands in both genotypes. Notably, the NP tumors showed …

Understanding Outer Membrane Vesicle Biogenesis In Bacteroides Thetaiotaomicron, Evan J. Pardue

Arts & Sciences Graduate Student Theses and Dissertations

Outer membrane vesicles (OMVs) are small proteoliposomes generated by active protrusion of the outer membrane (OM) in Gram-negative bacteria during growth. Over 60 years of experimentation has ascribed numerous functions to OMVs produced by different bacteria. However, the mechanism(s) by which OMVs are produced is poorly understood. Due to this, the field remains controversial because many regard OMVs as byproducts of cell lysis and question their physiological relevance. Previous studies in Pseudomonas aeruginosa and related species confirmed that these microbes undergo programmed cell death that results in the stochastic release of vesicles and cellular contents. On the contrary, Bacteroides spp. …

Mitochondrial Calcium Uniporter Regulates Itam-Dependent Platelet Activation, Jehiel Abigail Ajanel Gomez

Arts & Sciences Graduate Student Theses and Dissertations

Thromboembolic conditions are the leading cause of disability and death in the United States. Platelets play an important role in the pathophysiology of thrombus formation by aiding in the formation and stabilization of the clot. Central to platelet activation is cytoplasmic calcium, which increases after platelet activation through ITAM (Immunoreceptor tyrosine-based activation motif) or GPCR (G-protein-coupled receptor) receptors. Platelet mitochondria rely on cytoplasmic calcium for mitochondrial calcium influx, which is critical for ATP formation and regulation of mitochondrial reactive oxygen species. In other cells, mitochondrial calcium entry is regulated by the multimeric protein complex, mitochondrial calcium uniporter (MCU). Deletion of …

Impact Of Cover Crops On Soil Hydraulic Properties And Water Dynamics, Sabin Shrestha

Tennessee State University Alumni Theses and Dissertations

Cover cropping has emerged as a climate adaptation strategy in sustainable agriculture to enhance agroecosystem resilience against weather extremes such as floods, droughts, and erratic rainfall patterns. But how well cover crops (CCs) can buffer crop yields against weather variability depends on their ability to regulate improvements in soil hydrology. Through a global meta-analysis of 1007 pairwise observations from 146 studies spanning across 34 countries, we investigated the overall effects of CCs on six key soil hydraulic properties and further examined how environmental and management factors moderate these overall responses. Results showed that CCs significantly improved total porosity by 7.7%, …

Acid And Sequential Acid–Alkali Extraction To Mitigate Enzyme Activity And Off-Flavors In Chickpea Protein: Implications On Structural, Functional, And Bioactive Properties, Kavitha Lakshmipathy, Sukanya Poddar, Nikitha Modupalli, Scott Lafontaine, Md Mahfuzur Rahman

Food Science Faculty Publications and Presentations

Chickpea proteins offer significant nutritional and functional benefits in food products; however, their utilization is often restricted by off-flavors, primarily for lipoxygenase (LOX) and lipase activity. This study aims to develop a novel extraction method by combining acid (pH 2.0) extraction with the conventional alkali (pH 9.0) method to inactivate enzymes and enhance protein quality. Acid-extracted proteins exhibit the highest purity (83.4%), albumin content, and structural flexibility (46.65% random coil). Both acid and sequential acid-alkali-extracted proteins significantly reduced LOX (0.75 and 0.88 U/g) and lipase (0.10 and 0.08 U/g) activity. Acid extraction significantly lowers volatile compounds such as hexanal (0.0409 …

Structural Basis Of Panx1 Permeation And Positive Modulation By Mefloquine, Yangyang Li, Zheng Ruan, Junuk Lee, Ian Orozco, Edward Zhou, Juan Du, Wei Lü

Department of Biochemistry and Molecular Biology Faculty Papers

Purinergic signaling relies on ATP release through exocytosis and large-pore channels. Large-pore channels permeate both small anions like chloride and large signaling molecules like ATP, but how this broad cargo selectivity is structurally controlled remains elusive. Here we investigate PANX1, a prototypical large-pore channel, and uncover structural plasticity at the extracellular entrance formed by seven tryptophan (W74) residues. The W74 sidechains are flexible, sampling conformations that range from a constricted state permissive only to chloride to a dilated state compatible with ATP. These states are coupled to variable cation-π interactions between W74 and arginine 75 (R75), suggesting a mechanism for …

Genetic Modifiers And Ascertainment Drive Variable Expressivity Of Complex Disorders, Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Serena Noss, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, Laila El Khattabi, Ingrid Van De Laar, Rafik Tadros, Connie R Bezzina, Marjon Van Slegtenhorst, Janneke Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddharth Banka, Anke Van Dijck, Charles Schwartz, Els Voorhoeve, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Mathilde Lefebvre, Kate Pope, Penny Snell, Amber Boys, Paul J Lockhart, Myla Ashfaq, Elizabeth Mccready, Margaret Nowacyzk, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Maria Grazia Bruccheri, Giuseppa Maria Luana Mandarà, Francesca Mari, Flavia Privitera, Ilaria Longo, Aurora Curró, Alessandra Renieri, Boris Keren, Perrine Charles, Silvestre Cuinat, Mathilde Nizon, Olivier Pichon, Claire Bénéteau, Radka Stoeva, Dominique Martin-Coignard, Sophia Blesson, Cedric Le Caignec, Sandra Mercier, Marie Vincent, Christa L Martin, Katrin Mannik, Alexandre Reymond, Laurence Faivre, Erik Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Joris Andrieux, Santhosh Girirajan

Faculty, Staff and Student Publications

Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants on the clinical outcomes of 2,455 individuals with primary variants. Among 124 families with the 16p12.1 deletion, distinct rare and common variant classes conferred risks for specific developmental features, including short tandem repeats for neurological defects. Network analysis suggested distinct mechanisms involving 16p12.1 genes and secondary variants specific to each proband. Within disease and population cohorts of 976 individuals with the 16p12.1 deletion, we found opposing effects of secondary variants on clinical features across ascertainments. Additional analysis of …

Retrospective Review Of Metastatic Hormone Receptor-Positive Inflammatory Breast Cancer Patients Reveals Poor Responses To Cyclin Dependent Kinase 4/6 Inhibition, Azadeh Nasrazadani, Rebecca S Tidwell, Megumi Kai, Bora Lim, Vicente Valero, Debu Tripathy, Sadia Saleem, Bisrat G Debeb, Anthony Lucci, Wendy A Woodward, Rachel M Layman

Faculty, Staff and Student Publications

Background: Patients with inflammatory breast cancer (IBC) have aggressive biology and relatively inferior responses to standard-of-care (SOC) therapies. Understanding the efficacy of SOC therapies in IBC is critical to optimize outcomes. Our objective was to assess the progression-free survival (PFS) of metastatic hormone receptor-positive HER2-negative/low (HR+HER2-) IBC patients treated with CDK4/6 inhibitors (CDKIs) and hormonal therapy (HT).

Methods: Data from 58 IBC patients with metastatic HR + /HER2- IBC from a single institution were reviewed. The medians (95% confidence intervals) of overall survival (OS), PFS, and time on treatment (ToT) from the time of CDKI initiation were reported via the …

Patent Searching With Uspto, Derwent Innovation And Lens.Org, Ibis Anette Moreno-Lozano

Day Family Research Lab Workshop Series

No abstract provided.