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Full-Text Articles in Entire DC Network
What Is Screen Apnea And How Does It Affect You?, Kristi M. Soileau
What Is Screen Apnea And How Does It Affect You?, Kristi M. Soileau
New Orleans Dental Association News
Screen apnea is a modern epidemic of significant proportions. Research suggests that nearly 80% of people unconsciously alter their breathing, often holding their breath or breathing shallowly, while working on digital devices. This subtle shift in respiration, sometimes called “email apnea,” can place the body into a low-grade stress response without being noticed by the individual at the screen. When breathing becomes restricted from poor posting or content anxiety, the nervous system enters into a sympathetic response, much as it interprets signs of threats to that person. The resultant physiological response may be exhibited by muscle tension, mental fog, increased …
Development Of Novel Plasma Proteomic Biomarkers For Cancer-Associated Thrombosis In An Advanced Cancer Cohort, Preeti, Mrinal Ranjan, Dang Pham, Juan L Bueno, Micheline M Resende, Michael E Scheurer, Christopher I Amos, Chao Cheng, Ang Li
Development Of Novel Plasma Proteomic Biomarkers For Cancer-Associated Thrombosis In An Advanced Cancer Cohort, Preeti, Mrinal Ranjan, Dang Pham, Juan L Bueno, Micheline M Resende, Michael E Scheurer, Christopher I Amos, Chao Cheng, Ang Li
Faculty, Staff and Students Publications
Background: Existing risk models for cancer-associated thrombosis (CAT) show suboptimal performance in selective high-risk populations with cancer. Affinity-based plasma proteomics offers a novel approach for detecting CAT risk.
Objectives: To identify plasma biomarkers for CAT using proximity extension assays in an advanced cancer cohort.
Methods: We performed a nested case-control study using the Olink Explore HT panel. The final cohort included 57 patients with CAT and 113 matched control patients from 5 selected cancer types who had samples collected between cancer diagnosis and chemotherapy initiation. Random survival forest model was used to assess nonlinear associations with CAT in 5416 normalized …
Progressive Cardiac Phenotypes And Reduced Reversibility From Long-Term Cugexp Rna Expression In A Dm1 Mouse Model, Rong-Chi Hu, Mohammadreza Tabary, Xander Ht Wehrens, Thomas A Cooper
Progressive Cardiac Phenotypes And Reduced Reversibility From Long-Term Cugexp Rna Expression In A Dm1 Mouse Model, Rong-Chi Hu, Mohammadreza Tabary, Xander Ht Wehrens, Thomas A Cooper
Faculty, Staff and Students Publications
Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the DMPK gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic, with progressive worsening of disease manifestations in affected tissues. Disease progression is attributed to somatic expansion of the CTG repeats with age, resulting in production of CUGexp RNA with enhanced intrinsic toxicity due to increased MBNL sequestration. To determine the degree to which cardiac disease progression can occur independently of repeat expansion, we used a transgenic DM1 mouse model with inducible heart-specific expression of …
Dna Methylation Signatures Associated With Bipolar Disorder In Peripheral Blood Improve Prediction Models, Markos Tesfaye, Anne-Kristin Stavrum, Kira D Höffler, Kevin S O'Connell, Friederike S David, Melanie E Garrett, Sonia Hesam-Shariati, Bronwyn J Overs, Claudia Pisanu, Luana Spano, Oliver J Watkeys, Antoine Weihs, Rafaella Ardau, Allison E Ashley-Koch, Lavinia Athanasiu, Jean C Beckham, Kyle J Bourassa, Caterina Chillotti, Srdjan Djurovic, Ole K Drange, Josef Frank, Anouar Khayachi, Nathan A Kimbrel, Lourdes Martorell, Susanne Meinert, Ingrid Melle, Gunnar Morken, Pasquale Paribello, Marco Pinna, Gloria Roberts, Guy Rouleau, Peter R Schofield, Esteban Sepúlveda, Giovanni Severino, Vidar M Steen, Frederike Stein, Fabian Streit, Va Mid-Atlantic Mirecc Workgroup, Trine Vik Lagerberg, Martin Alda, Udo Dannlowski, Andreas J Forstner, Janice M Fullerton, Hans J Grabe, Melissa J Green, Tilo Kircher, Javier Labad, Mirko Manchia, Philip B Mitchell, Jair C Soares, Alessio Squassina, Alexander Teumer, Leonardo Tondo, Elisabet Vilella, Ole A Andreassen, Boris Chaumette, Gabriel R Fries, Stephanie Le Hellard
Dna Methylation Signatures Associated With Bipolar Disorder In Peripheral Blood Improve Prediction Models, Markos Tesfaye, Anne-Kristin Stavrum, Kira D Höffler, Kevin S O'Connell, Friederike S David, Melanie E Garrett, Sonia Hesam-Shariati, Bronwyn J Overs, Claudia Pisanu, Luana Spano, Oliver J Watkeys, Antoine Weihs, Rafaella Ardau, Allison E Ashley-Koch, Lavinia Athanasiu, Jean C Beckham, Kyle J Bourassa, Caterina Chillotti, Srdjan Djurovic, Ole K Drange, Josef Frank, Anouar Khayachi, Nathan A Kimbrel, Lourdes Martorell, Susanne Meinert, Ingrid Melle, Gunnar Morken, Pasquale Paribello, Marco Pinna, Gloria Roberts, Guy Rouleau, Peter R Schofield, Esteban Sepúlveda, Giovanni Severino, Vidar M Steen, Frederike Stein, Fabian Streit, Va Mid-Atlantic Mirecc Workgroup, Trine Vik Lagerberg, Martin Alda, Udo Dannlowski, Andreas J Forstner, Janice M Fullerton, Hans J Grabe, Melissa J Green, Tilo Kircher, Javier Labad, Mirko Manchia, Philip B Mitchell, Jair C Soares, Alessio Squassina, Alexander Teumer, Leonardo Tondo, Elisabet Vilella, Ole A Andreassen, Boris Chaumette, Gabriel R Fries, Stephanie Le Hellard
Faculty, Staff and Student Publications
Background: Bipolar disorder (BD) is a major mood disorder influenced by both genetic and environmental factors. While DNA methylation from peripheral tissues can reflect both genetic and environmental influences and reveal insights into disease biology, it remains understudied in BD. DNA methylation signatures may complement polygenic scores (PGS) and hold potential as biomarkers. Here, we conducted the largest epigenome-wide association study (EWAS) of BD to date and evaluated the predictive value of polymethylation scores (PMS) in classifying case-control status.
Methods: DNA methylation from peripheral blood of 1729 cases and 1747 controls, comprising twelve cohorts, was obtained. We performed meta-analyses for …
Identifying Novel Gene Dysregulation Associated With Opioid Overdose Death: A Meta-Analysis Of Differential Gene Expression In Human Prefrontal Cortex, Javan K Carter, Bryan C Quach, Caryn Willis, Melyssa S Minto, Dana B Hancock, Janitza Montalvo-Ortiz, Olivia Corradin, Ryan W Logan, Consuelo Walss-Bass, Brion S Maher, Eric Otto Johnson
Identifying Novel Gene Dysregulation Associated With Opioid Overdose Death: A Meta-Analysis Of Differential Gene Expression In Human Prefrontal Cortex, Javan K Carter, Bryan C Quach, Caryn Willis, Melyssa S Minto, Dana B Hancock, Janitza Montalvo-Ortiz, Olivia Corradin, Ryan W Logan, Consuelo Walss-Bass, Brion S Maher, Eric Otto Johnson
Faculty, Staff and Student Publications
Only recently have human postmortem brain studies of differential gene expression (DGE) associated with opioid overdose death (OOD) been published; sample sizes from these studies have been modest (N = 40-153). To increase statistical power to identify OOD-associated genes, we leveraged human prefrontal cortex RNA-seq data from four independent OOD studies and conducted a transcriptome-wide DGE meta-analysis (N = 272). Using a unified gene expression data processing and analysis framework across studies, we meta-analyzed 20, 098 genes and found 335 significant differentially expressed genes (DEGs) by OOD status (false discovery rate < 0.05). Of these, 66 DEGs were among the list of 303 genes reported as OOD-associated in prior prefrontal cortex molecular studies (e.g., genes/gene families OPRK1, NPAS4, DUSP, EGR). The remaining 269 DEGs were not previously reported (e.g., NR4A2, SYT1, HCRTR2, BDNF). There was little evidence of genetic drivers for the observed differences in gene expression between opioid addiction cases and controls. Enrichment analyses for the DEGs across molecular pathway and biological process databases highlight an interconnected set of genes and pathways linked to orexin and tyrosine kinase receptors through MEK/ERK/MAPK signaling to affect neuronal plasticity.
The Ccu Disease Hunters: Putting Undergraduate Research To Work To Improve Community Health And Training The Next Generation Of Doctors, Paul E. Richardson
The Ccu Disease Hunters: Putting Undergraduate Research To Work To Improve Community Health And Training The Next Generation Of Doctors, Paul E. Richardson
Journal of the South Carolina Academy of Science
No abstract provided.
Table Of Contents
Journal of the South Carolina Academy of Science
No abstract provided.
Science In Service Of Society: My Journey In Immunology And Public Engagement, Prakash Nagarkatti
Science In Service Of Society: My Journey In Immunology And Public Engagement, Prakash Nagarkatti
Journal of the South Carolina Academy of Science
No abstract provided.
Pharmacogenomic-Guided Prescribing And Polypharmacy Across Age Groups In Obsessive-Compulsive Disorder: A Retrospective Study, Sheldon R Garrison, Matthew W Boyer, Anthony W Zoghbi, Rachel A Schwartz, Nicolette Weisensel, Martin E Franklin, Madeline M Hartig, Maharaj Singh, Sreya Vadapalli
Pharmacogenomic-Guided Prescribing And Polypharmacy Across Age Groups In Obsessive-Compulsive Disorder: A Retrospective Study, Sheldon R Garrison, Matthew W Boyer, Anthony W Zoghbi, Rachel A Schwartz, Nicolette Weisensel, Martin E Franklin, Madeline M Hartig, Maharaj Singh, Sreya Vadapalli
Faculty, Staff and Students Publications
Background: This study evaluated medication utilization in children, adolescents, and adults with obsessive-compulsive disorder (OCD), a chronic psychiatric condition characterized by intrusive thoughts and repetitive behaviors. Although first-line treatments include selective serotonin reuptake inhibitors (SSRIs) and cognitive behavioral therapy (CBT), the heterogeneous biological underpinnings contribute to suboptimal outcomes, with 40-60% of individuals not responding to SSRIs. This complex phenotype often leads to psychotropic polypharmacy, which may be mitigated by incorporating combinatorial pharmacogenomic (PGx) testing into protocol-based care to identify potential gene-drug interactions.
Methods: A retrospective review was conducted of individuals with OCD aged 8 to 65 years who received either …
Comparative Behavioral Impacts Of Neuroactive Pharmaceuticals On Crayfish Locomotion, Grace Elizabeth Smith
Comparative Behavioral Impacts Of Neuroactive Pharmaceuticals On Crayfish Locomotion, Grace Elizabeth Smith
Masters Theses
Pharmaceuticals are increasingly recognized as contaminants of concern in aquatic ecosystems, often entering waterways due to incomplete removal by wastewater treatment plants. Despite frequent detection, the effects of these compounds on non-target, neurochemically sensitive organisms such as crayfish remains underexplored. Gabapentin, an anticonvulsant that binds to presynaptic voltage-gated calcium channels and reduces excitatory neurotransmitter release, is one such emerging contaminant. Given crayfish’s ecological importance and sensitivity to neuroactive substances, exposure to gabapentin may disrupt key behaviors such as locomotion. To place gabapentin’s effects in context, we also examined escitalopram (Lexapro), a selective serotonin reuptake inhibitor that elevates synaptic 5-HT, and …
Genetic Analysis Of The X-Linked Adrenoleukodystrophy Gene Abcd1 In Drosophila Uncovers A Conserved Phenotype, Joshua Manor, Sharayu V Jangam, Hyung-Lok Chung, Pranjali Bhagwat, Jonathan C Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B Moser, Suzette M Huguenin, Michael F Wangler
Genetic Analysis Of The X-Linked Adrenoleukodystrophy Gene Abcd1 In Drosophila Uncovers A Conserved Phenotype, Joshua Manor, Sharayu V Jangam, Hyung-Lok Chung, Pranjali Bhagwat, Jonathan C Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B Moser, Suzette M Huguenin, Michael F Wangler
Duncan NRI Faculty and Staff Publications
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This disorder exhibits striking heterogeneity; some male patients develop an early childhood neuroinflammatory demyelination disorder, while other patients, including adult males and most affected female carriers, experience a chronic progressive myelopathy. Adrenocortical failure is observed in almost all male patients, with the age of onset varying, sometimes being the first diagnostic finding. The gene underlying this spectrum of disease encodes an ATP-binding cassette (ABC) transporter that …
The Effects Of Blue Light From Technology On Sleep Health In Adolescents And Young Adults: A Literature Review, Matthew F. Dilloian, Dianne Langford Ph.D., Charalampos Papachristou Ph.D.
The Effects Of Blue Light From Technology On Sleep Health In Adolescents And Young Adults: A Literature Review, Matthew F. Dilloian, Dianne Langford Ph.D., Charalampos Papachristou Ph.D.
Rowan-Virtua Research Day
Background: Digital screens, such as smartphones, computers, and tablets, emit blue light in the short wavelength range of ~400–500 nm. This exposure impacts the suprachiasmatic nucleus, the brain's biological clock, which regulates the sleep-wake cycle via melatonin secretion from the pineal gland. Blue light is known to suppress melatonin, potentially leading to poor sleep quality and sleep disruptions. Significance: With approximately 90% of Americans using electronic devices within one hour of bedtime, understanding these effects is critical for public health. Previous research often excluded young adults, specific target populations, like athletes, or focused solely on the biochemistry of blue …
Impaired Mitochondrial Magnesium Transport Induces Genome-Wide Transcriptional Changes In Hepatic Steatosis, Inflammatory Signaling, And Detoxification Pathways During High-Fat Diet Feeding, Abhishek Shastry, Thiruvelselvan Ponnusamy, Asha Parveen Sakkarai Mohamed, Marianne Assogba, Natarajaseenivasan Kalimuthusamy, Shanmughapriya Santhanam
Impaired Mitochondrial Magnesium Transport Induces Genome-Wide Transcriptional Changes In Hepatic Steatosis, Inflammatory Signaling, And Detoxification Pathways During High-Fat Diet Feeding, Abhishek Shastry, Thiruvelselvan Ponnusamy, Asha Parveen Sakkarai Mohamed, Marianne Assogba, Natarajaseenivasan Kalimuthusamy, Shanmughapriya Santhanam
Rowan-Virtua Research Day
Calcium overload during fatty diet consumption induces oxidative stress and mitochondrial apoptosis. Intramitochondrial magnesium inhibits calcium uptake into mitochondria; therefore, modulating the activity of the mitochondrial magnesium transporter Mrs2 may regulate calcium-induced hepatocellular stress. As previous work demonstrates that liver-specific Mrs2 inhibition increases hepatic lipid deposition, RNA-sequencing was performed to identify potential transcriptional mechanisms for hepatocellular stress.
Mrs2 knockout (Mrs2KO) mice were generated by crossing male Mrs2fl/fl mice with liver-specific-Cre transgenic mice. Eight-week-old wild-type (Mrs2WT) and Mrs2KO mice were placed on chow or high-fat diet (HFD) for 12 months (n=3/group). Whole liver was collected …
Olfaction And Clinical Cognition In Medicine: An Under-Theorized Sensory Modality In Healthcare, James Espinosa, Alan Lucerna
Olfaction And Clinical Cognition In Medicine: An Under-Theorized Sensory Modality In Healthcare, James Espinosa, Alan Lucerna
Rowan-Virtua Research Day
Background: Olfaction is the most evolutionarily ancient sensory modality and retains privileged neuroanatomical connections to limbic and threat-detection systems. Despite its biological significance, olfactory perception is under-discussed in contemporary medical education and academic literature, particularly in healthcare environments.
Objective: To examine olfaction as a low-bandwidth, high-salience diagnostic signal in medicine; to explore its neurobiological foundations; and to analyze its ethical, social, and professional implications within Emergency Medicine and other clinical settings.
Methods: Narrative synthesis of neuroscience, evolutionary biology, volatile organic compound (VOC) research, and clinical observational practice.
Discussion: Olfactory pathways bypass primary thalamic relay and project directly to limbic structures …
The Physics And Biology Of High-Risk Falls: Biomechanical Analysis And Physics Assists In Understanding Why The Threshold For High-Risk Was Lowered To 10 Feet, James Espinosa, Alan Lucerna
The Physics And Biology Of High-Risk Falls: Biomechanical Analysis And Physics Assists In Understanding Why The Threshold For High-Risk Was Lowered To 10 Feet, James Espinosa, Alan Lucerna
Rowan-Virtua Research Day
Background: Recent revisions to the National Guideline for the Field Triage of Injured Patients lowered the high-risk fall threshold from >20 feet to >10 feet for all ages. Guideline changes are multifactorial and typically reflect epidemiologic registry data, injury severity trends, and systems-level performance feedback. However, biomechanical analysis assists in understanding the importance of the change.
Objective: To demonstrate that a 10-foot fall generates sufficient kinetic energy and deceleration forces to exceed structural tolerance thresholds in multiple human tissues, and to show that fundamental physics independently supports the recent trauma protocol change.
Methods: Application of gravitational motion equations (v = …
Sex Differences In Insulin Resistance And Triglyceride/Hdl-Cholesterol Ratio In Human Subjects, Jiyoon Jung, Lakshman Segar, Christine Whitehair, James Bailey, Ashley Coleman, George Scott
Sex Differences In Insulin Resistance And Triglyceride/Hdl-Cholesterol Ratio In Human Subjects, Jiyoon Jung, Lakshman Segar, Christine Whitehair, James Bailey, Ashley Coleman, George Scott
Rowan-Virtua Research Day
Background: Insulin resistance (IR) plays a major role in dyslipidemia and the associated cardiovascular disease risk. To date, it remains unclear as to how IR alters plasma lipid profile in males versus females. The present study is an initial step to determine sex-specific differences in IR and plasma lipid profile using 40 μL of capillary blood. Methods: 19 adults aged 30-64 were recruited from Rowan Medicine-Sewell clinics, with 13 participants (9 males, 4 females) consenting to the study. After collecting 40 μL of capillary blood via finger prick, the samples were analyzed for glucose, triglyceride (TG), and HDL-cholesterol (HDL-C) using …
Apathy, Effort-Based Decisions And Brain Integrity In Alzheimer’S And Parkinson’S Diseases, Lee-Anne Morris, Hideo Suzuki, Seonjoo Lee, Zekai Jin, Bryan B Chen, Ana Marin, Edward D Huey, Yunglin Gazes, Sarah R Heilbronner, Campbell J Le Heron, Nora Vanegas-Arroyave
Apathy, Effort-Based Decisions And Brain Integrity In Alzheimer’S And Parkinson’S Diseases, Lee-Anne Morris, Hideo Suzuki, Seonjoo Lee, Zekai Jin, Bryan B Chen, Ana Marin, Edward D Huey, Yunglin Gazes, Sarah R Heilbronner, Campbell J Le Heron, Nora Vanegas-Arroyave
Faculty, Staff and Students Publications
Apathy, or loss of motivation, is a prominent syndrome accompanying both Alzheimer's and Parkinson's diseases, in addition to other disorders. One approach to understanding motivational loss is to examine the processes underlying goal-directed behaviour. Weighing up rewarding outcomes against the effort costs required to obtain them (effort-based decision-making) is a core computation when deciding to act for outcomes. Although a growing body of evidence points to disruption of this computation in people with apathy, which underlying decision parameters drive this disruption, their neural associations and whether these would generalize or differ across brain disorders have not been examined. People with …
Small Partial Deletion Of A Highly Gc-Rich Foxf1 Exon 1 In Two Deceased Siblings With Alveolar Capillary Dysplasia, Hiuling Chan Joiner, Shruti A Pande, Przemyslaw Szafranski, Partha Sen, Gail Deutsch, Pawel Stankiewicz
Small Partial Deletion Of A Highly Gc-Rich Foxf1 Exon 1 In Two Deceased Siblings With Alveolar Capillary Dysplasia, Hiuling Chan Joiner, Shruti A Pande, Przemyslaw Szafranski, Partha Sen, Gail Deutsch, Pawel Stankiewicz
Faculty, Staff and Students Publications
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by haploinsufficiency of FOXF1. While larger-sized coding and noncoding copy-number variant (CNV) deletions involving the FOXF1 locus are detected in approximately half of histopathologically-diagnosed ACDMPV patients, small CNVs remain diagnostically challenging. Here, we revisited an unsolved case of familial ACDMPV with two affected siblings. Whole genome sequencing (WGS) of 30-year-old archival lung autopsy tissue analyzed using AI powered platform revealed a 151 bp CNV deletion involving a highly GC-rich portion of exon 1 of FOXF1 that was not detected using Sanger sequencing and …
Purine Metabolic Adaptation Protects The Endothelium From Disturbed Flow-Induced Dna Damage And Atherosclerosis, Qian Ma, Yongfeng Cai, Zhidan Zhang, Dingwei Zhao, Yuan Zhao, Peishan Xu, Tammy Lu, Wendy Zhang, Qiuhua Yang, Yaqi Zhou, Varadarajan Sudhahar, Tohru Fukai, Hanjoong Jo, Yiming Xu, Yuqing Huo
Purine Metabolic Adaptation Protects The Endothelium From Disturbed Flow-Induced Dna Damage And Atherosclerosis, Qian Ma, Yongfeng Cai, Zhidan Zhang, Dingwei Zhao, Yuan Zhao, Peishan Xu, Tammy Lu, Wendy Zhang, Qiuhua Yang, Yaqi Zhou, Varadarajan Sudhahar, Tohru Fukai, Hanjoong Jo, Yiming Xu, Yuqing Huo
Faculty, Staff and Students Publications
Despite effective lipid-lowering therapies, atherosclerosis continues to be a leading cause of death, with considerable residual cardiovascular risk. Atherosclerotic lesions develop preferentially at arterial regions exposed to disturbed flow (d-flow), which induces genomic stress, endothelial injury, and barrier dysfunction. Hemodynamic forces are known to reprogram endothelial metabolism, but the role of de novo purine synthesis (DNPS), which supplies nucleotides for genome maintenance and whose terminal steps are catalyzed by the bifunctional enzyme ATIC, remains undefined in atherosclerosis. By integrating bulk and single-cell multiomics with in vitro flow systems and in vivo models, we show that d-flow upregulates DNPS and ATIC …
Large-Scale Genetic Characterization Of Parkinson’S Disease In The African And African Admixed Populations, Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Mathew J Koretsky, Paula Saffie-Awad, Charles Achoru, Funmilola Taiwo, Simon Ozomma, Gerald Onwuegbuzie, Marzieh Khani, Spencer Grant, Lukman Owolabi, Chiamaka Okereke, Olajumoke Oshinaike, Emmanuel Iwuozo, Suleyman Can Akerman, Paul Suhwan Lee, Shyngle Oyakhire, Nosakhare Osemwegie, Kensuke Daida, Sani Abubakar, Adedunni Olusanya, Mariam Isayan, Christiane Alvarez, Rami Traurig, Adebimpe Ogunmodede, Sarah Samuel, Mary B Makarious, Fadimatu Sa'ad, Rashidat Olanigan, Kristin Levine, Ewere Marie Ogbimi, Dan Vitale, Francis Odiase, Francis Ojini, Olanike Odeniyi, Zih-Hua Fang, Nkechi Obianozie, Deborah A Hall, Ernest Nwazor, Tao Xie, Francesca Nwaokorie, Mahesh Padmanaban, Paul Nwani, Ejaz A Shamim, Alero Nnama, David Standaert, Morenikeji Komolafe, Marissa Dean, Godwin Osaigbovo, Elizabeth Disbrow, Ismaila Ishola, Ashley Rawls, Frank Imarhiagbe, Shivika Chandra, Cyril Erameh, Vanessa Hinson, Naomi Louie, Ahmed Idowu, J Solle, Scott A Norris, Abdullahi Ibrahim, Camilla Kilbane, Gauthaman Sukumar, Lisa M Shulman, Daniel Ezuduemoih, Julia Staisch, Sarah Breaux, Clifton Dalgard, Erin R Foster, Abiodun Bello, Andrew Ameri, Raquel Real, Erica Ikwenu, Huw R Morris, Roosevelt Anyanwu, Erin Furr Stimming, Kimberley Billingsley, Wemimo Alaofin, Pilar Alvarez Jerez, Osigwe Agabi, Dena G Hernandez, Rufus Akinyemi, Sampath Arepalli, Laksh Malik, Raymond Owolabi, Yakub Nyandaiti, Hampton L Leonard, Kolawole Wahab, Oladunni Abiodun, Carlos F Hernandez, Fatima Abdulai, Hirotaka Iwaki, Soraya Bardien, Christine Klein, John Hardy, Henry Houlden, Kamalini Ghosh Galvelis, Mike A Nalls, Nabila Dahodwala, Whitley Aamodt, Emily Hill, Alberto Espay, Stewart Factor, Chantale Branson, Cornelis Blauwendraat, Andrew B Singleton, Oluwadamilola Ojo, Lana M Chahine, Njideka Okubadejo, Sara Bandres-Ciga
Large-Scale Genetic Characterization Of Parkinson’S Disease In The African And African Admixed Populations, Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Mathew J Koretsky, Paula Saffie-Awad, Charles Achoru, Funmilola Taiwo, Simon Ozomma, Gerald Onwuegbuzie, Marzieh Khani, Spencer Grant, Lukman Owolabi, Chiamaka Okereke, Olajumoke Oshinaike, Emmanuel Iwuozo, Suleyman Can Akerman, Paul Suhwan Lee, Shyngle Oyakhire, Nosakhare Osemwegie, Kensuke Daida, Sani Abubakar, Adedunni Olusanya, Mariam Isayan, Christiane Alvarez, Rami Traurig, Adebimpe Ogunmodede, Sarah Samuel, Mary B Makarious, Fadimatu Sa'ad, Rashidat Olanigan, Kristin Levine, Ewere Marie Ogbimi, Dan Vitale, Francis Odiase, Francis Ojini, Olanike Odeniyi, Zih-Hua Fang, Nkechi Obianozie, Deborah A Hall, Ernest Nwazor, Tao Xie, Francesca Nwaokorie, Mahesh Padmanaban, Paul Nwani, Ejaz A Shamim, Alero Nnama, David Standaert, Morenikeji Komolafe, Marissa Dean, Godwin Osaigbovo, Elizabeth Disbrow, Ismaila Ishola, Ashley Rawls, Frank Imarhiagbe, Shivika Chandra, Cyril Erameh, Vanessa Hinson, Naomi Louie, Ahmed Idowu, J Solle, Scott A Norris, Abdullahi Ibrahim, Camilla Kilbane, Gauthaman Sukumar, Lisa M Shulman, Daniel Ezuduemoih, Julia Staisch, Sarah Breaux, Clifton Dalgard, Erin R Foster, Abiodun Bello, Andrew Ameri, Raquel Real, Erica Ikwenu, Huw R Morris, Roosevelt Anyanwu, Erin Furr Stimming, Kimberley Billingsley, Wemimo Alaofin, Pilar Alvarez Jerez, Osigwe Agabi, Dena G Hernandez, Rufus Akinyemi, Sampath Arepalli, Laksh Malik, Raymond Owolabi, Yakub Nyandaiti, Hampton L Leonard, Kolawole Wahab, Oladunni Abiodun, Carlos F Hernandez, Fatima Abdulai, Hirotaka Iwaki, Soraya Bardien, Christine Klein, John Hardy, Henry Houlden, Kamalini Ghosh Galvelis, Mike A Nalls, Nabila Dahodwala, Whitley Aamodt, Emily Hill, Alberto Espay, Stewart Factor, Chantale Branson, Cornelis Blauwendraat, Andrew B Singleton, Oluwadamilola Ojo, Lana M Chahine, Njideka Okubadejo, Sara Bandres-Ciga
Faculty, Staff and Student Publications
Elucidating the genetic contributions to Parkinson's disease aetiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11 827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity in prioritized early onset and familial cases. Our study identified rare GBA1 coding variants to be the most frequent mutations among patients with Parkinson's disease, with a frequency of 4% in our case cohort. Of the 18 …
Parenting Style And Academic Success: How Can You Help Your Child Succeed?, Elizabeth A. Weicker
Parenting Style And Academic Success: How Can You Help Your Child Succeed?, Elizabeth A. Weicker
Caravel Undergraduate Research Journal
The goal of this study was to investigate the relationship between the parenting style a college student experienced during childhood and the student’s most recent college GPA. Using survey data collected from undergraduate students throughout the United States, a between-subjects ANOVA was conducted to comparing different parenting styles and mean GPA for those styles. The parenting styles analyzed were authoritative, authoritarian, and permissive. Results indicated significant differences in GPA between parenting styles, with the authoritative parenting style producing the highest college GPA. In addition, an independent samples t-test was conducted to analyze the relationship between student satisfaction with the parenting …
Predicting Narcissism Through Social Media, Cameryn Freglette, Melanie Palomares
Predicting Narcissism Through Social Media, Cameryn Freglette, Melanie Palomares
Caravel Undergraduate Research Journal
The objective of this study was to assess if narcissism can be predicted through social media behaviors such as frequency of posts, posting selfies, and social media presence on a variety of platforms. This study was conducted through a questionnaire related to social media use and a brief assessment from the Narcissistic Personality Inventory (NPI- 16). Results indicated that social media use per day was significantly different between people who post selfies and those who do not. Participants that scored higher for narcissism used social media less but posted significantly more selfies. Results were not significant in predicting narcissism through …
Syrah: A Pipeline To Maximize Spatial Transcriptomics Data Output, Carolyn Brewster, Frederick G Mann, Blair Benham-Pyle, Alejandro Sánchez Alvarado
Syrah: A Pipeline To Maximize Spatial Transcriptomics Data Output, Carolyn Brewster, Frederick G Mann, Blair Benham-Pyle, Alejandro Sánchez Alvarado
Faculty, Staff and Students Publications
Spatial analysis of gene expression patterns has been a key technique for revealing the potential functions of genes. Traditionally, these analyses conducted using in-situ hybridizations and other labor-intensive protocols were constrained to examining only a few candidate genes per sample. However, the advent of spatial transcriptomic techniques like Slide-seqV2 has transformed this field, enabling massively parallel exploration of gene expression patterns within their tissue contexts by pairing spatial locations with RNA sequencing. Despite its potential, Slide-seqV2 datasets often produce fewer usable reads than expected. We have identified that a significant source of errors in the technology stems from the chemical …
Tractor Workflow: A Scalable Nextflow Framework For Local Ancestry-Aware Genome-Wide Association Studies, Nirav N Shah, Taotao Tan, Jessica Honorato-Mauer, Yi-Sian Lin, Adam X Maihofer, Clement C Zai, Pgc-Ptsd Ancestry Working Group, Marcos Santoro, Caroline M Nievergelt, Elizabeth G Atkinson
Tractor Workflow: A Scalable Nextflow Framework For Local Ancestry-Aware Genome-Wide Association Studies, Nirav N Shah, Taotao Tan, Jessica Honorato-Mauer, Yi-Sian Lin, Adam X Maihofer, Clement C Zai, Pgc-Ptsd Ancestry Working Group, Marcos Santoro, Caroline M Nievergelt, Elizabeth G Atkinson
Faculty, Staff and Students Publications
Motivation: The routine exclusion of admixed individuals from traditional genome-wide association studies (GWAS) due to concerns about spurious associations has limited multi-ancestry genetic discovery. Tractor addresses this issue by incorporating local ancestry into association testing, enabling the identification of ancestry-enriched signals and generating ancestry-specific summary statistics. However, adoption has been constrained by the complexity of prerequisite steps, including phasing and local ancestry inference, which require substantial bioinformatics expertise and introduce key analytical decision points.
Results: We developed a scalable, automated Nextflow workflow that integrates phasing, local ancestry inference, and Tractor association testing into a reproducible end-to-end pipeline. To demonstrate its …
Nuclear Export As A Therapeutic Vulnerability In Zfta-Rela Ependymoma, Siri M Ippagunta, Amir Arabzade, Srinidhi Varadharajan, Erik Emanus, Amanda Bland, Alisha Kardian, Nicholas Laboe, Hua Sun, Tuyu Zheng, Amelia Hancock, Mark Zhai, Emma Caesar, Maxwell Park, Wilda Orisme, Melissa Johnson, Brittany Rodgers, Gregory H Turner, Jeffrey Steinberg, Burgess Freeman, Martine F Roussel, Anang Shelat, Richard Kriwacki, Thomas E Merchant, Benjamin Deneen, Michael D Taylor, Sameer Agnihotri, Shondra Pruett-Miller, Jacob A Steele, Anoop Murthy Kavirayani, David W Ellison, Arzu Onar-Thomas, Giles Robinson, Stephen C Mack, Kelsey C Bertrand
Nuclear Export As A Therapeutic Vulnerability In Zfta-Rela Ependymoma, Siri M Ippagunta, Amir Arabzade, Srinidhi Varadharajan, Erik Emanus, Amanda Bland, Alisha Kardian, Nicholas Laboe, Hua Sun, Tuyu Zheng, Amelia Hancock, Mark Zhai, Emma Caesar, Maxwell Park, Wilda Orisme, Melissa Johnson, Brittany Rodgers, Gregory H Turner, Jeffrey Steinberg, Burgess Freeman, Martine F Roussel, Anang Shelat, Richard Kriwacki, Thomas E Merchant, Benjamin Deneen, Michael D Taylor, Sameer Agnihotri, Shondra Pruett-Miller, Jacob A Steele, Anoop Murthy Kavirayani, David W Ellison, Arzu Onar-Thomas, Giles Robinson, Stephen C Mack, Kelsey C Bertrand
Faculty, Staff and Students Publications
Background: Ependymoma (EPN) is the third most common pediatric brain tumor with no targeted therapies available to patients. In supratentorial ependymoma, the most frequent driver alteration is a gene fusion between ZFTA and RELA (denoted ZR), leads to constitutive localization of ZR in the nucleus. Because ZR is not currently druggable, we tested whether ZR expression leads to aberrant protein interactions that could represent therapeutic vulnerabilities.
Methods: Using CRISPR-Cas9 pooled screening, we identified many novel druggable ZR interacting proteins including XPO1, CARM1, SMARCA4, and CDK1. We focused on the nuclear export protein (XPO1), given the ability of most XPO1 inhibitors …
A High-Throughput Assay For Monitoring And Quantifying Amyloid-Β Accumulation And Clearance In Alzheimer's Disease Cell Models, Ajish Ariyath, Fraulein Denise Arigo, Anna Fyfe, W. M.A.D.Binosha Fernando, Ralph Martins, Prashant Bharadwaj
A High-Throughput Assay For Monitoring And Quantifying Amyloid-Β Accumulation And Clearance In Alzheimer's Disease Cell Models, Ajish Ariyath, Fraulein Denise Arigo, Anna Fyfe, W. M.A.D.Binosha Fernando, Ralph Martins, Prashant Bharadwaj
Research outputs 2022 to 2026
Amyloidogenic proteins, such as amyloid-β (Aβ), self-assemble into cross-β fibrils whose accumulation is central to Alzheimer's disease (AD). Measuring Aβ aggregation and clearance in living cells remains challenging using current cell-based assays, which are often low-throughput or not suited for real-time monitoring. This study aimed to (1) develop a robust, quantitative, and scalable fluorescence-based assay using Amytracker to monitor Aβ accumulation and clearance in an Aβ-producing neuronal cell model, and (2) validate its utility for mechanistic studies and therapeutic screening. We established a plate-based fluorescence assay using Amytracker in MC65 neuronal AD model expressing the Amyloid precursor protein C-terminal fragment …
Circulating Sphingomyelins Correlate With Plasma T-Tau In Cognitively Unimpaired Older Adults At Risk Of Developing Alzheimer's Disease, Tahmida Sharmin, James D. Doecke, Pratishtha Chatterjee, Steve Pedrini, Hamid R. Sohrabi, Nicholas J. Ashton, Henrik Zetterberg, Manohar L. Garg, Kaj Blennow, Ralph N. Martins
Circulating Sphingomyelins Correlate With Plasma T-Tau In Cognitively Unimpaired Older Adults At Risk Of Developing Alzheimer's Disease, Tahmida Sharmin, James D. Doecke, Pratishtha Chatterjee, Steve Pedrini, Hamid R. Sohrabi, Nicholas J. Ashton, Henrik Zetterberg, Manohar L. Garg, Kaj Blennow, Ralph N. Martins
Research outputs 2022 to 2026
Alterations in plasma sphingomyelin (SM) levels have been reported in Alzheimer's disease (AD), pointing to disturbances in lipid metabolism that may contribute to disease pathogenesis. Neuronal damage in early AD triggers tau release into central and peripheral systems. Despite influence from peripheral contributions, alterations in plasma total-tau (T-tau) remain valuable in indicating AD-related neurodegeneration. Investigating relationships between SM metabolism and tau release during preclinical AD may uncover important biochemical processes and support advancing early non-invasive detection and treatment approaches. This cross-sectional study investigated cognitively unimpaired (CU) older adults from the KARVIAH cohort, grouped by cortical amyloid-β (Aβ) status through positron …
Stromal Interaction Molecule (Stim) Proteins In Microglia And The Impact On Store-Operated Calcium Entry (Soce) And Spinal Cord Injury Recovery, Norah G. Hill
College of Arts & Sciences Senior Theses
In spinal cord injury (SCI), worsening functional outcomes are largely because of secondary injury processes and prolonged chronic inflammation. A major contributor of secondary injury is overload of intracellular calcium, causing neuronal overexcitation and persistent inflammatory responses. One of the primary mediators of calcium entry into the cell is store-operated calcium entry (SOCE). In SOCE, sensors detecting calcium depletion from the endoplasmic reticulum stores are called STIM proteins (1-2). When calcium is low in the cell, STIM proteins will activate Orai channels to open, allowing for the influx of calcium into the cell. The purpose of this study was to …
Ai×Life 2026: Advances In Computational Biology Across Scales For Life & Health Sciences, Suma Mohan S., Devika N. T., Pranavathiyani G.
Ai×Life 2026: Advances In Computational Biology Across Scales For Life & Health Sciences, Suma Mohan S., Devika N. T., Pranavathiyani G.
Conference Proceedings
Book of Abstracts of the International Conference, AIxLife 2026: Advances in Computational Biology Across Scales for Life & Health Sciences, held on 17–18 April 2026, SASTRA Deemed to be University, Thanjavur, Tamil Nadu, INDIA
About the Conference
Conventional computational biology laid the foundation for biological data analysis through statistical models, algorithms, and curated databases, enabling insights into genes, proteins, and pathways. Today, the integration of artificial intelligence, spanning machine learning, deep learning, and large language models (LLMs) is driving a transformative shift across biological scales, from atomic and molecular interactions to pathways, cellular systems, organisms, and populations.
AI-powered approaches …
Donor Sex And Platelet Storage Change The Therapeutic Effects Of Platelet-Derived Extracellular Vesicles On Endothelium, Mandeep Kaur, Malvika Gupta, Sowmya Shree Gopal, Charles E Wade, Jessica C Cardenas, Amit K Srivastava
Donor Sex And Platelet Storage Change The Therapeutic Effects Of Platelet-Derived Extracellular Vesicles On Endothelium, Mandeep Kaur, Malvika Gupta, Sowmya Shree Gopal, Charles E Wade, Jessica C Cardenas, Amit K Srivastava
Faculty, Staff and Student Publications
Platelet-derived extracellular vesicles (PEVs) play an active role in vascular protection and repair and are being explored as a viable alternative to platelet therapy. Because platelet function and stability are shaped by donor sex and storage conditions, these same factors are likely to influence the PEVs they release. Understanding these influences is key to developing PEVs into a safe and dependable therapeutic option. In this study, we investigated how donor sex and platelet storage affect the therapeutic properties of PEVs. To address this, PEVs were isolated from platelets of healthy male and female donors. Platelets were either processed immediately after …