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Articles 1 - 29 of 29
Full-Text Articles in Medicine and Health Sciences
Clinical Characteristics And Electrophysiologic Properties Of Scn5a Variants In Fever-Induced Brugada Syndrome, Gan-Xiao Chen, Hector Barajas-Martinez, Giuseppe Ciconte, Cheng-I Wu, Michelle M Monasky, Hao Xia, Bian Li, John A Capra, Kai Guo, Zhong-He Zhang, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Chloe Miu Mak, Yoshiyasu Aizawa, Michael H Gollob, Charles Antzelevitch, Arthur A M Wilde, Carlo Pappone, Dan Hu
Clinical Characteristics And Electrophysiologic Properties Of Scn5a Variants In Fever-Induced Brugada Syndrome, Gan-Xiao Chen, Hector Barajas-Martinez, Giuseppe Ciconte, Cheng-I Wu, Michelle M Monasky, Hao Xia, Bian Li, John A Capra, Kai Guo, Zhong-He Zhang, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Chloe Miu Mak, Yoshiyasu Aizawa, Michael H Gollob, Charles Antzelevitch, Arthur A M Wilde, Carlo Pappone, Dan Hu
Division of Cardiology Faculty Papers
Background: Brugada syndrome (BrS) is a severe inherited arrhythmia syndrome that can be unmasked by fever.
Methods: A multicentre clinical analysis was performed in 261 patients diagnosed with fever-induced BrS, including 198 (75.9%) and 27 (10.3%) patients who received next-generation genetic sequencing and epicardial arrhythmogenic substrate (AS) mapping, respectively.
Findings: In fever-induced BrS patients, pathogenic or likely pathogenic (P/LP) SCN5A variant carriers developed fever-induced BrS at a younger age, and more often in females and those of Caucasian descent. They exhibited significant electrophysical abnormalities, including a larger epicardial AS area, and more prolonged abnormal epicardial electrograms. During a median follow-up …
A Survey Of Speech-Language Pathologists' Academic Preparation In Craniofacial Anomalies, Francesca Myerski
A Survey Of Speech-Language Pathologists' Academic Preparation In Craniofacial Anomalies, Francesca Myerski
Honors Theses
Craniofacial anomalies occur in 1 of 750 newborns a year with the three main types being cleft lip, cleft palate, and cleft lip and/or cleft palate. There are six main factors that affect craniofacial anomalies that are focused on in this research, including genetics, environmental factors, medications, diet, health risks, and surgical procedures/surgeons. The research found that there is a lot of information on craniofacial anomalies and speech-language pathologists need to learn about as much as possible. The lack of knowledge and academic preparations speech-language pathologists have in craniofacial anomalies has decreased their awareness in the birth defect and has …
A Cloning-Free Recyclable System For Crispr-Cas9 Mediated Mutant And Reversion Construction In Candida Albicans Clinical Isolates, Amanda K. Vogel
A Cloning-Free Recyclable System For Crispr-Cas9 Mediated Mutant And Reversion Construction In Candida Albicans Clinical Isolates, Amanda K. Vogel
Theses and Dissertations (ETD)
Candida albicans is a ubiquitous opportunistic fungal pathogen and one of the most prevalent causes of fungal diseases worldwide. The reference isolate SC5314 is one of the most widely used strains for both experimental and genetic studies, but it is becoming increasingly evident that genetic diversity in clinical isolates plays an important role in antifungal resistance, virulence, and pathogenicity. These recent discoveries highlight the need for genetic tools that are capable of investigating genes in multiple strain backgrounds. Here we build on the SAT1-flipper method and combine it with CRISPR-Cas9 technology to achieve cloning-free homozygous deletion in a single transformation …
Genetic Variants Within Noggin, Col1a1, Col5a1, And Igf2 Are Associated With Musculoskeletal Injuries In Elite Male Australian Football League Players: A Preliminary Study, Ysabel Jacob, Ryan S. Anderton, Jodie L. Cochrane Wilkie, Brent Rogalski, Simon M. Laws, Anthony Jones, Tania Spiteri, Dana Hince, Nicolas H. Hart
Genetic Variants Within Noggin, Col1a1, Col5a1, And Igf2 Are Associated With Musculoskeletal Injuries In Elite Male Australian Football League Players: A Preliminary Study, Ysabel Jacob, Ryan S. Anderton, Jodie L. Cochrane Wilkie, Brent Rogalski, Simon M. Laws, Anthony Jones, Tania Spiteri, Dana Hince, Nicolas H. Hart
Research outputs 2022 to 2026
Introduction:
Australian Football is a dynamic team sport that requires many athletic traits to succeed. Due to this combination of traits, as well as technical skill and physicality, there are many types of injuries that could occur. Injuries are not only a hindrance to the individual player, but to the team as a whole. Many strength and conditioning personnel strive to minimise injuries to players to accomplish team success.
Purpose:
To investigate whether selected polymorphisms have an association with injury occurrence in elite male Australian Football players.
Methods:
Using DNA obtained from 46 elite male players, we investigated the associations …
Genetic Correlation And Causality Assessment Between Post-Traumatic Stress Disorder And Coronary Artery Disease-Related Traits, Wole Akosile, Emmanuel Adewuyi
Genetic Correlation And Causality Assessment Between Post-Traumatic Stress Disorder And Coronary Artery Disease-Related Traits, Wole Akosile, Emmanuel Adewuyi
Research outputs 2022 to 2026
Consistent evidence from observational studies supports a risk-increasing association between post-traumatic stress disorder (PTSD) and coronary artery disease (CAD); however, the mechanisms underlying their relationship remain poorly understood. This study assesses the genetic correlation and potential causal relationship between PTSD and CAD-related traits. We analysed genome-wide associated study summary data of PTSD (cases = 23,212, controls = 151,447) with CAD-related traits (sample size up to 408,458 individuals) to achieve our study objectives. Findings revealed a significant and positive genetic correlation between PTSD and CAD (rG = 0.19, p = 3.47 × 10 – 2), and between PTSD and CAD traits …
Shared Brain And Genetic Architectures Between Mental Health And Physical Activity, Wei Zhang, Sarah E. Paul, Anderson M. Winkler, Ryan Bogdan, Janine D. Bijsterbosch
Shared Brain And Genetic Architectures Between Mental Health And Physical Activity, Wei Zhang, Sarah E. Paul, Anderson M. Winkler, Ryan Bogdan, Janine D. Bijsterbosch
School of Medicine Publications and Presentations
Physical activity is correlated with, and effectively treats various forms of psychopathology. However, whether biological correlates of physical activity and psychopathology are shared remains unclear. Here, we examined the extent to which the neural and genetic architecture of physical activity and mental health are shared. Using data from the UK Biobank (N = 6389), we applied canonical correlation analysis to estimate associations between the amplitude and connectivity strength of subnetworks of three major neurocognitive networks (default mode, DMN; salience, SN; central executive networks, CEN) with accelerometer-derived measures of physical activity and self-reported mental health measures (primarily of depression, anxiety …
The Effects Of Cyp1a2 And Adora2a Genotypes Association With Acute Caffeine Intake On Physiological Effects And Performance: A Systematic Review, Rabia Rümeysa Kocatürk, İlke Karagöz, Ebru Yanik, Öznur Özge Özcan, Türker Tekin Ergüzel, Mesut Karahan, Nevzat Tarhan
The Effects Of Cyp1a2 And Adora2a Genotypes Association With Acute Caffeine Intake On Physiological Effects And Performance: A Systematic Review, Rabia Rümeysa Kocatürk, İlke Karagöz, Ebru Yanik, Öznur Özge Özcan, Türker Tekin Ergüzel, Mesut Karahan, Nevzat Tarhan
Baltic Journal of Health and Physical Activity
Introduction: This systematic review aims to examine the effects of the CYP1A2 −163C>A and ADORA2A 1976T>C polymorphism on physiological effects and performance relative to caffeine consumption. Material and Methods: In this study, electronic databases including PubMed, Web of Science Core Collection, Korean Journal Database, Russian Science Citation Index, SciELO Citation Index, Scopus, ScienceDirect, ProQuest Dissertations & Thesis Global and EBSCO were searched. Results: The results highlight that individuals with the TT or CT/CC genotype can have differences in caffeine consumption, and C carriers may have increases in the maximum oxygen uptake (VO2max). The AA or AC/CC …
The Genetic Contribution To Solving The Cocktail-Party Problem, Samuel R. Mathias, Emma Knowles, Josephine Mollon, Amanda Rodrigue, Mary K. Woolsey, Rene L. Olvera, Juan M. Peralta, Satish Kumar, Harald H. H. Goring, Ravi Duggirala, Joanne E. Curran, John Blangero, David C. Glahn
The Genetic Contribution To Solving The Cocktail-Party Problem, Samuel R. Mathias, Emma Knowles, Josephine Mollon, Amanda Rodrigue, Mary K. Woolsey, Rene L. Olvera, Juan M. Peralta, Satish Kumar, Harald H. H. Goring, Ravi Duggirala, Joanne E. Curran, John Blangero, David C. Glahn
School of Medicine Publications and Presentations
Communicating in everyday situations requires solving the cocktail-party problem, or segregating the acoustic mixture into its constituent sounds and attending to those of most interest. Humans show dramatic variation in this ability, leading some to experience real-world problems irrespective of whether they meet criteria for clinical hearing loss. Here, we estimated the genetic contribution to cocktail-party listening by measuring speech-reception thresholds (SRTs) in 425 people from large families and ranging in age from 18 to 91 years. Roughly half the variance of SRTs was explained by genes (h 2 = 0.567). The genetic correlation between SRTs and hearing thresholds …
The Molecular Landscape Of Early-Stage Breast Cancer With Lymph Node Metastasis, Farhad Ghasemi
The Molecular Landscape Of Early-Stage Breast Cancer With Lymph Node Metastasis, Farhad Ghasemi
Electronic Thesis and Dissertation Repository
Axillary lymph nodes (ALNs) are the primary site of metastasis in breast cancer, and their involvement has implications in disease staging, prognostication, and treatment decisions. A non-invasive modality of assessing the risk of ALN metastasis can improve care in patients with early-stage breast cancer by omitting the morbidity and costs associated with axillary surgery.
This thesis explores the molecular landscape of early-stage breast cancers with ALN metastasis and shows the potential of tumour molecular signatures in predicting ALN involvement. After a systematic review of the literature, we use data from The Cancer Genome Atlas (TCGA) to develop molecular signatures correlated …
Genetics And Genomics Education Among Physician Assistants, Wesley Patterson
Genetics And Genomics Education Among Physician Assistants, Wesley Patterson
All Dissertations
This dissertation comprises five chapters to describe genetics and genomics education among physician assistant/associate (PA) students and practicing PAs. Chapter I introduces the gap in supply and demand of genetic services, the need for non-genetics healthcare providers to fill the gap, and the PA profession as a solution.
Chapter II is a rapid literature review that summarizes the available literature regarding genetics and genomics education for PAs. A paucity of literature exists to describe the current state of PA genetics-genomics education. The few studies retrieved describe content being taught in PA programs, the number of genetics-genomics contact hours PA students …
Strategic Plan For Genomic Competencies Into Undergraduate Nursing Curriculum, Myerann Royce M. Mangalino
Strategic Plan For Genomic Competencies Into Undergraduate Nursing Curriculum, Myerann Royce M. Mangalino
UNLV Theses, Dissertations, Professional Papers, and Capstones
Problem: As genomics research continues to grow in medicine and in popular culture, an educational gap in nursing is inevitable. Nurses must have a strong understanding of genetics and genomics to effectively integrate them into current practice.Objectives: The objective is to identify gaps in the current undergraduate curriculum and build threads that may be incorporated into the current curriculum to fill the identified gaps. Methods: The foundation of this project was the Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2nd Edition (Consensus Panel on Genetic/Genomic Nursing Competencies, 2008). A strategic plan was created to increase …
The Effects Of Physical Function And Genetics On Cognition And Blood Biomarkers In Individuals At-Risk For Alzheimer’S Disease And Related Dementias, Joshua Louis Gills
The Effects Of Physical Function And Genetics On Cognition And Blood Biomarkers In Individuals At-Risk For Alzheimer’S Disease And Related Dementias, Joshua Louis Gills
Graduate Theses and Dissertations
Alzheimer’s disease and related dementia (ADRD) rates are expected to triple by the year 2050. Early detection and specific mitigation efforts are warranted to blunt the alarming rate. Physical function (PF) declines with age, but higher physical function is associated with better cognitive functioning in middle-to- older age individuals. Moreover, greater physical activity (PA) is associated with better global cognition; however, Apoliporotein e4 carriers may not gain the same benefits with exercise. Additionally, plasma phosphorylated tau 217 (p-tau217) has been identified as a novel diagnostic ADRD biomarker which needs further research to examine associations with risk factors. Therefore, the aims …
Sex Differences In The Genetic Architecture Of Cognitive Resilience To Alzheimer’S Disease, Jaclyn M. Eissman, Logan Dumitrescu, Emily R. Mahoney, Alexandra N. Smith, Shubhabrata Mukherjee, Michael L. Lee, Phoebe Scollard, Seo Eun Choi, William S. Bush, Corinne D. Engelman, Qiongshi Lu, David W. Fardo, Emily H. Trittschuh, Jesse Mez, Catherine C. Kaczorowski, Hector Hernandez Saucedo, Keith F. Widaman, Rachel F. Buckley, Michael J. Properzi, Elizabeth C. Mormino, Hyun Sik Yang, Theresa M. Harrison, Trey Hedden, Kwangsik Nho, Shea J. Andrews, Douglas Tommet, Niran Hadad, R. Elizabeth Sanders, Douglas M. Ruderfer, Katherine A. Gifford, Xiaoyuan Zhong, Neha S. Raghavan, Badri Vardarajan, Margaret A. Pericak-Vance, Lindsay A. Farrer, Li San Wang, Carlos Cruchaga, Gerard D. Schellenberg, Nancy J. Cox, Jonathan L. Haines, C. Dirk Keene, Andrew J. Saykin, Eric B. Larson, Reisa A. Sperling, Richard Mayeux, Michael L. Cuccaro, David A. Bennett, Julie A. Schneider, Paul K. Crane, Angela L. Jefferson, Timothy J. Hohman
Sex Differences In The Genetic Architecture Of Cognitive Resilience To Alzheimer’S Disease, Jaclyn M. Eissman, Logan Dumitrescu, Emily R. Mahoney, Alexandra N. Smith, Shubhabrata Mukherjee, Michael L. Lee, Phoebe Scollard, Seo Eun Choi, William S. Bush, Corinne D. Engelman, Qiongshi Lu, David W. Fardo, Emily H. Trittschuh, Jesse Mez, Catherine C. Kaczorowski, Hector Hernandez Saucedo, Keith F. Widaman, Rachel F. Buckley, Michael J. Properzi, Elizabeth C. Mormino, Hyun Sik Yang, Theresa M. Harrison, Trey Hedden, Kwangsik Nho, Shea J. Andrews, Douglas Tommet, Niran Hadad, R. Elizabeth Sanders, Douglas M. Ruderfer, Katherine A. Gifford, Xiaoyuan Zhong, Neha S. Raghavan, Badri Vardarajan, Margaret A. Pericak-Vance, Lindsay A. Farrer, Li San Wang, Carlos Cruchaga, Gerard D. Schellenberg, Nancy J. Cox, Jonathan L. Haines, C. Dirk Keene, Andrew J. Saykin, Eric B. Larson, Reisa A. Sperling, Richard Mayeux, Michael L. Cuccaro, David A. Bennett, Julie A. Schneider, Paul K. Crane, Angela L. Jefferson, Timothy J. Hohman
Sanders-Brown Center on Aging Faculty Publications
Approximately 30% of elderly adults are cognitively unimpaired at time of death despite the presence of Alzheimer's disease neuropathology at autopsy. Studying individuals who are resilient to the cognitive consequences of Alzheimer's disease neuropathology may uncover novel therapeutic targets to treat Alzheimer's disease. It is well established that there are sex differences in response to Alzheimer's disease pathology, and growing evidence suggests that genetic factors may contribute to these differences. Taken together, we sought to elucidate sex-specific genetic drivers of resilience.
We extended our recent large scale genomic analysis of resilience in which we harmonized cognitive data across four cohorts …
Teaching Central Dogma Of Biology Using Cell Free Environment, Lukas Nelson, Sudeshna Roy, Bobbi J. Bohnet, Tracy Chase, Brian Labelle, Nicholas Butzin, Madhav P. Nepal
Teaching Central Dogma Of Biology Using Cell Free Environment, Lukas Nelson, Sudeshna Roy, Bobbi J. Bohnet, Tracy Chase, Brian Labelle, Nicholas Butzin, Madhav P. Nepal
iLEARN Teaching Resources
In this lesson plan, students will learn and visualize how genetic information coded in DNA is transcribed into RNA which is further translated into protein. This entire process, DNA->RNA-> Protein, is known as the Central Dogma of Molecular Biology. This hands-on module is designed for 9th through 12th grade students. To adjust the difficulty level of the modules, some aspects can be modified or removed based on the grade. This module includes an instructional slide show, video tutorial, assessment options, and links to additional resources.
Genomic Tools Reveal Complex Social Organization Of An Invasive Large Mammal (Sus Scrofa), Chelsea L. Titus, Courtney F. Bowden, Timothy J. Smyser, Stephen L. Webb, James C. Beasley
Genomic Tools Reveal Complex Social Organization Of An Invasive Large Mammal (Sus Scrofa), Chelsea L. Titus, Courtney F. Bowden, Timothy J. Smyser, Stephen L. Webb, James C. Beasley
United States Department of Agriculture Wildlife Services: Staff Publications
A comprehensive understanding of sociality in wildlife is vital to optimizing conservation and management efforts. However, sociality is complicated, especially for widely distributed species that exhibit substantive behavioral plasticity. Invasive wild pigs (Sus scrofa), often representing hybrids of European wild boar and domestic pigs, are among the most adaptable and widely distributed large mammals. The social structure of wild pigs is believed to be similar to European wild boar, consisting of matriarchal groups (sounders) and solitary males. However, wild pig social structure is understudied and largely limited to visual observations. Using a hierarchical approach, we incorporated genomic tools …
The Genetic Link To Postpartum Depression, Kelsey Krueger
The Genetic Link To Postpartum Depression, Kelsey Krueger
Physician Assistant Scholarly Project Papers
Postpartum depression affects an estimated 12% of women following delivery and it is believed that 50% of those women will go undiagnosed. It is well accepted in the scientific community that genetics play a role in the development of many mental health disorders. Recent research has demonstrated that this may also be the case with postpartum depression. There is a 50% incidence rate among women who have a first-degree relative diagnosed with postpartum depression (Guintivano et al., 2018). A literature review was conducted focusing on the research of epigenetics within the last five years, specifically investigating DNA methylation and single …
Epigenetics As Primary Prevention Of Coronary Artery Disease, David Majewski
Epigenetics As Primary Prevention Of Coronary Artery Disease, David Majewski
Physician Assistant Scholarly Project Papers
This systematic literature review intended to ascertain if epigenetic testing for the primary prevention of Coronary Artery Disease (CAD) decreases mortality compared to the current standard of care. This systemic review used PubMed and Cochrane medical databases to assess epigenetic variances and their association with CAD. The Medical Subject Headings (MeSH) terms used were as follows: CAD, genetics, epigenomics, diabetes, hypertension, obesity, dyslipidemia, primary prevention, and standard of care. Further limiting the search results to Randomized Control Trials (RCT’s), meta-analysis, peer-reviewed, and published within the last 10 years. Exclusion criteria included publications before 2011, articles that did not compare genetic …
Enpp1 Variants In Patients With Gaci And Pxe Expand The Clinical And Genetic Heterogeneity Of Heritable Disorders Of Ectopic Calcification., Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li
Enpp1 Variants In Patients With Gaci And Pxe Expand The Clinical And Genetic Heterogeneity Of Heritable Disorders Of Ectopic Calcification., Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li
Department of Medicine Faculty Papers
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent endogenous inhibitor of calcification. Variants in ENPP1, the gene mutated in GACI, have not been associated with classic PXE. Here we report the clinical, laboratory, and molecular evaluations of ten GACI and two PXE patients from five and two unrelated families registered in GACI Global and PXE International databases, respectively. All patients were found to carry biallelic variants in ENPP1. Among ten ENPP1 variants, one homozygous variant demonstrated uniparental disomy …
Identification Of Dna Methylation Episignatures For Classification And Phenotype/Genotype Correlation In Mendelian Neurodevelopmental Disorders, John Reilly
Electronic Thesis and Dissertation Repository
ABSTRACT: Diagnosis for neurodevelopmental disorders poses numerous challenges, related to the lack of specific findings and limited understanding of clinical impact of the majority of genetic variation. Epigenomics mechanisms involve chemical modifications in DNA that involve a range of cellular mechanisms. DNA methylation is an epigenetic mechanism involving addition and removal of methyl groups to cytosine residues. These methylation signals form episignatures; patterns of methylation that can be used as biomarkers capable of differentiating neurodevelopmental disorders. EpiSigns have enabled molecular diagnosis of a number of genetic conditions, classification of variants of unknown significance, and provided insights into the pathophysiology of …
The Low Abundance Of Cpg In The Sars-Cov-2 Genome Is Not An Evolutionarily Signature Of Zap, Ali Afrasiabi, Hamid Alinejad-Rokny, Azad Khosh, Mostafa Rahnama, Nigel Lovell, Zhenming Xu, Diako Ebrahimi
The Low Abundance Of Cpg In The Sars-Cov-2 Genome Is Not An Evolutionarily Signature Of Zap, Ali Afrasiabi, Hamid Alinejad-Rokny, Azad Khosh, Mostafa Rahnama, Nigel Lovell, Zhenming Xu, Diako Ebrahimi
Plant Pathology Faculty Publications
The zinc finger antiviral protein (ZAP) is known to restrict viral replication by binding to the CpG rich regions of viral RNA, and subsequently inducing viral RNA degradation. This enzyme has recently been shown to be capable of restricting SARS-CoV-2. These data have led to the hypothesis that the low abundance of CpG in the SARS-CoV-2 genome is due to an evolutionary pressure exerted by the host ZAP. To investigate this hypothesis, we performed a detailed analysis of many coronavirus sequences and ZAP RNA binding preference data. Our analyses showed neither evidence for an evolutionary pressure acting specifically on CpG …
The Genetics Of Pain: An Exploration Of Gene-By-Environment Interactions And Their Effects On Pain, Mohamad F. Fakhereddin
The Genetics Of Pain: An Exploration Of Gene-By-Environment Interactions And Their Effects On Pain, Mohamad F. Fakhereddin
Electronic Thesis and Dissertation Repository
The findings presented in this dissertation are part of the bigger SYMBIOME project which aims to use the biopsychosocial model of pain to develop a prognostic clinical phenotype for people that experience musculoskeletal (MSK) trauma. Chapter 2 presents an exploratory analysis to assess the relationships between genetic polymorphisms and pain severity and interference. Early childhood trauma was also explored as a moderator between genetic polymorphisms and pain outcomes. For pain severity, major allele carriers (A/A and G/A) of FKBP5 rs9394314 reported significantly higher scores than minor allele carriers (G/G). Further, major allele carriers who had at least one adverse childhood …
Pulmonary Function And Blood Dna Methylation: A Multiancestry Epigenome-Wide Association Meta-Analysis, Mikyeong Lee, Tianxiao Huan, Daniel L. Mccartney, Geetha Chittoor, Maaike De Vries, Lies Lahousse, Jennifer N. Nguyen, Jennifer A. Brody, Juan Castillo-Fernandez, Natalie Terzikhan, Cancan Qi, Roby Joehanes, Josine L. Min, Gordon J. Smilnak, Jessica R. Shaw, Chen Xi Yang, Elena Colicino, Thanh T. Hoang, Mairead L. Bermingham, Hanfei Xu, Anne E. Justice, Cheng-Jian Xu, Stephen S. Rich, Simon R. Cox, Judith M. Vonk, Ivana Prokić, Nona Sotoodehnia, Pei-Chien Tsai, Joel D. Schwartz, Janice M. Leung, Sinjini Sikdar, Rosie M. Walker, Sarah E. Harris, Diana A. Van Der Plaat, David J. Van Den Berg, Traci M. Bartz, Tim D. Spector, Pantel S. Vokonas, Riccardo E. Marioni, Adele M. Taylor, Yongmei Liu, R. Graham Barr, Leslie A. Lange, Andrea A. Baccarelli, Ma'en Obeidat, Myriam Fornage, Tianyuan Wang, James M. Ward, Alison A. Motsinger-Reif, Gibran Hemani, Gerard H. Koppelman, Jordana T. Bell, Sina A. Gharib, Guy Brusselle, H. Marike Boezen, Kari E. North, Daniel Levy, Kathryn L. Evans, Josée Dupris, Charles E. Breeze, Ani Manichaikul, Stephanie J. London
Pulmonary Function And Blood Dna Methylation: A Multiancestry Epigenome-Wide Association Meta-Analysis, Mikyeong Lee, Tianxiao Huan, Daniel L. Mccartney, Geetha Chittoor, Maaike De Vries, Lies Lahousse, Jennifer N. Nguyen, Jennifer A. Brody, Juan Castillo-Fernandez, Natalie Terzikhan, Cancan Qi, Roby Joehanes, Josine L. Min, Gordon J. Smilnak, Jessica R. Shaw, Chen Xi Yang, Elena Colicino, Thanh T. Hoang, Mairead L. Bermingham, Hanfei Xu, Anne E. Justice, Cheng-Jian Xu, Stephen S. Rich, Simon R. Cox, Judith M. Vonk, Ivana Prokić, Nona Sotoodehnia, Pei-Chien Tsai, Joel D. Schwartz, Janice M. Leung, Sinjini Sikdar, Rosie M. Walker, Sarah E. Harris, Diana A. Van Der Plaat, David J. Van Den Berg, Traci M. Bartz, Tim D. Spector, Pantel S. Vokonas, Riccardo E. Marioni, Adele M. Taylor, Yongmei Liu, R. Graham Barr, Leslie A. Lange, Andrea A. Baccarelli, Ma'en Obeidat, Myriam Fornage, Tianyuan Wang, James M. Ward, Alison A. Motsinger-Reif, Gibran Hemani, Gerard H. Koppelman, Jordana T. Bell, Sina A. Gharib, Guy Brusselle, H. Marike Boezen, Kari E. North, Daniel Levy, Kathryn L. Evans, Josée Dupris, Charles E. Breeze, Ani Manichaikul, Stephanie J. London
Mathematics & Statistics Faculty Publications
Rationale: Methylation integrates factors present at birth and modifiable across the lifespan that can influence pulmonary function. Studies are limited in scope and replication.
Objectives: To conduct large-scale epigenome-wide meta-analyses of blood DNA methylation and pulmonary function.
Methods: Twelve cohorts analyzed associations of methylation at cytosine-phosphate-guanine probes (CpGs), using Illumina 450K or EPIC/850K arrays, with FEV1, FVC, and FEV1/FVC. We performed multiancestry epigenome-wide meta-analyses (total of 17,503 individuals; 14,761 European, 2,549 African, and 193 Hispanic/Latino ancestries) and interpreted results using integrative epigenomics.
Measurements and Main Results: We identified 1,267 CpGs (1,042 genes) differentially methylated (false discovery …
Detailing The Genetic And Environmental Influences Shared Between Conventional And Electronic Cigarette Use Across Measures Of Initiation And Past 12-Month Use, James Clifford
Theses and Dissertations
Introduction. Tobacco use is a public health crisis with nearly 500,000 Americans suffering premature mortality attributable to tobacco use in 2014. New development efforts have created new nicotine delivery systems whose health consequences are not yet fully understood such as electronic cigarettes (ECIG). It is possible there are shared genetic and environmental factors that influence an individual’s liability to initiate cigarette (CIG) or ECIG use, as both systems are designed to deliver nicotine.
Methods. Four study designs were used to resolve the genetic and environmental influences that underlie CIG and ECIG initiation. A twin study, scoping review, genome-wide association study …
Examination Of Common And Rare Variant Genetic Architecture Of Psychiatric Disorders, Mohammad Ahangari
Examination Of Common And Rare Variant Genetic Architecture Of Psychiatric Disorders, Mohammad Ahangari
Theses and Dissertations
Psychiatric disorders are often heterogenous in their manifestation and genome-wide association studies have identified many common risk variants involved in their polygenic architectures with varying degrees of pleiotropy. In recent years, large-scale biobanks have also begun sequencing the genome of their participants to elucidate the role of rare risk variation in the genetic architecture of complex phenotypes, including psychiatric traits. This dissertation sought to better understand the role of both common and rare risk variation in the genetic architecture of psychiatric disorders with a particular focus on schizophrenia and alcohol problems. In the first three analyses, we focused on characterizing …
Identification Of A Rickettsial Endosymbiont In A Soft Tick Ornithodoros Turicata Americanus, Lichao Liu, Daniel E. Sonenshine, Hameeda Sultana, Girish Neelakanta
Identification Of A Rickettsial Endosymbiont In A Soft Tick Ornithodoros Turicata Americanus, Lichao Liu, Daniel E. Sonenshine, Hameeda Sultana, Girish Neelakanta
Biological Sciences Faculty Publications
Bacterial endosymbionts are abundantly found in both hard and soft ticks. Occidentia massiliensis, a rickettsial endosymbiont, was first identified in the soft tick Ornithodoros sonrai collected from Senegal and later was identified in a hard tick Africaniella transversale. In this study, we noted the presence of Occidentia species, designated as Occidentia-like species, in a soft tick O. turicata americanus. Sequencing and phylogenetic analyses of the two genetic markers, 16S rRNA and groEL confirmed the presence of Occidentia-like species in O. turicata americanus ticks. The Occidentia-like species was noted to be present in all developmental stages …
Psychological Outcomes In Advanced Cancer Patients After Receiving Genomic Tumor Profiling Results, Sabina Vatter, Timothy E. Schlub, Christine E. Napier, Megan C. Best, Nicci Bartley, Ilona Juraskova, Bettina Meiser, Mandy L. Ballinger, Barbara B. Biesecker, David Goldstein, David M. Thomas, Phyllis Butow, Members Of The Pigeon Project
Psychological Outcomes In Advanced Cancer Patients After Receiving Genomic Tumor Profiling Results, Sabina Vatter, Timothy E. Schlub, Christine E. Napier, Megan C. Best, Nicci Bartley, Ilona Juraskova, Bettina Meiser, Mandy L. Ballinger, Barbara B. Biesecker, David Goldstein, David M. Thomas, Phyllis Butow, Members Of The Pigeon Project
IES Papers and Journal Articles
Background: Comprehensive tumor genomic profiling (CGP) offers hope for personalized treatment for cancer patients when other treatment options have been exhausted. However, receipt of nonactionable or ambiguous results could be an ongoing source of distress. We investigated patterns of hope, anxiety, depression, and CGP-specific anxiety in advanced cancer patients after receiving CGP results and 2–3months later.
Method: Participants were enrolled in a longitudinal psychosocial substudy, embedded in the Molecular Screening and Therapeutics Program, and had advanced solid cancers of any histological type with sufficient and accessible tissue for CGP. At T0 (before receiving CGP results), 1,431 participants completed sociodemographic, disease …
Plasmonic-Based Biosensor For The Early Diagnosis Of Prostate Cancer, Thakshila Liyanage, Bayan Alharbi, Linh Quan, Aurora Esquela-Kerscher, Gymama Slaughter
Plasmonic-Based Biosensor For The Early Diagnosis Of Prostate Cancer, Thakshila Liyanage, Bayan Alharbi, Linh Quan, Aurora Esquela-Kerscher, Gymama Slaughter
Bioelectrics Publications
A tapered optical fiber (TOF) plasmonic biosensor was fabricated and used for the sensitive detection of a panel of microRNAs (miRNAs) in human serum obtained from noncancer and prostate cancer (PCa) patients. Oncogenic and tumor suppressor miRNAs let7a, let-7c, miR-200b, miR-141, and miR-21 were tested as predictive cancer biomarkers since multianalyte detection minimizes false-positive and false-negative rates and establishes a strong foundation for early PCa diagnosis. The biosensing platform integrates metallic gold triangular nanoprisms (AuTNPs) laminated on the TOF to excite surface plasmon waves in the supporting metallic layer and enhance the evanescent mode of the fiber surface. …
Enigma-Anxiety Working Group: Rationale For And Organization Of Large-Scale Neuroimaging Studies Of Anxiety Disorders, Janna Marie Bas-Hoogendam, Nynke A. Groenewold, Moji Aghajani, Gabrielle F. Freitag, Anita Harrewijn, Kevin Hilbert, Neda Jahanshad, Sophia I. Thomopoulos, Paul M. Thompson, Anderson M. Winkler
Enigma-Anxiety Working Group: Rationale For And Organization Of Large-Scale Neuroimaging Studies Of Anxiety Disorders, Janna Marie Bas-Hoogendam, Nynke A. Groenewold, Moji Aghajani, Gabrielle F. Freitag, Anita Harrewijn, Kevin Hilbert, Neda Jahanshad, Sophia I. Thomopoulos, Paul M. Thompson, Anderson M. Winkler
School of Medicine Publications and Presentations
Anxiety disorders are highly prevalent and disabling but seem particularly tractable to investigation with translational neuroscience methodologies. Neuroimaging has informed our understanding of the neurobiology of anxiety disorders, but research has been limited by small sample sizes and low statistical power, as well as heterogenous imaging methodology. The ENIGMA-Anxiety Working Group has brought together researchers from around the world, in a harmonized and coordinated effort to address these challenges and generate more robust and reproducible findings. This paper elaborates on the concepts and methods informing the work of the working group to date, and describes the initial approach of the …
The Enhancing Neuroimaging Genetics Through Meta-Analysis Consortium: 10 Years Of Global Collaborations In Human Brain Mapping, Paul M. Thompson, Neda Jahanshad, Lianne Schmaal, Jessica A. Turner, Anderson M. Winkler, Sophia I. Thomopoulos, Gary F. Egan, Peter Kochunov
The Enhancing Neuroimaging Genetics Through Meta-Analysis Consortium: 10 Years Of Global Collaborations In Human Brain Mapping, Paul M. Thompson, Neda Jahanshad, Lianne Schmaal, Jessica A. Turner, Anderson M. Winkler, Sophia I. Thomopoulos, Gary F. Egan, Peter Kochunov
School of Medicine Publications and Presentations
This Special Issue of Human Brain Mapping is dedicated to a 10-year anniversary of the Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium. It reports updates from a broad range of international neuroimaging projects that pool data from around the world to answer fundamental questions in neuroscience. Since ENIGMA was formed in December 2009, the initiative grew into a worldwide effort with over 2,000 participating scientists from 45 countries, and over 50 working groups leading large-scale studies of human brain disorders. Over the last decade, many lessons were learned on how best to pool brain data from diverse sources. Working groups …