Medicine and Health Sciences Commons^™

Als Mutant Sod1 Interacts With G3bp1 And Affects Stress Granule Dynamics, Jozsef Gal, Lisha Kuang, Kelly R. Barnett, Brian Z. Zhu, Susannah C. Shissler, Konstantin V. Korotkov, Lawrence J. Hayward, Edward J. Kasarskis, Haining Zhu

Molecular and Cellular Biochemistry Faculty Publications

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Mutations in Cu/Zn superoxide dismutase (SOD1) are responsible for approximately 20 % of the familial ALS cases. ALS-causing SOD1 mutants display a gain-of-toxicity phenotype, but the nature of this toxicity is still not fully understood. The Ras GTPase-activating protein-binding protein G3BP1 plays a critical role in stress granule dynamics. Alterations in the dynamics of stress granules have been reported in several other forms of ALS unrelated to SOD1. To our surprise, the mutant G93A SOD1 transgenic mice exhibited pathological cytoplasmic inclusions that co-localized with G3BP1-positive granules in spinal cord motor neurons. …

Diabetes Is Associated With Cerebrovascular But Not Alzheimer's Disease Neuropathology, Erin L. Abner, Peter T. Nelson, Richard J. Kryscio, Frederick A. Schmitt, David W. Fardo, Randall L. Woltjer, Nigel J. Cairns, Lei Yu, Hiroko H. Dodge, Chengjie Xiong, Kamal Masaki, Suzanne L. Tyas, David A. Bennett, Julie A. Schneider, Zoe Arvanitakis

Sanders-Brown Center on Aging Faculty Publications

INTRODUCTION: The relationship of diabetes to specific neuropathologic causes of dementia is incompletely understood.

METHODS: We used logistic regression to evaluate the association between diabetes and infarcts, Braak neurofibrillary tangle stage, and neuritic plaque score in 2365 autopsied persons. In a subset of >1300 persons with available cognitive data, we examined the association between diabetes and cognition using Poisson regression.

RESULTS: Diabetes increased odds of brain infarcts (odds ratio [OR] = 1.57, P < .0001), specifically lacunes (OR = 1.71, P < .0001), but not Alzheimer's disease neuropathology. Diabetes plus infarcts was associated with lower cognitive scores at end of life than infarcts or diabetes alone, and diabetes plus high level of Alzheimer's neuropathologic changes was associated with lower mini-mental state examination scores than the pathology alone.

DISCUSSION: This study supports the conclusions that diabetes increases the risk of cerebrovascular but not Alzheimer's disease pathology, and at least some of diabetes' relationship to …

Samarium-153-Edtmp (Quadramet®) With Or Without Vaccine In Metastatic Castration-Resistant Prostate Cancer: A Randomized Phase 2 Trial, Christopher R. Heery, Ravi A. Madan, Mark N. Stein, Walter M. Stadler, Robert S. Dipaola, Myrna Rauckhorst, Seth M. Steinberg, Jennifer L. Marté, Clara C. Chen, Italia Grenga, Renee N. Donahue, Caroline Jochems, William L. Dahut, Jeffrey Schlom, James L. Gulley

Internal Medicine Faculty Publications

PSA-TRICOM is a therapeutic vaccine in late stage clinical testing in metastatic castration-resistant prostate cancer (mCRPC). Samarium-153-ethylene diamine tetramethylene phosphonate (Sm-153-EDTMP; Quadramet^®), a radiopharmaceutical, binds osteoblastic bone lesions and emits beta particles causing local tumor cell destruction. Preclinically, Sm-153-EDTMP alters tumor cell phenotype facilitating immune-mediated killing. This phase 2 multi-center trial randomized patients to Sm-153-EDTMP alone or with PSA-TRICOM vaccine. Eligibility required mCRPC, bone metastases, prior docetaxel and no visceral disease. The primary endpoint was the proportion of patients without radiographic disease progression at 4 months. Secondary endpoints included progression-free survival (PFS), overall survival (OS), and immune responses. …

Impact Of Lung Function On Exacerbations, Health Care Utilization, And Costs Among Patients With Copd, Xuehua Ke, Jessica Marvel, Tzy-Chyi Yu, Debra Wertz, Caroline Geremakis, Liya Wang, Judith J. Stephenson, David M. Mannino

Preventive Medicine and Environmental Health Faculty Publications

Objective: To evaluate the impact of lung function, measured as forced expiratory volume in 1 second (FEV₁) % predicted, on health care resource utilization and costs among patients with COPD in a real-world US managed-care population.

Methods: This observational retrospective cohort study utilized administrative claim data augmented with medical record data. The study population consisted of patients with one or more medical claims for pre- and postbronchodilator spirometry during the intake period (July 1, 2012 to June 30, 2013). The index date was the date of the earliest medical claim for pre- and postbronchodilator spirometry. Spirometry results were …

Mir-27a And Mir-27b Regulate Autophagic Clearance Of Damaged Mitochondria By Targeting Pten-Induced Putative Kinase 1 (Pink1), Jaekwang Kim, Fabienne C. Fiesel, Krystal C. Belmonte, Roman Hudec, Wang-Xia Wang, Chaeyoung Kim, Peter T. Nelson, Wolfdieter Springer, Jungsu Kim

Pathology and Laboratory Medicine Faculty Publications

Background: Loss-of-function mutations in PINK1 and PARKIN are the most common causes of autosomal recessive Parkinson’s disease (PD). PINK1 is a mitochondrial serine/threonine kinase that plays a critical role in mitophagy, a selective autophagic clearance of damaged mitochondria. Accumulating evidence suggests mitochondrial dysfunction is one of central mechanisms underlying PD pathogenesis. Therefore, identifying regulatory mechanisms of PINK1 expression may provide novel therapeutic opportunities for PD. Although post-translational stabilization of PINK1 upon mitochondrial damage has been extensively studied, little is known about the regulation mechanism of PINK1 at the transcriptional or translational levels.

Results: Here, we demonstrated that microRNA-27a (miR-27a) and …

Student Perception Of The Impact Of Audience Response Software In A Team-Based Learning Self-Care Course, Clark Kebodeaux, Leslie Woodyard, Golden Peters, Patrick Finnegan

Pharmacy Practice and Science Presentations

Objectives: Evidence evaluating audience response systems (ARS) used in team-based learning (TBL) compared to traditional classes is limited. The objectives of this study are to evaluate student perceptions of the technology and compare students’ assessment of technology with their performance.

Method: TBL was implemented in the required self-care course (PP2120: Introduction to Pharmaceutical Care: Non-prescription drugs) at St. Louis College of Pharmacy, and an audience response system was implemented in Fall 2015. At the conclusion of the course, a web-based survey was administered to students.

Results: Of the 29 students who successfully completed the course, 23 (79%) completed the survey. …

Implementation Of Community Pharmacy Dispensing Software (Mydispense) In An Advanced Pharmacy Practice Course, Clark Kebodeaux, Keith Sewell

Pharmacy Practice and Science Presentations

Objectives: MyDispense is an interactive community pharmacy simulation program designed to build students’ confidence related to community pharmacy practice. MyDispense was implemented in the Advanced Pharmacy Practice course at St. Louis College of Pharmacy during the P3 year as an activity and assessment for competency in the community pharmacy setting. In order to make future curriculum improvements, the objective of this study is to evaluate the usefulness and applicability of the MyDispense program into a required course.

Method: The study will consist of an anonymous online survey available to students in the Advanced Pharmacy Practice course for two weeks following …

National Health Security Preparedness Index Joint Workgroup Meeting On Model Design And Analytic Methodology, Glen P. Mays

Health Management and Policy Presentations

This workgroup meeting of the National Health Security Preparedness Index reviews results from the 2016 release of the Index and examines opportunities for enhancing the Index measures and analytic methodologies for subsequent releases.

Update On Schizophrenia And Bipolar Disorder: Focus On Cariprazine, Rona Jeannie Roberts, Lillian Jan Findlay, Peggy El-Mallakh, Rif S. El-Mallakh

Nursing Faculty Publications

Schizophrenia and bipolar disorder are severe psychiatric disorders that are frequently associated with persistent symptoms and significant dysfunction. While there are a multitude of psychopharmacologic agents are available for treatment of these illnesses, suboptimal response and significant adverse consequences limit their utility. Cariprazine is a new, novel antipsychotic medication with dopamine D2 and D3 partial agonist effects. Its safety and efficacy have been investigated in acute psychosis of schizophrenia, bipolar mania, bipolar depression, and unipolar depression. Efficacy has been demonstrated in schizophrenia and mania. It is unclear if cariprazine is effective in depression associated with unipolar or bipolar illness. Adverse …

Comprehensive Public Health Delivery Systems: Using Foundational Capabilities To Achieve Health Impact And Equity, Glen P. Mays

Health Management and Policy Presentations

Achieving health equity requires building more comprehensive systems. Using data from a nationally representative cohort of U.S. communities, this session will explore the characteristics of Comprehensive Public Health Delivery Systems, the structures and processes needed to build such systems, and the health and economic benefits attributable to these systems.

Learning Objectives:

• Compare innovative ways to structure local health departments that maximize resources to enhance service delivery to the community.
• Discuss ways local health departments can build strategic alliances to implement successful collaborations that address health threats in the community.

The Confounding Effects Of Particle Size And Substrate Bulk Density On Phanerochaete Chrysosporium Pretreatment On Panicum Virgatum, Amanda N. Hickman, Sue E. Nokes, William S. Sympson, Mathew J. Ruwaya, Michael D. Montross, Barbara L. Knutson

Biosystems and Agricultural Engineering Faculty Publications

Phanerochaete chrysosporium treatment is less effective as a biological pretreatment on feedstock with larger particle sizes. We hypothesized that the improved effectiveness of the pretreatment when smaller particle sizes are used may be due to the inherently higher bulk density with smaller particle sizes. The effects of substrate bulk density and particle size on the efficacy of P. chrysosporium pretreatment of switchgrass (Panicum virgatum) was tested experimentally. Phanerochaete chrysosporium was grown on senesced switchgrass (2 different particle sizes) with various bulk densities. In all treatments, the fungal-pretreated samples released more glucose during enzymatic saccharification than the control sample. …

Transcriptome Analysis Of B Cell Immune Functions In Periodontitis: Mucosal Tissue Responses To The Oral Microbiome In Aging, Jeffrey L. Ebersole, Sreenatha S. Kirakodu, Michael John Novak, Luis Orraca, Janis Gonzalez-Martinez, Larry Cunningham Jr., Mark V. Thomas, Arnold J. Stromberg, Subramanya N. Pandruvada, Octavio A. Gonzalez

Center for Oral Health Research Faculty Publications

Evidence has shown activation of T and B cells in gingival tissues in experimental models and in humans diagnosed with periodontitis. The results of this adaptive immune response are noted both locally and systemically with antigenic specificity for an array of oral bacteria, including periodontopathic species, e.g., Porphyromonas gingivalis and Aggregatibacter actinomycetemcomitans. It has been recognized through epidemiological studies and clinical observations that the prevalence of periodontitis increases with age. This report describes our studies evaluating gingival tissue transcriptomes in humans and specifically exploiting the use of a non-human primate model of naturally occurring periodontitis to delineate gingival mucosal …

Cognitive Aid Use Improves Transition Of Care By Graduating Medical Students During A Simulated Crisis, Brooke Bauer, Annette Rebel, Amy Dilorenzo, Randall M. Schell, Jeremy S. Dority, Faith Lukens, Paul A. Sloan

Anesthesiology Faculty Publications

Background: Residents are expected to have transition of care (ToC) skills upon entering graduate medical education. It is unclear whether experience and training during medical school is adequate.

Objective: The aim of the project was to assess: 1) graduating medical students' ability to perform ToC in a crisis situation, and 2) whether using a cognitive aid improves the ToC quality.

Methods: The authors developed simulation scenarios for rapid response teams and a cognitive aid to assist in the ToC during crisis situations. Graduating medical students were enrolled and randomly divided into teams of three students, randomly assigned into one …

Repeated Closed Head Injury In Mice Results In Sustained Motor And Memory Deficits And Chronic Cellular Changes, Amanda Nicholle Bolton Hall, Binoy Joseph, Jennifer M. Brelsfoard, Kathryn E. Saatman

Spinal Cord and Brain Injury Research Center Faculty Publications

Millions of mild traumatic brain injuries (TBIs) occur every year in the United States, with many people subject to multiple head injuries that can lead to chronic behavioral dysfunction. We previously reported that mild TBI induced using closed head injuries (CHI) repeated at 24h intervals produced more acute neuron death and glial reactivity than a single CHI, and increasing the length of time between injuries to 48h reduced the cumulative acute effects of repeated CHI. To determine whether repeated CHI is associated with behavioral dysfunction or persistent cellular damage, mice receiving either five CHI at 24h intervals, five CHI at …

Incidence Of Pump Thrombosis In Heartmate Ii During Destination Therapy, Rohan Samson, Abhishek Jaiswal, Frank Smart, Thierry H. Lejemtel

The VAD Journal

Pump thrombosis (PT) occurs during destination therapy (DT) with HeartMate II, a continuous blood flow left ventricular assist device (St Jude, Pleasanton, CA, USA). With adherence to stringent post-operative and long-term anticoagulation a low incidence of PT was initially reported during DT. The increased PT incidence during DT that was reported in early 2013 was attributed to lenient anticoagulation. A wide range of PT incidence during DT is being reported since the return to stringent post-operative and long-term anticoagulation. We searched PubMed from January 2008 to February 2016 for reports of PT during mechanical circulatory support with HeartMate II and …

Development Of The Chronic Obstructive Pulmonary Disease Morning Symptom Diary (Copd-Msd), Gary Globe, Brooke Currie, Nancy Kline Leidy, Paul Jones, David M. Mannino, Fernando Martinez, Paul Klekotka, Sean O'Quinn, Niklas Karlsson, Ingela Wiklund

Preventive Medicine and Environmental Health Faculty Publications

Background: The morning tends to be the most difficult time of day for many patients with chronic obstructive pulmonary disease (COPD) when symptoms can limit one’s ability to perform even simple activities. Morning symptoms have been linked to higher levels of work absenteeism, thereby increasing the already substantial economic burden associated with COPD. A validated patient-reported outcome (PRO) instrument designed to capture morning symptoms will allow for a more comprehensive approach to the evaluation of treatment benefit in COPD clinical trials.

Methods: A qualitative interview study was conducted among a sample of symptomatic adults with COPD. Concept elicitation interviews ( …

Erbb2 And P38Γ Mapk Mediate Alcohol-Induced Increase In Breast Cancer Stem Cells And Metastasis, Mei Xu, Zhenhua Ren, Xin Wang, Ashley Comer, Jacqueline A. Frank, Zun-Ji Ke, Yi Huang, Zhuo Zhang, Xianglin Shi, Siying Wang, Jia Luo

Pharmacology and Nutritional Sciences Faculty Publications

Background: Both epidemiological and experimental studies suggest that excessive alcohol exposure increases the risk for breast cancer and enhances metastasis/recurrence. We have previously demonstrated that alcohol enhanced the migration/invasion of breast cancer cells and cancer cells overexpressing ErbB2/HER2 were more sensitive to alcohol exposure. However, the underlying mechanisms remain unclear. This study was designed to investigate the mechanisms underlying alcohol-enhanced aggressiveness of breast cancer. Cancer stem cells (CSCs) play a critical role in cancer metastasis and recurrence.

Methods: We evaluated the effect of chronic alcohol exposure on mammary tumor development/metastasis in MMTV-neu transgenic mice and investigated the cell signaling in …

Hdac6 Inhibition Prevents Tnf-Α-Induced Caspase 3 Activation In Lung Endothelial Cell And Maintains Cell-Cell Junctions, Jinyan Yu, Mengshi Ma, Zhongsen Ma, Jian Fu

Center for Research on Environmental Disease Faculty Publications

Pro-inflammatory mediators such as TNF-α induce caspase activation in endothelial cells, which leads to degradation of cellular proteins, induction of apoptotic signaling, and endothelial cell dysfunction. New therapeutic agents that can inhibit caspase activation may provide protection against inflammatory injury to endothelial cells. In the present study, we examined the effects of selective histone deacetylase 6 (HDAC6) inhibition on TNF-α induced caspase 3 activation and cell-cell junction dysfunction in lung endothelial cells. We also assessed the protective effects of HDAC6 inhibition against lung inflammatory injury in a mouse model of endotoxemia. We demonstrated that selective HDAC6 inhibition or knockdown of …

Sustained Release Of Topical Anesthetics, Michael Jay

Pharmaceutical Sciences Faculty Patents

A composition and method to alleviate oral mucosal discomfort and irritation in an orthodontic patient. A wax matrix containing less that 15% analgesic/anesthetic agent such as benzocaine and excipients enhanced and extended release of the analgesic/anesthetic agent compared to known art formulations. The composition exhibited desirable aesthetic properties, was easy to apply, and the relatively lower concentration of active agent provided enhanced safety.

Exposure Of Human Lung Cells To Tobacco Smoke Condensate Inhibits The Nucleotide Excision Repair Pathway, Nathaniel C. Holcomb, Mamta Goswami, Sung Gu Han, Samuel Clark, David K. Orren, C. Gary Gairola, Isabel Mellon

Toxicology and Cancer Biology Faculty Publications

Exposure to tobacco smoke is the number one risk factor for lung cancer. Although the DNA damaging properties of tobacco smoke have been well documented, relatively few studies have examined its effect on DNA repair pathways. This is especially true for the nucleotide excision repair (NER) pathway which recognizes and removes many structurally diverse DNA lesions, including those introduced by chemical carcinogens present in tobacco smoke. The aim of the present study was to investigate the effect of tobacco smoke on NER in human lung cells. We studied the effect of cigarette smoke condensate (CSC), a surrogate for tobacco smoke, …

Dasatinib-Loaded Albumin Nanoparticles Possess Diminished Endothelial Cell Barrier Disruption And Retain Potent Anti-Leukemia Cell Activity, Chunling Dong, Bo Li, Zhenyu Li, Sreerama Shetty, Jian Fu

Internal Medicine Faculty Publications

Dasatinib (DAS), a second-generation tyrosine kinase inhibitor, is highly effective in treating chronic myeloid leukemia and Philadelphia chromosome-positive acute lymphoblastic leukemia. However, its clinical use is limited due to serious adverse effects. DAS can disrupt endothelial barrier integrity and increase endothelial permeability which may cause peripheral edema and pleural effusion. Albumin nanoparticles (NPs) as a drug carrier may serve as a useful tool for cell-selective drug delivery to reduce DAS-induced endothelial hyperpermeability and maintain endothelial barrier integrity. In this study, we reported that DAS-loaded NPs exhibited potent anti-leukemia efficacy as DAS alone. Importantly, albumin NPs as a drug carrier markedly …

Injury-Related Infant Deaths: A State Analysis Of A Public Health, Health Care, Policy Network, Sharla Smith, Xi Zhu, Mary Aitken

Frontiers in Public Health Services and Systems Research

Introduction: This research examines a state-level public health, health care, and policy network focused on efforts to reduce unintentional childhood injuries. The network is composed of 12 organizations: four public health, four health care, and four policy.

Methods: A 23-item survey was administered to the 12 organizations between January and June 2015. Analyses were conducted using HyperResearch and UCInet 6.

Results: More organizations worked together on assessment and planning efforts that identify and quantify the nature of at-risk infants in the community and strategies for reducing injury-related infant deaths. The Injury Prevention Center, the most central organization, interacted most frequently …

Revenue Reporting By Illinois Local Health Departments: Observations And Recommendations, Georgeen Polyak Phd, Monica Vargas

Frontiers in Public Health Services and Systems Research

Background: The lack of a stable and adequate funding system for local health departments in the U.S. has been well documented. The lack of a comprehensive financial reporting system in public health, including a uniform chart of accounts, hampers the ability of local health departments to make a case to legislators and administrators for increased funding from local and state sources.

Purpose: This study examined potential sources of revenue reporting by local health departments in Illinois to identify an accurate picture of total revenues and sources of revenues being invested.

Methods: A literature review identified four sources of revenue reporting: …

A Tool To Cost Environmental Health Services In North Carolina Local Health Departments, Nancy L. Winterbauer, Simone Singh, Ashley Tucker, Lisa M. Harrison

Frontiers in Public Health Services and Systems Research

Introduction: The cost of providing a basic set of public health services necessary not been well-described. Recent work suggests public health practitioners are unlikely to have the empirically-based financing information necessary to make informed decisions regarding practice. The purpose of this paper is to describe the development of a costing tool used to collect primary data on the number of services provided, staff employed, and costs incurred for two types of mandated environmental health services: food and lodging inspections and onsite water services.

Methods: The tool was iteratively reviewed, revised, and piloted with local health department (LHD) environmental health and …

Geographic Health Disparities In Kentucky: Starting A Conversation About Local Solutions, Steven H. Woolf, Derek A. Chapman, F. Douglas Scutchfield Md

Frontiers in Public Health Services and Systems Research

A recently released map of Kentucky demonstrates how life expectancy varies across the state’s 120 counties. The map vividly shows a decline in life expectancy as one travels east from the “Golden Triangle” in central urban Kentucky to the mountains of Appalachia. The lowest life expectancies are largely in the far southeastern portion of the state, where residents of the Central Highlands have confronted adverse social determinants of health for generations. Indeed, companion maps released by the Center on Society and Health, which plot median household income, poverty, and educational attainment at the census tract level, show the stark socioeconomic …

Distinct And Shared Functions Of Als-Associated Proteins Tdp-43, Fus And Taf15 Revealed By Multisystem Analyses, Katannya Kapeli, Gabriel A. Pratt, Anthony Q. Vu, Kasey R. Hutt, Fernando J. Martinez, Balaji Sundararaman, Ranjan Batra, Peter Freese, Nicole J. Lambert, Stephanie C. Huelga, Seung J. Chun, Tiffany Y. Liang, Jeremy Chang, John P. Donohue, Lily Shiue, Jiayu Zhang, Haining Zhu, Franca Cambi, Edward J. Kasarskis, Shawn Hoon, Manuel Ares Jr., Christopher B. Burge, John Ravits, Frank Rigo, Gene W. Yeo

Molecular and Cellular Biochemistry Faculty Publications

The RNA-binding protein (RBP) TAF15 is implicated in amyotrophic lateral sclerosis (ALS). To compare TAF15 function to that of two ALS-associated RBPs, FUS and TDP-43, we integrate CLIP-seq and RNA Bind-N-Seq technologies, and show that TAF15 binds to ∼4,900 RNAs enriched for GGUA motifs in adult mouse brains. TAF15 and FUS exhibit similar binding patterns in introns, are enriched in 3′ untranslated regions and alter genes distinct from TDP-43. However, unlike FUS and TDP-43, TAF15 has a minimal role in alternative splicing. In human neural progenitors, TAF15 and FUS affect turnover of their RNA targets. In human stem cell-derived motor …

Adverse Childhood Experiences, Support, And The Perception Of Ability To Work In Adults With Disability, Sophia Miryam Schüssler-Fiorenza Rose, Jessica G. Eslinger, Lindsey Zimmerman, Jamie Scaccia, Betty S. Lai, Catrin Lewis, Eva Alisic

Psychiatry Faculty Publications

Objective To examine the impact of adverse childhood experiences (ACEs) and support on self-reported work inability of adults reporting disability.

Participants Adults (ages 18-64) who participated in the Behavioral Risk Factor Surveillance System in 2009 or 2010 and who reported having a disability (n = 13,009).

Design and Main Outcome Measures The study used a retrospective cohort design with work inability as the main outcome. ACE categories included abuse (sexual, physical, emotional) and family dysfunction (domestic violence, incarceration, mental illness, substance abuse, divorce). Support included functional (perceived emotional/social support) and structural (living with another adult) support. Logistic regression was …

Enhanced Bovine Colostrum Supplementation Shortens The Duration Of Respiratory Disease In Thoroughbred Yearlings, Clara K. Fenger, Thomas Tobin, Patrick J. Casey, Edward A. Roualdes, John L. Langemeier, Ruel Cowles, Deborah M. Haines

Maxwell H. Gluck Equine Research Center Faculty Publications

Bovine colostrum (BC) is used in humans as a nutritional supplement for immune support and has been shown to reduce Respiratory disease (RD). Other nutritional supplements, minerals and vitamins including mannan oligosaccharides (MOS), zinc and vitamins A, C and E have also been used for immune support. The aim of this prospective blinded randomized clinical trial was to evaluate the effects of a BC, MOS, zinc and vitamin based enhanced bovine colostrum supplement (BCS) on incidence and duration of RD occurring in yearling horses. 109 yearlings on two Thoroughbred farms in Central Kentucky were randomly assigned to treatment or placebo …

Red-Shifted Aequorin Variants Incorporating Non-Canonical Amino Acids: Applications In In Vivo Imaging, Kristen M. Grinstead, Laura Rowe, Mark Ensor, Smita Joel, Pirouz Daftarian, Emre Dikici, Jean-Marc Zingg, Sylvia Daunert

Pharmaceutical Sciences Faculty Publications

The increased importance of in vivo diagnostics has posed new demands for imaging technologies. In that regard, there is a need for imaging molecules capable of expanding the applications of current state-of-the-art imaging in vivo diagnostics. To that end, there is a desire for new reporter molecules capable of providing strong signals, are non-toxic, and can be tailored to diagnose or monitor the progression of a number of diseases. Aequorin is a non-toxic photoprotein that can be used as a sensitive marker for bioluminescence in vivo imaging. The sensitivity of aequorin is due to the fact that bioluminescence is a …

Large Deletions At The Shox Locus In The Pseudoautosomal Region Are Associated With Skeletal Atavism In Shetland Ponies, Nima Rafati, Lisa S. Andersson, Sofia Mikko, Chungang Feng, Terje Raudsepp, Jessica Pettersson, Jan Janecka, Ove Wattle, Adam Ameur, Gunilla Thyreen, John E. Eberth, John Huddleston, Maika Malig, Ernest Bailey, Evan E. Eichler, Göran Dalin, Bhanu Chowdary, Leif Andersson, Gabriella Lindgren, Carl-Johan Rubin

Maxwell H. Gluck Equine Research Center Faculty Publications

Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which were scattered on genome assembly unassigned scaffolds. …