Digital Commons Network^™

Resource Availability And Implications For The Development Of Plug‐In Electric Vehicles, Ona Egbue, Suzanna Long, Seong Dae Kim

Engineering Management and Systems Engineering Faculty Research & Creative Works

Plug‐in electric vehicles (PEVs) have immense potential for reducing greenhouse gas emissions and dependence on fossil fuels, and for smart grid applications. Although a great deal of research is focused on technological limitations that affect PEV battery performance targets, a major and arguably equal concern is the constraint imposed by the finite availability of elements or resources used in the manufacture of PEV batteries. Availability of resources, such as lithium, for batteries is critical to the future of PEVs and is, therefore, a topic that needs attention. This study addresses the issues related to lithium availability and sustainability, particularly supply …

Noninvasive Detection, Tracking, And Characterization Of Aerogel Implants Using Diagnostic Ultrasound, Sagar Ghimire, Martina Rodriguez Sala, Swetha Chandrasekaran, Grigorios Raptopoulos, Marcus Worsley, Patrina Paraskevopoulou, Nicholas Leventis, Firouzeh Sabri

Chemistry Faculty Research & Creative Works

Medical implants are routinely tracked and monitored using different techniques, such as MRI, X‐ray, and ultrasound. Due to the need for ionizing radiation, the two former methods pose a significant risk to tissue. Ultrasound imaging, however, is non‐invasive and presents no known risk to human tissue. Aerogels are an emerging material with great potential in biomedical implants. While qualitative observation of ultrasound images by experts can already provide a lot of infor-mation about the implants and the surrounding structures, this paper describes the development and study of two simple B‐Mode image analysis techniques based on attenuation measurements and echogenicity comparisons, …

Whole-Genome Sequence And Interaction Analysis In The Production Of Six Enzymes From The Three Bacillus Strains Present In A Commercial Direct-Fed Microbial (Norum™) Using A Bliss Independence Test, Daniel Hernandez-Patlan, Bruno Solis-Cruz, Juan D. Latorre, Ruben Merino-Guzman, Miguel Morales Rodriguez, Catie Ausland, Xochitl Hernandez-Velasco, Oscar Ortiz Holguin, Ramiro Delgado, Billy Hargis, Pallavi Singh, Guillermo Tellez-Isaias

Poultry Science Faculty Publications and Presentations

The three Bacillus strains present in Norum™ were initially selected by their excellent to good relative enzyme activity (REA) production score for amylase, protease, lipase, phytase, cellulase, β-glucanase, and xylanase. Further studies confirmed that the three isolates also showed an antibacterial activity, Gram-positive and Gram-negative poultry pathogens. Norum™ (Eco-Bio/Euxxis Bioscience LLC) is a Bacillus spore direct-fed microbial (DFM). The Bacillus isolates were screened and selected based on in vitro enzyme production profiles. Moreover, in chickens fed high non-starch polysaccharides, this DFM demonstrated to reduce digesta viscosity, bacterial translocation, increase performance, bone mineralization, and balance the intestinal microbiota. In the present …

Probiotics, Prebiotics, And Phytogenic Substances For Optimizing Gut Health In Poultry, Awad A. Shehata, Sakine Yalçın, Juan D. Latorre, Shereen Basiouni, Youssef A. Attia, Amr Abd El-Wahab, Christian Visscher, Hesham R. El-Seedi, Claudia Huber, Hafez M. Hafez, Wolfgang Eisenreich, Guillermo Tellez-Isaias

Poultry Science Faculty Publications and Presentations

The gut microbiota has been designated as a hidden metabolic 'organ' because of its enormous impact on host metabolism, physiology, nutrition, and immune function. The connection between the intestinal microbiota and their respective host animals is dynamic and, in general, mutually beneficial. This complicated interaction is seen as a determinant of health and disease; thus, intestinal dysbiosis is linked with several metabolic diseases. Therefore, tractable strategies targeting the regulation of intestinal microbiota can control several diseases that are closely related to inflammatory and metabolic disorders. As a result, animal health and performance are improved. One of these strategies is related …

Developing Peri-Operative Rehabilitation In Degenerative Cervical Myelopathy [Ao Spine Recode-Dcm Research Priority Number 6]: An Unexplored Opportunity?, Timothy F Boerger, Allison S Hyngstrom, Julio C Furlan, Sukhvinder Kalsi-Ryan, Armin Curt, Brian K Kwon, Shekar N Kurpad, Michael G Fehlings, James Harrop, Bizhan Aarabi, Vafa Rahimi-Movaghar, James D Guest, Jefferson R Wilson, Benjamin M Davies, Mark R N Kotter, Paul A Koljonen

Department of Neurosurgery Faculty Papers

Study design: Narrative review.

Objective: Degenerative cervical myelopathy is one of the most frequent impairments of the spinal cord encountered internationally in adults. Currently, surgical decompression is the recommended treatment for people with DCM (PwCM) presenting with moderate to severe symptoms or neurological deficits. However, despite surgical intervention, not all patients make a complete recovery due to the irreversible tissue damage within the spinal cord. The objective of this review is to describe the state and gaps in the current literature on rehabilitation for PwCM and possible innovative rehabilitation strategies.

Methods: Literature search.

Results: In other neurological disorders such as …

Transpiration Responses Of Herbicide-Resistant And -Susceptible Palmer Amaranth (Amaranthus Palmeri (S.) Wats.) To Progressively Drying Soil, Koffi Badou Jeremie Kouame, Mary Savin, Gulab Rangani, Thomas R. Butts, Matthew B. Bertucci, Nilda Roma-Burgos

Crop, Soil and Environmental Sciences Faculty Publications and Presentations

Drought events are predicted to increase in the future. Evaluating the response of herbicide-resistant and -susceptible weed ecotypes to progressive drought can provide insights into whether resistance traits affect the fitness of resistant weed populations. Two experiments were conducted in the greenhouse between January and May 2021 to evaluate drought tolerance differences between Palmer amaranth accessions resistant to S-metolachlor or glyphosate and their susceptible counterparts. The accessions used were S-metolachlor-resistant (17TUN-A), a susceptible standard (09CRW-A), and glyphosate-resistant (22–165 EPSPS copies) and glyphosate-susceptible (3–10 EPSPS copies) plants from accession 16CRW-D. Daily transpiration of each plant was measured. The daily transpiration rate …

Radiation Therapy Across Pediatric Hodgkin Lymphoma Research Group Protocols: A Report From The Staging, Evaluation, And Response Criteria Harmonization (Search) For Childhood, Adolescent, And Young Adult Hodgkin Lymphoma (Cayahl) Group, Matthew Hall

All Publications

No abstract provided.

A New Framework For Investigating The Biological Basis Of Degenerative Cervical Myelopathy [Ao Spine Recode-Dcm Research Priority Number 5]: Mechanical Stress, Vulnerability And Time, Benjamin M Davies, Oliver Mowforth, Aref-Ali Gharooni, Lindsay Tetreault, Aria Nouri, Rana S Dhillon, Josef Bednarik, Allan R Martin, Adam Young, Hitoshi Takahashi, Timothy F Boerger, Virginia Fj Newcombe, Carl Moritz Zipser, Patrick Freund, Paul Aarne Koljonen, Ricardo Rodrigues-Pinto, Vafa Rahimi-Movaghar, Jefferson R Wilson, Shekar N Kurpad, Michael G Fehlings, Brian K Kwon, James Harrop, James D Guest, Armin Curt, Mark R N Kotter

Department of Neurosurgery Faculty Papers

Study design: Literature Review (Narrative).

Objective: To propose a new framework, to support the investigation and understanding of the pathobiology of DCM, AO Spine RECODE-DCM research priority number 5.

Methods: Degenerative cervical myelopathy is a common and disabling spinal cord disorder. In this perspective, we review key knowledge gaps between the clinical phenotype and our biological models. We then propose a reappraisal of the key driving forces behind DCM and an individual's susceptibility, including the proposal of a new framework.

Results: Present pathobiological and mechanistic knowledge does not adequately explain the disease phenotype; why only a subset of patients with …

Developing Novel Therapies For Degenerative Cervical Myelopathy [Ao Spine Recode-Dcm Research Priority Number 7]: Opportunities From Restorative Neurobiology., Aref-Ali Gharooni, Brian K Kwon, Michael G Fehlings, Timothy F Boerger, Ricardo Rodrigues-Pinto, Paul Aarne Koljonen, Shekar N Kurpad, James Harrop, Bizhan Aarabi, Vafa Rahimi-Movaghar, Jefferson R Wilson, Benjamin M Davies, Mark R N Kotter, James D Guest

Department of Neurosurgery Faculty Papers

Study design: Narrative review.

Objectives: To provide an overview of contemporary therapies for the James Lind Alliance priority setting partnership for degenerative cervical myelopathy (DCM) question: 'Can novel therapies, including stem-cell, gene, pharmacological and neuroprotective therapies, be identified to improve the health and wellbeing of people living with DCM and slow down disease progression?'

Methods: A review of the literature was conducted to outline the pathophysiology of DCM and present contemporary therapies that may hold therapeutic value in 3 broad categories of neuroprotection, neuroregeneration, and neuromodulation.

Results: Chronic spinal cord compression leads to ischaemia, neuroinflammation, demyelination, and neuronal loss. Surgical …

Small Spot Size Versus Large Spot Size: Effect On Plan Quality For Lung Cancer In Pencil Beam Scanning Proton Therapy, Suresh Rana

All Publications

No abstract provided.

Radiation Therapy Across Pediatric Hodgkin Lymphoma Research Group Protocols: A Report From The Staging, Evaluation, And Response Criteria Harmonization (Search) For Childhood, Adolescent, And Young Adult Hodgkin Lymphoma (Cayahl) Group, Matthew Hall

All Publications

No abstract provided.

Scalable Probabilistic Model Selection For Network Representation Learning In Biological Network Inference, K C Kishan

Theses

A biological system is a complex network of heterogeneous molecular entities and their interactions contributing to various biological characteristics of the system. Although the biological networks not only provide an elegant theoretical framework but also offer a mathematical foundation to analyze, understand, and learn from complex biological systems, the reconstruction of biological networks is an important and unsolved problem. Current biological networks are noisy, sparse and incomplete, limiting the ability to create a holistic view of the biological reconstructions and thus fail to provide a system-level understanding of the biological phenomena. Experimental identification of missing interactions is both time-consuming and …

Efficacy Of Flapping-Wing Flight Via Dual Piezoelectric Actuation, Quinn Andrew O'Rourke

Theses

A novel piezoelectric-actuated wing system featuring dual actuators for increased wing control is presented and evaluated for its forward-flight characteristics via theoretical modeling and physical wind tunnel testing. Flapping wing aerial systems serve as a middle ground between the traditional fixed-wing and rotary systems. Flapping wing aerial systems exhibit high maneuverability and stability at low speeds (like rotary systems) while maintaining increased efficiency (like fixed-wing systems). Flapping wings also eliminate the necessity of dangerous fast-moving propellers and open the door to actuation mechanisms other than traditional motors. This research explores one of these alternatives: the piezoelectric bending actuator. Piezoelectric materials …

Culturable Fungal Endophyte Communities Of Primary Successional Plants On Mount St. Helens, Wa, Usa, Emily R. Wolfe, Robyn Dove, Cassandra Webster, Daniel J. Ballhorn

Biology Faculty Publications and Presentations

Background: While a considerable amount of research has explored plant community composition in primary successional systems, little is known about the microbial communities inhabiting these pioneer plant species. Fungal endophytes are ubiquitous within plants, and may play major roles in early successional ecosystems. Specifically, endophytes have been shown to affect successional processes, as well as alter host stress tolerance and litter decomposition dynamics—both of which are important components in harsh environments where soil organic matter is still scarce.

Results: To determine possible contributions of fungal endophytes to plant colonization patterns, we surveyed six of the most common woody …

Dean's Update, February 2022, Jerry L. Nadler

SOM Dean's Research Newsletter

No abstract provided.

Servant Leadership Practices Of Principals: A Case Study, Bradley Benton Haga

Doctoral Dissertations and Projects

The purpose of this qualitative case study was to identify practices of servant leadership styles of principals in selected rural school divisions in Southwestern, Virginia. The theories that guided this research were Robert Greenleaf’s (1970) servant leadership and Maslow’s Hierarchy of Needs (1943). The central research question is: How do public school principals describe their servant leadership practices? The sub-questions include (a) what servant leadership practices are used with students? (b) what servant leadership practices are used with parents? (c) what servant leadership practices are used with faculty and staff? Participants were screened through purpose sampling by using the screening …

A Case Study Examining How Teachers And Parents Provide Strategies That Nurture The Academic And Social Development Of Young Black Children In Low-Socioeconomic Communities, Naomi Nyambura Karaya

Doctoral Dissertations and Projects

The purpose of this case study was to describe how teachers and parents provided strategies that nurture the academic and social development of young Black children in schools located in low-socioeconomic communities in the United States. The study explored how teachers and parents balance nature with nurture in their instructional and parenting practices to positively impact students' academic growth and behavior. All participants in this case study were Black and included five teachers, four parents, two school counselors, two psychologists, and two social workers. Both males and females from diverse ethnic backgrounds were selected as participants and identified as co-researchers. …

Examining The Influence Of Religious Attitudes, Acceptance Of Change, And Cultural Mistrust On The Utilization Of Therapy For African American Male College Students Utilizing Therapy, Jessica Miranda Shine

Doctoral Dissertations and Projects

Cultural mistrust and fear of potential racism from people in the medical profession may be contributing to a noted disdain for mental health counseling among African American men. The purpose of this study was designed to gain insight into how attitudes toward religious help-seeking, acceptance of change, cultural mistrust, and mental health stigma impact therapy utilization among African American male college students. The review of literature explored the theoretical frameworks followed by the historical perspective, epigenetics, family structure, masculinity concept and help-seeking behaviors, noting barriers, fear, stigmas, spiritual influence, and economic hardships. Acceptance of change-evolving action is not currently endorsed …

A Unique Sarcopenic Progression In The Mouse Rotator Cuff, Gretchen A Meyer, Karen C Shen

2020-Current year OA Pubs

BACKGROUND: In response to chronic injury, the muscles of the rotator cuff (RC) experience a unique degeneration characterized by extensive fatty infiltration and loss of contractile function. Human studies suggest this degeneration is also a feature of RC sarcopenia and may precede RC injury. In this study, we investigated whether RC muscles exhibit a similar unique sarcopenia in the mouse.

METHODS: Male and female mice were subdivided into four age groups: 3, 9, 18, and 24 months. The supraspinatus (SS) and infraspinatus muscles of the RC and the tibialis anterior (TA) muscle of the hindlimb were assessed. Muscle mass, contractile …

A Human Breast Cancer-Derived Xenograft And Organoid Platform For Drug Discovery And Precision Oncology, Katrin P Guillen, Maihi Fujita, Andrew J Butterfield, Sandra D Scherer, Matthew H Bailey, Zhengtao Chu, Yoko S Derose, Ling Zhao, Emilio Cortes-Sanchez, Chieh-Hsiang Yang, Jennifer Toner, Guoying Wang, Yi Qiao, Xiaomeng Huang, Jeffery A Greenland, Jeffery M Vahrenkamp, David H Lum, Rachel E Factor, Edward W Nelson, Cindy B Matsen, Jane M Poretta, Regina Rosenthal, Anna C Beck, Saundra S Buys, Christos Vaklavas, John H Ward, Randy L Jensen, Kevin B Jones, Zheqi Li, Steffi Oesterreich, Lacey E Dobrolecki, Satya S Pathi, Xing Yi Woo, Kristofer C Berrett, Mark E Wadsworth, Jeffrey H Chuang, Michael T Lewis, Gabor T Marth, Jason Gertz, Katherine E Varley, Bryan E Welm, Alana L Welm

Faculty, Staff and Students Publications

Microscaled proteogenomics was deployed to probe the molecular basis for differential response to neoadjuvant carboplatin and docetaxel combination chemotherapy for triple-negative breast cancer (TNBC). Proteomic analyses of pretreatment patient biopsies uniquely revealed metabolic pathways, including oxidative phosphorylation, adipogenesis, and fatty acid metabolism, that were associated with resistance. Both proteomics and transcriptomics revealed that sensitivity was marked by elevation of DNA repair, E2F targets, G₂–M checkpoint, interferon-gamma signaling, and immune-checkpoint components. Proteogenomic analyses of somatic copy-number aberrations identified a resistance-associated 19q13.31–33 deletion where LIG1, POLD1, and XRCC1 are located. In orthogonal datasets, LIG1 (DNA ligase I) gene …

Abnormal Perception Of Pattern-Induced Flicker Colors In Subjects With Glaucoma, Padmapriya Ramamoorthy, Nicole L Alexander, Benjamin J Frankfort

Faculty, Staff and Students Publications

Pattern-induced flicker colors (PIFCs) are subjective colors that can be elicited with rotation of an achromatic stimulus such as the Benham disk. The perceptive mechanisms underlying PIFCs are not well-understood, but are thought to be generated primarily by retinal cell types which may be dysfunctional in glaucoma. Using a custom computer-based system, we tested PIFC perception across several Benham disk parameters, including the rates of acceleration and deceleration, rotational direction, and image contrast in both control and glaucoma subjects. We defined the Benham perception limit (BPL) during acceleration as the rotational speed at which PIFCs were first detected (Benham perception …

Head And Neck Cancer Survivorship Consensus Statement From The American Head And Neck Society, Neerav Goyal, Andrew Day, Joel Epstein, Joseph Goodman, Evan Graboyes, Scharukh Jalisi, Ana P Kiess, Jamie A Ku, Matthew C Miller, Aru Panwar, Vijay A Patel, Assuntina Sacco, Vlad Sandulache, Amy M Williams, Daniel Deschler, D Gregory Farwell, Cherie-Ann Nathan, Carole Fakhry, Nishant Agrawal

Faculty, Staff and Students Publications

OBJECTIVES: To provide a consensus statement describing best practices and evidence regarding head and neck cancer survivorship.

METHODS: Key topics regarding head and neck cancer survivorship were identified by the multidisciplinary membership of the American Head and Neck Society Survivorship, Supportive Care & Rehabilitation Service. Guidelines were generated by combining expert opinion and a review of the literature and categorized by level of evidence.

RESULTS: Several areas regarding survivorship including dysphonia, dysphagia, fatigue, chronic pain, intimacy, the ability to return to work, financial toxicity, lymphedema, psycho-oncology, physical activity, and substance abuse were identified and discussed. Additionally, the group identified and …

Δnp63 Regulates A Common Landscape Of Enhancer Associated Genes In Non-Small Cell Lung Cancer, Marco Napoli, Sarah J Wu, Bethanie L Gore, Hussein A Abbas, Kyubum Lee, Rahul Checker, Shilpa Dhar, Kimal Rajapakshe, Aik Choon Tan, Min Gyu Lee, Cristian Coarfa, Elsa R Flores

Faculty, Staff and Students Publications

Distinct lung stem cells give rise to lung adenocarcinoma (LUAD) and squamous cell carcinoma (LUSC). ΔNp63, the p53 family member and p63 isoform, guides the maturation of these stem cells through the regulation of their self-renewal and terminal differentiation; however, the underlying mechanistic role regulated by ∆Np63 in lung cancer development has remained elusive. By utilizing a ΔNp63-specific conditional knockout mouse model and xenograft models of LUAD and LUSC, we found that ∆Np63 promotes non-small cell lung cancer by maintaining the lung stem cells necessary for lung cancer cell initiation and progression in quiescence. ChIP-seq analysis of lung basal cells, …

Fecal Microbiota Transplantation Commonly Failed In Children With Co-Morbidities, Richard Kellermayer, Qinglong Wu, Dorottya Nagy-Szakal, Karen Queliza, Faith D Ihekweazu, Claire E Bocchini, Abria R Magee, Numan Oezguen, Jennifer K Spinler, Emily B Hollister, Robert J Shulman, James Versalovic, Ruth Ann Luna, Tor C Savidge

Faculty, Staff and Students Publications

OBJECTIVES: Fecal microbiota transplantation (FMT) is arguably the most effective treatment for recurrent Clostridioides difficile infection (rCDI). Clinical reports on pediatric FMT have not systematically evaluated microbiome restoration in patients with co-morbidities. Here, we determined whether FMT recipient age and underlying co-morbidity influenced clinical outcomes and microbiome restoration when treated from shared fecal donor sources.

METHODS: Eighteen rCDI patients participating in a single-center, open-label prospective cohort study received fecal preparation from a self-designated (single case) or two universal donors. Twelve age-matched healthy children and four pediatric ulcerative colitis (UC) cases from an independent serial FMT trial, but with a shared …

Maternal Lactobacillus Reuteri Supplementation Shifts The Intestinal Microbiome In Mice And Provides Protection From Experimental Colitis In Female Offspring, Mahesh Krishna, Melinda Engevik, Karen Queliza, Savini Britto, Rajesh Shah, Wenly Ruan, Hongtao Wang, James Versalovic, Richard Kellermayer

Faculty, Staff and Students Publications

The purpose of our experiment was to explore how stochastic (inter-individual variation) gut microbiome composition may link to inflammatory bowel disease (IBD) susceptibility and guide the development of a perinatal preventative probiotic. Dextran sodium sulfate (DSS) was introduced to C57BL/BJ mice to induce acute colitis as a model of IBD. Potentially protective bacteria were identified using a discovery-validation cohort approach toward stochastic DSS susceptibility.

A Biomimetic Model For Oxidative Metabolism Of Thiopurine Drugs, Oluyemi Oludare Alo

Dissertations and Theses

Type B hepatotoxicity has been reported for thiopurines, and this has limited their clinical uses. Although a lot of research has been done on thiopurines, the precise mechanism of their hepatotoxicity is still unclear. The results of the in vitro and in vivo experiments aimed at assessing the products of their CYP450-mediated bioactivation have been contradictory. Although it has been theorized that the hepatic toxicity of this class of drug is caused by their bioactivation to electrophilic reactive metabolite (RM) and concomitant protein binding to form immunogenic adducts, resulting in direct cellular dysfunction or an immune response via the formation …

Exercise/Physical Activity In Individuals With Type 2 Diabetes: A Consensus Statement From The American College Of Sports Medicine, Jill A. Kanaley, Sheri R. Colberg, Matthew H. Corcoran, Steven K. Malin, Nancy R. Rodriguez, Carlos J. Crespo, John P. Kirwan, Juleen R. Zierath

OHSU-PSU School of Public Health Faculty Publications and Presentations

This consensus statement is an update of the 2010 American College of Sports Medicine position stand on exercise and type 2 diabetes. Since then, a substantial amount of research on select topics in exercise in individuals of various ages with type 2 diabetes has been published while diabetes prevalence has continued to expand worldwide. This consensus statement provides a brief summary of the current evidence and extends and updates the prior recommendations. The document has been expanded to include physical activity, a broader, more comprehensive definition of human movement than planned exercise, and reducing sedentary time. Various types of physical …

Recent Insights Into The Role Of Glia And Oxidative Stress In Alzheimer’S Disease Gained From Drosophila, Lindsey D Goodman, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

Here, we discuss findings made using Drosophila on Alzheimer's disease (AD) risk and progression. Recent studies have investigated the mechanisms underlying glia-mediated neuroprotection in AD. First, we discuss a novel mechanism of glial lipid droplet formation that occurs in response to elevated reactive oxygen species in neurons. The data suggest that disruptions to this process contribute to AD risk. We further discuss novel mechanistic insights into glia-mediated Aβ42-clearance made using the fly. Finally, we highlight work that provides evidence that the aberrant accumulation of reactive oxygen species in AD may not just be a consequence of disease but contribute to …

Morphometric And Structural Analysis Of Florida Manatee Spermatozoa, Jonathan R Cowart, Danielle M Collins, Daniel L Stanton, Gerhard Van Der Horst, Iskande V Larkin

Staff and Researcher Publications

Sperm characteristics, such as sperm morphology and sperm morphometry are important in assessing sperm quality. This is especially important for the management and conservation of endangered and exotic species, like the Florida manatee, where information of this nature is extremely limited. In this study, we fill this knowledge gap to better understand the reproductive physiology of Florida manatees by conducting the first extensive analysis of sperm morphometry and ultrastructure. Sperm were retrieved from the vas deferens of nine recently deceased Florida manatees. Computer-aided sperm morphology analysis (CASMA) was used for morphometric analysis and laser-scanning confocal microscopy and electron microscopy were …

Extensive Identification Of Genes Involved In Congenital And Structural Heart Disorders And Cardiomyopathy, Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik S Westphal, Cordula Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, David Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel W Rayner, Impc Consortium, Genomics England Research Consortium;, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Steven A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin Mckerlie, Yann Herault, K C Kent Lloyd, Mary E Dickinson, Valerie Gailus-Durner, Martin Hrabe De Angelis

Faculty, Staff and Students Publications

Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography and microcomputed tomography imaging to screen 3,894 single-gene-null mouse lines for structural and functional cardiac abnormalities, here we identify 705 lines with cardiac arrhythmia, myocardial hypertrophy and/or ventricular dilation. Among these 705 genes, 486 have not been previously associated with cardiac dysfunction in humans, and some of them represent variants of unknown relevance (VUR). Mice with mutations in Casz1, Dnajc18, Pde4dip, Rnf38 or Tmem161b genes show developmental cardiac structural abnormalities, …