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Articles 10231 - 10260 of 35281
Full-Text Articles in Entire DC Network
Data On Deck: A Case Study Of A Historic Undersea Film And Video Digitization Project, Karen Urbec Mlis, Ca, Audrey Mickle Mlis, Lisa Raymond
Data On Deck: A Case Study Of A Historic Undersea Film And Video Digitization Project, Karen Urbec Mlis, Ca, Audrey Mickle Mlis, Lisa Raymond
Journal of Contemporary Archival Studies
In 2021, the Woods Hole Oceanographic Institution (WHOI) Data Library and Archives (DLA), a part of the MBLWHOI (Marine Biological Laboratory Woods Hole Oceanographic Institution) Library, received a grant from the Council on Library and Information Resources (CLIR) Recordings at Risk (RAR) program to catalog, digitize, preserve, and make available historic films and videos of Alvin, the first-of-its-kind manned submersible vessel that has shown us more of the deep ocean than had ever been possible and transformed our understanding of life on Earth.
These moving images have not been accessible to researchers and were far past the intended life cycle …
We Are ... Marshall, August 9, 2023, Office Of Marshall University Communications
We Are ... Marshall, August 9, 2023, Office Of Marshall University Communications
We Are ... Marshall: the Newsletter for Marshall University 1999-2023
No abstract provided.
Functional Connectivity Varies Across Scales In A Fragmented Landscape, Kate I. T. Bird, Daniel R. Uden, Craig R. Allen
Functional Connectivity Varies Across Scales In A Fragmented Landscape, Kate I. T. Bird, Daniel R. Uden, Craig R. Allen
School of Natural Resources: Faculty Publications
Species of different sizes interact with the landscape differently because ecological structure varies with scale, as do species movement capabilities and habitat requirements. As such, landscape connectivity is dependent upon the scale at which an animal interacts with its environment. Analyses of landscape connectivity must incorporate ecologically relevant scales to address scale-specific differences. Many evaluations of landscape connectivity utilize incrementally increasing buffer distances or other arbitrary spatial delineations as scales of analysis. Instead, we used a mammalian body mass discontinuity analysis to objectively identify scales in the Central Platte River Valley (CPRV) of Nebraska, U.S.A. We implemented a graph-theoretic network …
Isolation Of Arabidopsis Thaliana Plants Homozygous For An Insertional Inactivation Mutation Within Atprp4., Sydney Raitz, Timothy D. Trott
Isolation Of Arabidopsis Thaliana Plants Homozygous For An Insertional Inactivation Mutation Within Atprp4., Sydney Raitz, Timothy D. Trott
Research in Biology
The AtPRP4 gene in Arabidopsis thaliana has been shown to function in several specific parts of the plant’s cell wall. It is shown to be expressed in the seeds, radicles, roots, leaves, inflorescences, and embryos of Arabidopsis thaliana. These patterns have suggested unique functions for ATPRP4 in determining cell-type-specific wall structure during the development of a plant as well as contributing to defense reactions against physical damage to the plant and pathogen infection within the plant. In this study, a simple DNA prep was performed on the true leaves of Arabidopsis thaliana. Subsequent PCR reactions were performed using …
Sex Differences In Metabolic Phenotype And Hypothalamic Inflammation In The 3xtg-Ad Mouse Model Of Alzheimer's Disease., Lisa S. Robison, Olivia J. Gannon, Abigail E. Salinero, Charly Abi-Ghanem, Richard D. Kelly, David A. Riccio, Febronia M. Mansour, Kristen L. Zuloaga
Sex Differences In Metabolic Phenotype And Hypothalamic Inflammation In The 3xtg-Ad Mouse Model Of Alzheimer's Disease., Lisa S. Robison, Olivia J. Gannon, Abigail E. Salinero, Charly Abi-Ghanem, Richard D. Kelly, David A. Riccio, Febronia M. Mansour, Kristen L. Zuloaga
Faculty Articles
BACKGROUND: Alzheimer's disease (AD) is notably associated with cognitive decline resulting from impaired function of hippocampal and cortical areas; however, several other domains and corresponding brain regions are affected. One such brain region is the hypothalamus, shown to atrophy and develop amyloid and tau pathology in AD patients. The hypothalamus controls several functions necessary for survival, including energy and glucose homeostasis. Changes in appetite and body weight are common in AD, often seen several years prior to the onset of cognitive symptoms. Therefore, altered metabolic processes may serve as a biomarker for AD, as well as a target for treatment, …
An Allelic Series Of Spontaneous Rorb Mutant Mice Exhibit A Gait Phenotype, Changes In Retina Morphology And Behavior, And Gene Expression Signatures Associated With The Unfolded Protein Response., George Murray, Jason A. Bubier, Oraya Zinder, Belinda S. Harris, James Clark, Mia-Cara Christopher, Courtany Hanley, Harianto Tjong, Meihong Li, Chew Yee Ngan, Laura G Reinholdt, Robert W. Burgess, Abigail L D Tadenev
An Allelic Series Of Spontaneous Rorb Mutant Mice Exhibit A Gait Phenotype, Changes In Retina Morphology And Behavior, And Gene Expression Signatures Associated With The Unfolded Protein Response., George Murray, Jason A. Bubier, Oraya Zinder, Belinda S. Harris, James Clark, Mia-Cara Christopher, Courtany Hanley, Harianto Tjong, Meihong Li, Chew Yee Ngan, Laura G Reinholdt, Robert W. Burgess, Abigail L D Tadenev
Faculty Research 2023
The Retinoid-related orphan receptor beta (RORβ) gene encodes a developmental transcription factor and has 2 predominant isoforms created through alternative first exon usage; one specific to the retina and another present more broadly in the central nervous system, particularly regions involved in sensory processing. RORβ belongs to the nuclear receptor family and plays important roles in cell fate specification in the retina and cortical layer formation. In mice, loss of RORβ causes disorganized retina layers, postnatal degeneration, and production of immature cone photoreceptors. Hyperflexion or "high-stepping" of rear limbs caused by reduced presynaptic inhibition by Rorb-expressing inhibitory interneurons of the …
Profiling And Verifying The Substrates Of E3 Ubiquitin Ligase Rsp5 In Yeast Cells, Shuai Fang, Geng Chen, Yiyang Wang, Rakhee Ganti, Tatiana A Chernova, Li Zhou, Savannah E Jacobs, Duc Duong, Hiroaki Kiyokawa, Yury O Chernoff, Ming Li, Natalia Shcherbik, Bo Zhao, Jun Yin
Profiling And Verifying The Substrates Of E3 Ubiquitin Ligase Rsp5 In Yeast Cells, Shuai Fang, Geng Chen, Yiyang Wang, Rakhee Ganti, Tatiana A Chernova, Li Zhou, Savannah E Jacobs, Duc Duong, Hiroaki Kiyokawa, Yury O Chernoff, Ming Li, Natalia Shcherbik, Bo Zhao, Jun Yin
Rowan-Virtua School of Osteopathic Medicine Departmental Research
Yeast is an essential model organism for studying protein ubiquitination pathways; however, identifying the direct substrates of E3 in the cell presents a challenge. Here, we present a protocol for using the orthogonal ubiquitin transfer (OUT) cascade to profile the substrate specificity of yeast E3 Rsp5. We describe steps for OUT profiling, proteomics analysis, in vitro and in cell ubiquitination, and stability assay. The protocol can be adapted for identifying and verifying the ubiquitination targets of other E3s in yeast. For complete details on the use and execution of this protocol, please refer to Wang et al.
August 9, 2023 Greenmail, University Of Alabama At Birmingham
August 9, 2023 Greenmail, University Of Alabama At Birmingham
GreenMail (student newsletter through 2024)
No abstract provided.
Nutrient Supplementation For Pre- And Post Acl Operation & Rehabilitation In Female Basketball Players, Mackenzie Steele, Joshua Munoz
Nutrient Supplementation For Pre- And Post Acl Operation & Rehabilitation In Female Basketball Players, Mackenzie Steele, Joshua Munoz
Department of Nutrition Student Projects
Understanding how nutrition and dietary protocols can help female athletes in the process of “returning to sport” after an anterior cruciate ligament (ACL) repair surgery should be discussed amongst interprofessional post-operational care teams. Amongst athletes, female counterparts experience ACL injuries at a higher incidence rate than males, this is due to a variety of biological factors while returning to sport at a lower rate. Due to this, it is important to analyze and evaluate the data available from sports journals on the effects diet and supplements may have on the musculoskeletal system. ACL grafts are often taken from a donating …
Ten Tips Taylored For Successful Talks With Landowners In Ranching And Range Management Landscapes, Taylor J. Linder, Susan N. Ellis-Felege, Christopher J. Felege
Ten Tips Taylored For Successful Talks With Landowners In Ranching And Range Management Landscapes, Taylor J. Linder, Susan N. Ellis-Felege, Christopher J. Felege
Biology Faculty Publications
Privately owned lands offer substantial land area that have the potential to contribute greatly to wildlife conservation. However, it is dubious for private landowners to engage in such programs that have not readily accepted their input. Given the future directions of wildlife conservation and needing to heavily integrate private lands into habitat objectives to meet wildlife population standards, it will be of growing importance to consider the needs and wants of private landowners to meet production goals and simultaneously wildlife habitat goals (and not the other way around). We recognize the important methodological research that has built foundations for current …
Examining The Restoration Potential Of Prescribed Fire And Tree Girdling Treatments On A Fire Dependent Ecosystem: Ecosystem Responses And Management Implications, Rebecca Daigle
Masters Theses
Oak savannas have greatly declined since the 1800s and management is needed to maintain these rare community types. A combination of prescribed burns and mechanical thinning are a common practice to increase forb abundance and biodiversity. This study examines the viability of another technique to thin the canopy called girdling, which was used in conjunction with low-intensity prescribed burns. Early summer prescribed burns were conducted in 2017, 2019, and 2021, while girdling treatments were implemented in 2017 and 2019. The study was conducted in Kent County, Michigan at two degraded former oak savanna communities. In 2022, we collected data to …
Qep Events, Josh Eyler
Qep Events, Josh Eyler
About ThinkForward
A summary of programming events related to the QEP on Critical Thinking: themes and agenda for the five annual Faculty Approaches to Critical Thinking (FACT) Institute, speaker series on Critical Thinking in the Disciplines
Investigating Transcriptional Anomalies During Persistence In Chlamydia Trachomatis, Nathan D. Hatch
Investigating Transcriptional Anomalies During Persistence In Chlamydia Trachomatis, Nathan D. Hatch
Theses & Dissertations
Chlamydia trachomatis (Ctr) is the leading cause of bacterial sexually transmitted infections. Ctr, a Gram-negative, obligate intracellular bacterium, develops within a membrane-bound vacuole termed an inclusion. This protective, nutrient rich, intracellular environment has allowed Ctr to undergo extensive reductive evolution – resulting in a streamlined genome of approximately 1 Mbp and the loss or fragmentation of several biosynthetic pathways, including the ability to synthesize tryptophan (Trp) de novo. During infection, the host immune system releases the cytokine IFNγ. Upon binding to a host cell, IFNγ stimulates the expression of indoleamine-2,3-dioxygenase, an enzyme capable of catabolizing cytosolic Trp, thereby starving …
The Occupation Of Surfing By Black, Indigenous, And People Of Color Communities As A Form Of Resistance, Emily Robleza, Karen Park
The Occupation Of Surfing By Black, Indigenous, And People Of Color Communities As A Form Of Resistance, Emily Robleza, Karen Park
Summer 2023 Virtual OTD Capstone Symposium
This study explores the concept of resistance through a qualitative research study by focusing on the occupation of surfing by Black, Indigenous, and People of Color. The concept and acts of resistance have seldom been discussed in occupational science literature in addressing these communities' barriers. The frameworks include occupational justice, postcolonialism, and collective occupations that provide a layout of why and how current grass-roots efforts of communities marginalized from a meaningful activity utilize the meaningful activity as a vehicle for liberation. Eight participants were interviewed to understand their individual experiences in surfing in Southern California. Themes include Race, Class, and …
Qosqo: A Documentary Approach To The Preservation Of Andean Culture, Emma Volz
Qosqo: A Documentary Approach To The Preservation Of Andean Culture, Emma Volz
Undergraduate Honors Theses
This thesis and creative project aspire to follow the well-worn path of documentary filmmaking. The written portion of this thesis includes background information on Incan history and the Southern Andean language of Quechua that informed and developed into my film, Qosqo. The short documentary is a hybrid between traditional and experimental non-fiction filmmaking, exploring Cusco, Peru’s spirituality through the sage perspective of a native Cusqueñan woman, Norma Sanchez de Incaroca.
The film is a personal reflection of Norma’s experience with the Quechua language, a historically marginalized and currently endangered language. Her reflections are framed within the context of Cusco’s complex …
A Dimensional Approach To Discrepancy In Parenting Styles In Russian Families, Marina A Zhukova, Nan Li, Vitalii Zhukov, Elena L Grigorenko
A Dimensional Approach To Discrepancy In Parenting Styles In Russian Families, Marina A Zhukova, Nan Li, Vitalii Zhukov, Elena L Grigorenko
Faculty, Staff and Students Publications
We investigated the magnitude and direction of differences in parenting styles as they relate to children's mental health problems, as assessed using the CBCL. The sample consisted of 306 families residing in a large industrial city in Russia. We aimed to expand the cross-cultural literature on parenting styles by assessing a sample of Russian families and analyzing how agreement versus disagreement between self-reported and partner-reported parenting styles related to children's mental health problems. The findings suggested that both congruence and incongruence between parenting styles could be associated with children's mental health problems. When parents agreed about high warmth and matched …
Dimethyl Sulfoxide Inhibits Bile Acid Synthesis In Healthy Mice But Does Not Protect Mice From Bile-Acid-Induced Liver Damage, Xi Chen, Huiqiao Li, Yu'e Liu, Jing Qi, Bingning Dong, Shixia Huang, Shangang Zhao, Yi Zhu
Dimethyl Sulfoxide Inhibits Bile Acid Synthesis In Healthy Mice But Does Not Protect Mice From Bile-Acid-Induced Liver Damage, Xi Chen, Huiqiao Li, Yu'e Liu, Jing Qi, Bingning Dong, Shixia Huang, Shangang Zhao, Yi Zhu
Faculty, Staff and Students Publications
Bile acids serve a vital function in lipid digestion and absorption; however, their accumulation can precipitate liver damage. In our study, we probed the effects of dimethyl sulfoxide (DMSO) on bile acid synthesis and the ensuing liver damage in mice induced by bile acids. Our findings indicate that DMSO efficaciously curbs bile acid synthesis by inhibiting key enzymes involved in the biosynthetic pathway, both in cultured primary hepatocytes and in vivo. Contrarily, we observed that DMSO treatment did not confer protection against bile-acid-induced liver damage in two distinct mouse models: one induced by a 0.1% DDC diet, leading to bile …
Insights On The Distribution Of Struthanthus Palmeri Kuijt (Loranthaceae), The Northernmost Species Of The Genus, Mónica I. Miguel-Vázquez, Yasser S. López De Olmos-Reyes, Maria Guadalupe Maldonado-Borja, Rosa Cerros-Tlatilpa
Insights On The Distribution Of Struthanthus Palmeri Kuijt (Loranthaceae), The Northernmost Species Of The Genus, Mónica I. Miguel-Vázquez, Yasser S. López De Olmos-Reyes, Maria Guadalupe Maldonado-Borja, Rosa Cerros-Tlatilpa
Western North American Naturalist
Struthanthus (Loranthaceae) is native to the Americas, and several species occur in Mexico, some of which are endemic, such as S. palmeri. Within the genus, S. palmeri has the northernmost distribution, inhabiting the arid environments of northwestern Mexico near the border with the United States. In this study, the known distribution of the species was updated. The elevation, hosts, and vegetation types where S. palmeri occurs were compiled to infer its potential distribution, using ecological niche modeling. Based on the results, the endemic status of S. palmeri is reinforced. This taxon occurs in several types of vegetation, from near …
Influence Of Ultrasound Machine Settings On Quantitative Measures Derived From Spatial Frequency Analysis Of Muscle Tissue, Scott K. Crawford, Stephanie A. Kliethermes, Bryan C. Heiderscheit, Greg Bashford
Influence Of Ultrasound Machine Settings On Quantitative Measures Derived From Spatial Frequency Analysis Of Muscle Tissue, Scott K. Crawford, Stephanie A. Kliethermes, Bryan C. Heiderscheit, Greg Bashford
Department of Agricultural and Biological Systems Engineering: Faculty Publications
Background Ultrasound is a powerful tool for diagnostic purposes and provides insight into both normal and pathologic tissue structure. Spatial frequency analysis (SFA) methods characterize musculoskeletal tissue organization from ultrasound images. Both sonographers in clinical imaging and researchers may alter a minimized range of ultrasound settings to optimize image quality, and it is important to know how these small adjustments of these settings affect SFA parameters. The purpose of this study was to investigate the effects of making small adjustments in a typical default ultrasound machine setting on extracted spatial frequency parameters (peak spatial frequency radius (PSFR), Mmax, Mmax%, and …
2023 Fall Convocation Program, Morehead State University. Office Of Communications & Marketing.
2023 Fall Convocation Program, Morehead State University. Office Of Communications & Marketing.
Communications and Marketing Publications Archive
The 2023 Morehead State University Convocation Program from August 9, 2023.
Butte Priority Soils Operable Unit (Bpsou) Final Insufficiently Reclaimed Sites – Field Sampling Plan (Fsp) Bres No. 84 – Mandan Park Play Area, Mike Mcanulty
Silver Bow Creek/Butte Area Superfund Site
No abstract provided.
Apolipoprotein-Ε4 Is Associated With Higher Fecundity In A Natural Fertility Population, Benjamin Trumble, Mia Charifson, Tom Kraft, Angela R. Garcia, Daniel K. Cummings, Paul L. Hooper, Amanda J. Lea, Daniel Eid Rodriguez, Stephanie V. Koebele, Kenneth Buetow, Bret Beheim, Riana Minocher, Maguin Gutierrez, Gregory S. Thomas, Margaret Gatz, Jonathan Stieglitz, Caleb E. Finch, Hillard Kaplan, Michael Gurven
Apolipoprotein-Ε4 Is Associated With Higher Fecundity In A Natural Fertility Population, Benjamin Trumble, Mia Charifson, Tom Kraft, Angela R. Garcia, Daniel K. Cummings, Paul L. Hooper, Amanda J. Lea, Daniel Eid Rodriguez, Stephanie V. Koebele, Kenneth Buetow, Bret Beheim, Riana Minocher, Maguin Gutierrez, Gregory S. Thomas, Margaret Gatz, Jonathan Stieglitz, Caleb E. Finch, Hillard Kaplan, Michael Gurven
ESI Publications
In many populations, the apolipoprotein-ε4 (APOE-ε4) allele increases the risk for several chronic diseases of aging, including dementia and cardiovascular disease; despite these harmful effects at later ages, the APOE-ε4 allele remains prevalent. We assess the impact of APOE-ε4 on fertility and its proximate determinants (age at first reproduction, interbirth interval) among the Tsimane, a natural fertility population of forager-horticulturalists. Among 795 women aged 13 to 90 (20% APOE-ε4 carriers), those with at least one APOE-ε4 allele had 0.3 to 0.5 more children than (ε3/ε3) …
Real-World Experience Of Patients With Multiple Myeloma Receiving Ide-Cel After A Prior Bcma-Targeted Therapy, Christopher J Ferreri, Michelle A T Hildebrandt, Hamza Hashmi, Leyla O Shune, Joseph P Mcguirk, Douglas W Sborov, Charlotte B Wagner, M Hakan Kocoglu, Aaron Rapoport, Shebli Atrash, Peter M Voorhees, Jack Khouri, Danai Dima, Aimaz Afrough, Gurbakhash Kaur, Larry D Anderson, Gary Simmons, James A Davis, Nilesh Kalariya, Lauren C Peres, Yi Lin, Murali Janakiram, Omar Nadeem, Melissa Alsina, Frederick L Locke, Surbhi Sidana, Doris K Hansen, Krina K Patel, Omar Alexis Castaneda Puglianini
Real-World Experience Of Patients With Multiple Myeloma Receiving Ide-Cel After A Prior Bcma-Targeted Therapy, Christopher J Ferreri, Michelle A T Hildebrandt, Hamza Hashmi, Leyla O Shune, Joseph P Mcguirk, Douglas W Sborov, Charlotte B Wagner, M Hakan Kocoglu, Aaron Rapoport, Shebli Atrash, Peter M Voorhees, Jack Khouri, Danai Dima, Aimaz Afrough, Gurbakhash Kaur, Larry D Anderson, Gary Simmons, James A Davis, Nilesh Kalariya, Lauren C Peres, Yi Lin, Murali Janakiram, Omar Nadeem, Melissa Alsina, Frederick L Locke, Surbhi Sidana, Doris K Hansen, Krina K Patel, Omar Alexis Castaneda Puglianini
Faculty, Staff and Student Publications
Most patients with multiple myeloma experience disease relapse after treatment with a B-cell maturation antigen-targeted therapy (BCMA-TT), and data describing outcomes for patients treated with sequential BCMA-TT are limited. We analyzed clinical outcomes for patients infused with standard-of-care idecabtagene vicleucel, an anti-BCMA chimeric antigen receptor (CAR) T-cell therapy, at 11 US medical centers. A total of 50 patients with prior BCMA-TT exposure (38 antibody-drug conjugate, 7 bispecific, 5 CAR T) and 153 patients with no prior BCMA-TT were infused with ide-cel, with a median follow-up duration of 4.5 and 6.0 months, respectively. Safety outcomes between cohorts were comparable. The prior …
Defending Dobbs: Ending The Futile Search For A Constitutional Right To Abortion, Robert J. Pushaw, Jr.
Defending Dobbs: Ending The Futile Search For A Constitutional Right To Abortion, Robert J. Pushaw, Jr.
San Diego Law Review
In short, the Court is on the right track in cases like Dobbs by retreating from eccentric, unreviewable, common law policymaking and instead focusing on the Constitution itself.
Alas, average Americans, politicians, pundits, and even lawyers rarely read Court opinions but instead care only about whether they personally agree with the outcome, as the reaction to Dobbs illustrates. One can hardly blame them, as the Court’s constitutional opinions have often featured legal window dressing for results already reached on political or ideological grounds. Therefore, the current majority of Justices must illuminate the public about the Court’s proper role in interpreting …
Challenges To Environmental Impact Reports Under The California Environmental Quality Act: To Partially Decertify Or Not, That Is The Question, Andrew Dallas Kent
Challenges To Environmental Impact Reports Under The California Environmental Quality Act: To Partially Decertify Or Not, That Is The Question, Andrew Dallas Kent
San Diego Law Review
This Comment will provide (1) a background of CEQA and the importance of the EIR for decision-making; (2) a framework of the current split in the California Courts of Appeal as to whether an EIR can be partially decertified; (3) a breakdown on the current split; (4) an analysis of the potential impacts the split has on development projects; and (5) solutions that clarify a court’s remedies explicitly allowing partial decertification of an EIR under CEQA.
Enhancing Long-Term Outcomes: Implementing Community Engaged Research To Augment Substance Use Disorder Treatment, Kevin M. Quinn
Enhancing Long-Term Outcomes: Implementing Community Engaged Research To Augment Substance Use Disorder Treatment, Kevin M. Quinn
Masters Theses
The Universal Evaluation Tool is an intuitive self-assessment instrument to enhance long-term treatment outcomes for Guiding Light’s residential addiction rehabilitation program. Designed as a versatile method for collecting primary data, the Universal Evaluation Tool can be administered to clients at any point during the recovery program (i.e., intake to discharge). The data collected from the survey can be used as a framework to guide treatment decisions, develop personalized care plans, offer insight into a client’s progress, and collect baseline data (e.g., sociodemographic characteristics) on a treatment population for use in grant applications.
A pilot study to generate preliminary data was …
Assessing The Impact Of Daily Life Events On Depression Symptomatology And The Neural Correlates Of State & Trait Depression Within Resting-State Networks As Deduced By Probabilistic Functional Modes, Rosie Dutt
McKelvey School of Engineering Graduate Student Theses & Dissertations
In our everyday lives, we experience several life events that are either positive in nature (uplifting events) or irritating in nature (hassling events). Independently, these events may not impact an individual’s mood, but together they may accumulate to do so. As such, one would hypothesize that a greater number of hassles experienced would lead to a higher depression level, whilst a greater number of uplifts experienced would lead to a lower depression level. The first Aim of this thesis is to investigate the association between cumulative life events and depression using a linear regression model. The findings revealed that life …
Genetic Control Of Mrna Splicing As A Potential Mechanism For Incomplete Penetrance Of Rare Coding Variants, Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza De Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig P Hersh, Jill Johnsen, Robert Kaplan, Barbara A Konkle, Charles Kooperberg, Rami Nassir, Ruth J F Loos, Deborah A Meyers, Braxton D Mitchell, Bruce Psaty, Ramachandran S Vasan, Stephen S Rich, Michael Rienstra, Jerome I Rotter, Aabida Saferali, Moore Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium; Pejman Mohammadi, Pejman Mohammadi, Stephane E Castel, Ivan Iossifov, Tuuli Lappalainen
Genetic Control Of Mrna Splicing As A Potential Mechanism For Incomplete Penetrance Of Rare Coding Variants, Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza De Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig P Hersh, Jill Johnsen, Robert Kaplan, Barbara A Konkle, Charles Kooperberg, Rami Nassir, Ruth J F Loos, Deborah A Meyers, Braxton D Mitchell, Bruce Psaty, Ramachandran S Vasan, Stephen S Rich, Michael Rienstra, Jerome I Rotter, Aabida Saferali, Moore Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium; Pejman Mohammadi, Pejman Mohammadi, Stephane E Castel, Ivan Iossifov, Tuuli Lappalainen
Faculty, Staff and Student Publications
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-sequencing data in GTEx V8, we find that pathogenic alleles are depleted on highly included exons. Using a large-scale phased whole genome sequencing data from the TOPMed consortium, we observe that this effect may be driven by common splice-regulatory genetic variants, and that natural selection acts on haplotype configurations that reduce …
A De Novo Missense Variant In Ezh1 Associated With Developmental Delay Exhibits Functional Deficits In Drosophila Melanogaster, Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, Undiagnosed Diseases Network, Shinya Yamamoto, David A Sweetser, Michael F Wangler
A De Novo Missense Variant In Ezh1 Associated With Developmental Delay Exhibits Functional Deficits In Drosophila Melanogaster, Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, Undiagnosed Diseases Network, Shinya Yamamoto, David A Sweetser, Michael F Wangler
Faculty, Staff and Students Publications
EZH1, a polycomb repressive complex-2 component, is involved in a myriad of cellular processes. EZH1 represses transcription of downstream target genes through histone 3 lysine27 (H3K27) trimethylation (H3K27me3). Genetic variants in histone modifiers have been associated with developmental disorders, while EZH1 has not yet been linked to any human disease. However, the paralog EZH2 is associated with Weaver syndrome. Here we report a previously undiagnosed individual with a novel neurodevelopmental phenotype identified to have a de novo missense variant in EZH1 through exome sequencing. The individual presented in infancy with neurodevelopmental delay and hypotonia and was later noted to have …
Cytokine Profiles In Peruvian Pinnipeds And Their Relationships With Environmental Stressors, Mykenzee L. Munaco
Cytokine Profiles In Peruvian Pinnipeds And Their Relationships With Environmental Stressors, Mykenzee L. Munaco
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Large colonies of two vulnerable, sympatric pinniped species, Peruvian fur seals (Arctocephalus australis Peruvian subpopulation; PFS) and South American sea lions (Otaria byronia; SASL), reside and reproduce in Punta San Juan, Peru (PSJ) where they are exposed to stressors such as environmental contaminants and El Niño-Southern Oscillation (ENSO) events. Cytokine concentrations can be indicative of an animal’s health and immune function by allowing for immunoresponse characterization as Th1 or Th2 dominant. Utilizing an archived pinniped plasma collection of samples from 2009-2019 (n=148), 13 cytokines were analyzed in PFS and SASL: GM-CSF, IFN-γ, KC-like, MCP-1, TNF-α, IL-2, IL-6, …