Open Access. Powered by Scholars. Published by Universities.®
- Discipline
-
- Medicine and Health Sciences (342)
- Medical Specialties (236)
- Genetics (226)
- Medical Sciences (220)
- Biomedical Informatics (184)
-
- Medical Genetics (183)
- Biological Phenomena, Cell Phenomena, and Immunity (164)
- Medical Molecular Biology (158)
- Molecular Genetics (101)
- Genomics (93)
- Cell and Developmental Biology (87)
- Biology (86)
- Biochemistry, Biophysics, and Structural Biology (83)
- Ecology and Evolutionary Biology (81)
- Bioinformatics (77)
- Molecular Biology (69)
- Plant Sciences (61)
- Computational Biology (57)
- Animal Sciences (55)
- Diseases (54)
- Oncology (45)
- Physical Sciences and Mathematics (44)
- Agriculture (42)
- Cell Biology (40)
- Biochemistry (39)
- Public Health (36)
- Forest Sciences (34)
- Microbiology (32)
- Institution
-
- The Texas Medical Center Library (230)
- University of Kentucky (38)
- University of Nebraska - Lincoln (35)
- Utah State University (27)
- Thomas Jefferson University (18)
-
- University of South Florida (15)
- Clemson University (14)
- Virginia Commonwealth University (12)
- Old Dominion University (10)
- University of Arkansas, Fayetteville (10)
- University of South Carolina (10)
- West Virginia University (9)
- City University of New York (CUNY) (8)
- Rowan University (8)
- Dartmouth College (7)
- Illinois State University (7)
- University of Texas Rio Grande Valley (7)
- Chulalongkorn University (6)
- Louisiana State University (6)
- University of Connecticut (6)
- Brigham Young University (5)
- Chapman University (5)
- Chinese Academy of Sciences (5)
- Jacksonville State University (5)
- Portland State University (5)
- University of Denver (5)
- University of Louisville (5)
- University of Nebraska Medical Center (5)
- University of Nevada, Las Vegas (5)
- University of New Mexico (5)
- Keyword
-
- Humans (152)
- Female (68)
- Animals (67)
- Male (59)
- Genomics (39)
-
- Genetics (35)
- Child (31)
- Mice (31)
- Phenotype (29)
- Mutation (25)
- Adult (23)
- Polymorphism (20)
- DNA (19)
- Genome (18)
- Middle Aged (18)
- Polymorphism, Single Nucleotide (18)
- Adolescent (17)
- Genome-Wide Association Study (17)
- Single Nucleotide (17)
- Child, Preschool (15)
- Preschool (15)
- Drosophila (14)
- Gene Expression Regulation (14)
- Genetic Predisposition to Disease (14)
- Human (14)
- RNA (14)
- Bioinformatics (13)
- Cancer (13)
- Epigenetics (13)
- Genetic (13)
- Publication
-
- Faculty, Staff and Students Publications (160)
- Faculty, Staff and Student Publications (42)
- Dissertations and Theses (Open Access) (28)
- Aspen Bibliography (26)
- Department of Animal Science: Faculty Publications (22)
-
- Theses and Dissertations (22)
- Markey Cancer Center Faculty Publications (14)
- All Dissertations (11)
- USF Tampa Graduate Theses and Dissertations (11)
- Graduate Theses, Dissertations, and Problem Reports (ETD) (9)
- Dartmouth College Ph.D Dissertations (7)
- Electronic Theses and Dissertations (7)
- Rowan-Virtua School of Osteopathic Medicine Departmental Research (7)
- Senior Theses – Biological Sciences (7)
- Entomology Faculty Publications (6)
- Theses (6)
- Bulletin of Chinese Academy of Sciences (Chinese Version) (5)
- Department of Pathology, Anatomy, and Cell Biology Faculty Papers (5)
- Dissertations, Theses, and Capstone Projects (5)
- Honors Scholar Theses (5)
- Library/Life Sciences Undergraduate Poster Competition 2024 (5)
- The Philippine Agricultural Scientist (5)
- Theses & Dissertations (5)
- Articles, Abstracts, and Reports (4)
- Biological Sciences Theses and Dissertations (4)
- Biology Dissertations - Archive (4)
- Chulalongkorn University Theses and Dissertations (Chula ETD) (4)
- Dissertations, Master's Theses and Master's Reports (4)
- FRONTIERS UNBOUND: Exploring Extreme Environments (4)
- LSU Doctoral Dissertations (4)
- Publication Type
- File Type
Articles 391 - 420 of 688
Full-Text Articles in Genetics and Genomics
Sustainability And Drivers Of Populus Tremuloides Regeneration And Recruitment Near The Southwestern Edge Of Its Range, Connor D. Crouch, Nicholas P. Wilhelmi, Paul C. Rogers, Margaret M. Moore, Kristen M. Waring
Sustainability And Drivers Of Populus Tremuloides Regeneration And Recruitment Near The Southwestern Edge Of Its Range, Connor D. Crouch, Nicholas P. Wilhelmi, Paul C. Rogers, Margaret M. Moore, Kristen M. Waring
Aspen Bibliography
Quaking aspen (Populus tremuloides Michx.) ecosystems are highly valued in the southwestern United States because of the ecological, economic, and aesthetic benefits they provide. Aspen has experienced extensive mortality in recent decades, and there is evidence that many areas in Arizona, United States lack adequate recruitment to replace dying overstory trees. Maintaining sustainable levels of regeneration and recruitment (i.e. juveniles) is critical for promoting aspen ecosystem resilience and adaptive capacity, but questions remain about which factors currently limit juvenile aspen and which strategies are appropriate for managing aspen in an increasingly uncertain future. To fill these critical knowledge gaps, …
Edna Metabarcoding And The Construction Of Primers For The Identification Of Gulf Of Mexico Elasmobranchs And Selachii, Isabella Lima
Edna Metabarcoding And The Construction Of Primers For The Identification Of Gulf Of Mexico Elasmobranchs And Selachii, Isabella Lima
Honors Projects
eDNA, or environmental DNA, is found free-existing in any environment. It can be extracted from its environment and used to identify organisms that were recently in the area. In recent years, eDNA metabarcoding has been used to help examine communities for overall species presence and biodiversity. This capstone sought to create a mock proposal for an eDNA survey of Gulf of Mexico elasmobranch and Selachii species due to their overall decline in numbers. Additionally, general and discriminatory PCR primers were created in-silico and assessed for initial quality. This capstone documents the feasibility of an eDNA study, constructing the necessary primers, …
An Approach To Identify Gene-Environment Interactions And Reveal New Biological Insight In Complex Traits, Xiaofeng Zhu, Yihe Yang, Noah Lorincz-Comi, Gen Li, Amy R Bentley, Paul S De Vries, Michael Brown, Alanna C Morrison, Charles N Rotimi, W James Gauderman, Dabeeru C Rao, Hugues Aschard
An Approach To Identify Gene-Environment Interactions And Reveal New Biological Insight In Complex Traits, Xiaofeng Zhu, Yihe Yang, Noah Lorincz-Comi, Gen Li, Amy R Bentley, Paul S De Vries, Michael Brown, Alanna C Morrison, Charles N Rotimi, W James Gauderman, Dabeeru C Rao, Hugues Aschard
Faculty, Staff and Student Publications
There is a long-standing debate about the magnitude of the contribution of gene-environment interactions to phenotypic variations of complex traits owing to the low statistical power and few reported interactions to date. to address this issue, the Gene-Lifestyle Interactions Working Group within the Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium has been spearheading efforts to investigate G × E in large and diverse samples through meta-analysis. Here, we present a powerful new approach to screen for interactions across the genome, an approach that shares substantial similarity to the Mendelian randomization framework. We identify and confirm 5 loci …
Differential Behavioral Responses In Male And Female Mice Lacking Either Rgs2 Or Rgs4 Proteins After Acute Administration Of Antidepressants And Anxiolytics, Hiroyoshi Matsui, Sarah Seeley, Manoranjan S. D'Souza
Differential Behavioral Responses In Male And Female Mice Lacking Either Rgs2 Or Rgs4 Proteins After Acute Administration Of Antidepressants And Anxiolytics, Hiroyoshi Matsui, Sarah Seeley, Manoranjan S. D'Souza
ONU Student Research Colloquium
The overall objective of the study was to assess the acute behavioral effects of currently used antidepressants and anxiolytics in male and female mice lacking regulator of G protein-signaling (RGS) proteins 2 and 4 and their wild-type counterparts. RGS 2 and 4 proteins negatively modulate signaling pathways of G protein-coupled receptors (GPCRs), which play an important role in mediating the effects of monoamine neurotransmitters such as dopamine, norepinephrine, and serotonin. These neurotransmitters in turn play an important role in the action of antidepressant and anxiolytic medications. The study was undertaken because no studies till date have systematically assessed the behavioral …
Cdk8/Cdk19 Promotes Mitochondrial Fission Through Drp1 Phosphorylation And Can Phenotypically Suppress Pink1 Deficiency In Drosophila, Jenny Zhe Liao, Hyung-Lok Chung, Claire Shih, Kenneth Kin Lam Wong, Debdeep Dutta, Zelha Nil, Catherine Grace Burns, Oguz Kanca, Ye-Jin Park, Zhongyuan Zuo, Paul C Marcogliese, Katherine Sew, Hugo J Bellen, Esther M Verheyen
Cdk8/Cdk19 Promotes Mitochondrial Fission Through Drp1 Phosphorylation And Can Phenotypically Suppress Pink1 Deficiency In Drosophila, Jenny Zhe Liao, Hyung-Lok Chung, Claire Shih, Kenneth Kin Lam Wong, Debdeep Dutta, Zelha Nil, Catherine Grace Burns, Oguz Kanca, Ye-Jin Park, Zhongyuan Zuo, Paul C Marcogliese, Katherine Sew, Hugo J Bellen, Esther M Verheyen
Faculty, Staff and Students Publications
Cdk8 in Drosophila is the orthologue of vertebrate CDK8 and CDK19. These proteins have been shown to modulate transcriptional control by RNA polymerase II. We found that neuronal loss of Cdk8 severely reduces fly lifespan and causes bang sensitivity. Remarkably, these defects can be rescued by expression of human CDK19, found in the cytoplasm of neurons, suggesting a non-nuclear function of CDK19/Cdk8. Here we show that Cdk8 plays a critical role in the cytoplasm, with its loss causing elongated mitochondria in both muscles and neurons. We find that endogenous GFP-tagged Cdk8 can be found in both the cytoplasm and nucleus. …
Annotation Of Hypothetical Genes In Lactococcus Lactis Ssp. Il403, Jennifer A. Tangires
Annotation Of Hypothetical Genes In Lactococcus Lactis Ssp. Il403, Jennifer A. Tangires
Student Scholar Showcase
The human gastrointestinal tract (GIT) harnesses various microbial organisms involved in almost all processes of physiological homeostasis, among these are lactic acid bacteria (LAB). These bacteria, almost all of which belong to the order Lactobacillales, are able to produce lactic acid, and play an important role in food preservation because they produce bacteriocins. Bacteriocins are antimicrobial proteins that are used to fight off related bacteria in their environment that are competing for the same resources. This study focuses on a specific LAB strain, Lactococcus lactis ssp. IL1403 where 21.9% of its predicted genes have not yet been assigned a function. …
Tissue-Specific Atlas Of Trans-Models For Gene Regulation Elucidates Complex Regulation Patterns, Robert Dagostino, Assaf Gottlieb
Tissue-Specific Atlas Of Trans-Models For Gene Regulation Elucidates Complex Regulation Patterns, Robert Dagostino, Assaf Gottlieb
Faculty, Staff and Student Publications
BACKGROUND: Deciphering gene regulation is essential for understanding the underlying mechanisms of healthy and disease states. While the regulatory networks formed by transcription factors (TFs) and their target genes has been mostly studied with relation to cis effects such as in TF binding sites, we focused on trans effects of TFs on the expression of their transcribed genes and their potential mechanisms.
RESULTS: We provide a comprehensive tissue-specific atlas, spanning 49 tissues of TF variations affecting gene expression through computational models considering two potential mechanisms, including combinatorial regulation by the expression of the TFs, and by genetic variants within the …
Multilocus Pathogenic Variants Contribute To Intrafamilial Clinical Heterogeneity: A Retrospective Study Of Sibling Pairs With Neurodevelopmental Disorders, Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, James R Lupski, Zeynep Coban-Akdemir
Multilocus Pathogenic Variants Contribute To Intrafamilial Clinical Heterogeneity: A Retrospective Study Of Sibling Pairs With Neurodevelopmental Disorders, Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, James R Lupski, Zeynep Coban-Akdemir
Faculty, Staff and Students Publications
BACKGROUND: Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilial phenotypic variability between affected individuals within a nuclear family. In this study, we aim to gain further insights into the influence of MPVs on a disease manifestation in individual research subjects and explore the complexities of the human genome within a familial context.
METHODS: We conducted a systematic reanalysis of exome sequencing data and runs of homozygosity (ROH) regions of 47 sibling pairs previously diagnosed with various neurodevelopmental disorders (NDD). …
Unravelling The Genetic Basis Of Schizophrenia, Clara Casey, John F. Fullard, Roy D. Sleator
Unravelling The Genetic Basis Of Schizophrenia, Clara Casey, John F. Fullard, Roy D. Sleator
Department of Biological Sciences Publications
Neuronal development is a highly regulated mechanism that is central to organismal function in animals. In humans, disruptions to this process can lead to a range of neurodevelopmental phenotypes, including Schizophrenia (SCZ). SCZ has a significant genetic component, whereby an individual with an SCZ affected family member is eight times more likely to develop the disease than someone with no family history of SCZ. By examining a combination of genomic, transcriptomic and epigenomic datasets, large-scale ‘omics’ studies aim to delineate the relationship between genetic variation and abnormal cellular activity in the SCZ brain. Herein, we provide a brief overview of …
Comparative Genomics Of Selected Lactobacillus Helveticus Strains, Cain Petty
Comparative Genomics Of Selected Lactobacillus Helveticus Strains, Cain Petty
Undergraduate Research Conference
My research is to compare two strains (D76 and H10) of Lactobacillus helveticus and a shared gene between them. I would want to experiment with overexpression to test for any difference in the regulatory function of genes associated with CggR - the central glycolytic genes regulator. The poster I am presenting would outline this and provide a clearer understanding of genes and potential overexpression.
Structural Basis Of Dna Crossover Capture By Escherichia Coli Dna Gyrase, Marlène Vayssières, Nils Marechal, Long Yun, Brian Lopez Duran, Naveen Kumar Murugasamy, Jonathan M Fogg, Lynn Zechiedrich, Marc Nadal, Valérie Lamour
Structural Basis Of Dna Crossover Capture By Escherichia Coli Dna Gyrase, Marlène Vayssières, Nils Marechal, Long Yun, Brian Lopez Duran, Naveen Kumar Murugasamy, Jonathan M Fogg, Lynn Zechiedrich, Marc Nadal, Valérie Lamour
Faculty, Staff and Students Publications
DNA supercoiling must be precisely regulated by topoisomerases to prevent DNA entanglement. The interaction of type IIA DNA topoisomerases with two DNA molecules, enabling the transport of one duplex through the transient double-stranded break of the other, remains elusive owing to structures derived solely from single linear duplex DNAs lacking topological constraints. Using cryo–electron microscopy, we solved the structure of Escherichia coli DNA gyrase bound to a negatively supercoiled minicircle DNA. We show how DNA gyrase captures a DNA crossover, revealing both conserved molecular grooves that accommodate the DNA helices. Together with molecular tweezer experiments, the structure shows that the …
Enhancement Of Applied Rice Breeding Programs: Exploring Factors Impacting Genomic Selection Accuracy And Discovery Of A Novel Gene For Grain Shape, Maria G. Montiel
Enhancement Of Applied Rice Breeding Programs: Exploring Factors Impacting Genomic Selection Accuracy And Discovery Of A Novel Gene For Grain Shape, Maria G. Montiel
LSU Doctoral Dissertations
Plant breeding is a crucial tool in addressing global challenges such as climate change, population growth, and the need for more resilient crops. Rice serves as a staple food for a significant portion of the global population and has served as a model crop for genetic and genomic studies. Genomic selection (GS) has become valuable tool in plant breeding, allowing breeders to predict breeding lines’ performance based on their genotypes. The training (TS) set is a central component of genomic selection and the optimization of the training set is crucial for efficient implementation of genomic selection. The first two objectives …
Cd24 Negativity Reprograms Mitochondrial Metabolism To Pparα And Nf-Κb-Driven Fatty Acid Β-Oxidation In Triple-Negative Breast Cancer, Divya Murthy, Debasmita Dutta, Kuldeep S Attri, Tagari Samanta, Sukjin Yang, Kwang Hwa Jung, Sarah G Latario, Vasanta Putluri, Shixia Huang, Nagireddy Putluri, Jun Hyoung Park, Benny Abraham Kaipparettu
Cd24 Negativity Reprograms Mitochondrial Metabolism To Pparα And Nf-Κb-Driven Fatty Acid Β-Oxidation In Triple-Negative Breast Cancer, Divya Murthy, Debasmita Dutta, Kuldeep S Attri, Tagari Samanta, Sukjin Yang, Kwang Hwa Jung, Sarah G Latario, Vasanta Putluri, Shixia Huang, Nagireddy Putluri, Jun Hyoung Park, Benny Abraham Kaipparettu
Faculty, Staff and Students Publications
CD24 is a well-characterized breast cancer (BC) stem cell (BCSC) marker. Primary breast tumor cells having CD24-negativity together with CD44-positivity is known to maintain high metastatic potential. However, the functional role of CD24 gene in triple-negative BC (TNBC), an aggressive subtype of BC, is not well understood. While the significance of CD24 in regulating immune pathways is well recognized in previous studies, the significance of CD24 low expression in onco-signaling and metabolic rewiring is largely unknown. Using CD24 knock-down and over-expression TNBC models, our in vitro and in vivo analysis suggest that CD24 is a tumor suppressor in metastatic TNBC. …
"The Relevant History And Medical And Ethical Future Viability Of Xenotransplantation", Morgan Janes
"The Relevant History And Medical And Ethical Future Viability Of Xenotransplantation", Morgan Janes
Augustana Center for the Study of Ethics Essay Contest
Xenotransplantation, the transplantation of organs or tissues from one species to another, presents a complex nexus of medical, ethical, and cultural considerations. In this article, we delve into the multifaceted landscape of xenotransplantation, beginning with a thorough examination of its relevant historical trajectory. From early experiments to recent advancements, we chart the evolution of this field, setting the stage for a nuanced discussion. We then confront the central issue: the true medical viability of xenotransplantation and the looming specter of operative risk. By scrutinizing the ethical dilemmas inherent in xenotransplantation through a multicultural lens, we illuminate the diverse perspectives that …
Unsupervised Deep Representation Learning Enables Phenotype Discovery For Genetic Association Studies Of Brain Imaging, Khush Patel, Ziqian Xie, Hao Yuan, Sheikh Muhammad Saiful Islam, Yaochen Xie, Wei He, Wanheng Zhang, Assaf Gottlieb, Han Chen, Luca Giancardo, Alexander Knaack, Evan Fletcher, Myriam Fornage, Shuiwang Ji, Degui Zhi
Unsupervised Deep Representation Learning Enables Phenotype Discovery For Genetic Association Studies Of Brain Imaging, Khush Patel, Ziqian Xie, Hao Yuan, Sheikh Muhammad Saiful Islam, Yaochen Xie, Wei He, Wanheng Zhang, Assaf Gottlieb, Han Chen, Luca Giancardo, Alexander Knaack, Evan Fletcher, Myriam Fornage, Shuiwang Ji, Degui Zhi
Faculty, Staff and Student Publications
Understanding the genetic architecture of brain structure is challenging, partly due to difficulties in designing robust, non-biased descriptors of brain morphology. Until recently, brain measures for genome-wide association studies (GWAS) consisted of traditionally expert-defined or software-derived image-derived phenotypes (IDPs) that are often based on theoretical preconceptions or computed from limited amounts of data. Here, we present an approach to derive brain imaging phenotypes using unsupervised deep representation learning. We train a 3-D convolutional autoencoder model with reconstruction loss on 6130 UK Biobank (UKBB) participants' T1 or T2-FLAIR (T2) brain MRIs to create a 128-dimensional representation known as Unsupervised Deep learning …
De Novo Variants In Fryl Are Associated With Developmental Delay, Intellectual Disability, And Dysmorphic Features, Xueyang Pan, Alice M Tao, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Rachel Slaugh, Sarah Drewes Williams, Lauren O'Grady, Oguz Kanca, Richard Person, Melissa T Carter, Konrad Platzer, Franziska Schnabel, Rami Abou Jamra, Amy E Roberts, Jane W Newburger, Anya Revah-Politi, Jorge L Granadillo, Alexander P A Stegmann, Margje Sinnema, Andrea Accogli, Vincenzo Salpietro, Valeria Capra, Lina Ghaloul-Gonzalez, Martina Brueckner, Marleen E H Simon, David A Sweetser, Kevin E Glinton, Susan E Kirk, Baylor College Of Medicine Center For Precision Medicine Models, Michael F Wangler, Shinya Yamamoto, Wendy K Chung, Hugo J Bellen
De Novo Variants In Fryl Are Associated With Developmental Delay, Intellectual Disability, And Dysmorphic Features, Xueyang Pan, Alice M Tao, Shenzhao Lu, Mengqi Ma, Shabab B Hannan, Rachel Slaugh, Sarah Drewes Williams, Lauren O'Grady, Oguz Kanca, Richard Person, Melissa T Carter, Konrad Platzer, Franziska Schnabel, Rami Abou Jamra, Amy E Roberts, Jane W Newburger, Anya Revah-Politi, Jorge L Granadillo, Alexander P A Stegmann, Margje Sinnema, Andrea Accogli, Vincenzo Salpietro, Valeria Capra, Lina Ghaloul-Gonzalez, Martina Brueckner, Marleen E H Simon, David A Sweetser, Kevin E Glinton, Susan E Kirk, Baylor College Of Medicine Center For Precision Medicine Models, Michael F Wangler, Shinya Yamamoto, Wendy K Chung, Hugo J Bellen
Faculty, Staff and Students Publications
FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are largely unknown, and variants in FRYL have not previously been associated with a Mendelian disease. Here, we report fourteen individuals with heterozygous variants in FRYL who present with developmental delay, intellectual disability, dysmorphic features, and other congenital anomalies in multiple systems. The variants are confirmed de novo in all individuals except one. Human genetic data suggest that FRYL is intolerant to loss of function (LoF). We find that the fly FRYL ortholog, furry (fry), is …
Bi-Allelic Acbd6 Variants Lead To A Neurodevelopmental Syndrome With Progressive And Complex Movement Disorders, Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Bi-Allelic Acbd6 Variants Lead To A Neurodevelopmental Syndrome With Progressive And Complex Movement Disorders, Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Faculty, Staff and Students Publications
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with myristic acid alkyne …
Hira Gene Mutation In Arabidopsis Via Crispr, Kelly Chen, Claire Shippy, Tara Phelps-Durr
Hira Gene Mutation In Arabidopsis Via Crispr, Kelly Chen, Claire Shippy, Tara Phelps-Durr
SACAD: Scholarly Activities
The purpose of this study is to mutate the Histone Repressor A (HIRA) gene in a mustard plant (Arabidopsis) using CRISPR technology. HIRA is a chromatin-remodeling protein that is required for proper development in both plants and animals. Creating new changes (mutations) in HIRA will help us better understand the mechanism of how HIRA regulates transcription, which is important for understanding developmental disorders in animals, as well as how improper development leads to a reduction in crop yields in plants
Where Have All The Flowers Gone? A Call For Federal Leadership In Deer Management In The United States, Bernd Blossey, Darragh Hare, Donald M. Waller
Where Have All The Flowers Gone? A Call For Federal Leadership In Deer Management In The United States, Bernd Blossey, Darragh Hare, Donald M. Waller
Aspen Bibliography
Forests in the United States continue to lose biodiversity and many fail to regenerate due to high deer (family Cervidae) abundance. Declines in biodiversity and overall ecosystem health due to high deer populations increases prevalence of wildlife and human diseases associated with increasing tick abundances and decreases forest resilience and the ability to deliver benefits provided by healthy ecosystems. In the eastern and midwestern United States, white-tailed deer (Odocoileus virginianus) are the main stressor, while in the western U.S. elk (Cervus elaphus) and black-tailed and mule deer (Odocoileus hemionus) can become equally problematic. Federal …
Swine Influenza A Virus: Challenges And Novel Vaccine Strategies, Erika M. Petro-Turnquist, Matthew J. Pekarek, Eric A. Weaver
Swine Influenza A Virus: Challenges And Novel Vaccine Strategies, Erika M. Petro-Turnquist, Matthew J. Pekarek, Eric A. Weaver
Nebraska Center for Virology: Faculty Publications
Swine Influenza A Virus (IAV-S) imposes a significant impact on the pork industry and has been deemed a significant threat to global public health due to its zoonotic potential. The most effective method of preventing IAV-S is vaccination. While there are tremendous efforts to control and prevent IAV-S in vulnerable swine populations, there are considerable challenges in developing a broadly protective vaccine against IAV-S. These challenges include the consistent diversification of IAV-S, increasing the strength and breadth of adaptive immune responses elicited by vaccination, interfering maternal antibody responses, and the induction of vaccine-associated enhanced respiratory disease after vaccination. Current vaccination …
Nodal Variants Are Associated With A Continuum Of Laterality Defects From Simple D-Transposition Of The Great Arteries To Heterotaxy, Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R Lupski, Zeynep Coban-Akdemir, Shaine A Morris
Nodal Variants Are Associated With A Continuum Of Laterality Defects From Simple D-Transposition Of The Great Arteries To Heterotaxy, Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R Lupski, Zeynep Coban-Akdemir, Shaine A Morris
Faculty, Staff and Student Publications
BACKGROUND: NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects.
METHODS: We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses. To this cohort we added 12 affected subjects with …
Gabaergic/Glycinergic And Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes Of Stxbp1 Encephalopathy, Joo Hyun Kim, Wu Chen, Eugene S Chao, Armando Rivera, Heet Naresh Kaku, Kevin Jiang, Dongwon Lee, Hongmei Chen, Jaimie M Vega, Teresa V Chin, Kevin Jin, Kelly T Nguyen, Sheldon S Zou, Zain Moin, Shawn Nguyen, Mingshan Xue 薛名杉
Gabaergic/Glycinergic And Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes Of Stxbp1 Encephalopathy, Joo Hyun Kim, Wu Chen, Eugene S Chao, Armando Rivera, Heet Naresh Kaku, Kevin Jiang, Dongwon Lee, Hongmei Chen, Jaimie M Vega, Teresa V Chin, Kevin Jin, Kelly T Nguyen, Sheldon S Zou, Zain Moin, Shawn Nguyen, Mingshan Xue 薛名杉
Faculty, Staff and Students Publications
An increasing number of pathogenic variants in presynaptic proteins involved in the synaptic vesicle cycle are being discovered in neurodevelopmental disorders. The clinical features of these synaptic vesicle cycle disorders are diverse, but the most prevalent phenotypes include intellectual disability, epilepsy, movement disorders, cerebral visual impairment, and psychiatric symptoms ( Verhage and Sørensen, 2020; Bonnycastle et al., 2021; John et al., 2021; Melland et al., 2021). Among this growing list of synaptic vesicle cycle disorders, the most frequent is STXBP1 encephalopathy caused by de novo heterozygous pathogenic variants in syntaxin-binding protein 1 (STXBP1, also known as …
The Plant Disease Triangle Facing Climate Change: A Molecular Perspective, Charles Roussin-Léveillée, Christina A. M. Rossi, Christian Castroverde, Peter Moffett
The Plant Disease Triangle Facing Climate Change: A Molecular Perspective, Charles Roussin-Léveillée, Christina A. M. Rossi, Christian Castroverde, Peter Moffett
Biology Faculty Publications
No abstract provided.
Search, The Jackson Laboratory
Population Genomics Provide Insight Into Ancestral Relationships And Diversity Of The Feral Horses Of Theodore Roosevelt National Park, Melissa A. Thompson, Blake E. Mccann, Turk Rhen, Rebecca Simmons
Population Genomics Provide Insight Into Ancestral Relationships And Diversity Of The Feral Horses Of Theodore Roosevelt National Park, Melissa A. Thompson, Blake E. Mccann, Turk Rhen, Rebecca Simmons
Biology Faculty Publications
Theodore Roosevelt National Park (TRNP) manages a herd of feral horses (Equus caballus) which was present on the landscape prior to the establishment of the park. The population presents a unique scenario in that it has experienced fairly intensive and well-documented management since the park's establishment, including herd size reductions, intentional introduction of diversity, and subsequent attempts to remove introduced lineages. This provides an interesting case study on the genetic effects of diverse evolutionary forces on an isolated feral population. To explore the effects of these forces and clarify the relationship of this feral herd with other horses, …
Investigating The Role Of The Dna Interval V376 On Sk-3 Spore Killing In Neurospora Crassa, John C. Munn Iv
Investigating The Role Of The Dna Interval V376 On Sk-3 Spore Killing In Neurospora Crassa, John C. Munn Iv
Senior Theses – Biological Sciences
In Neurospora fungi, the ascospores formed during reproduction will most often be black and viable. Occasionally, these ascospores will end up inviable and white or yellow. The discovery of a selfish genetic element called Spore killer (Sk) in 1979 gave researchers insight into a mechanism that causes some Neurospora crosses to produce a consistent ratio of 4 black, viable ascospores and 4 inviable, white ascospores. In these 4:4 splits, the Spore killer genetic element causes the death of exactly half of the ascospores. There are now three known spore killers in Neurospora: Sk-1, Sk-2, and Sk-3 …
Investigating The Role Of Dna Interval V375 In Spore Killing By Neurospora Crassa Sk-3, Michael Marcheschi
Investigating The Role Of Dna Interval V375 In Spore Killing By Neurospora Crassa Sk-3, Michael Marcheschi
Senior Theses – Biological Sciences
Meiotic drive elements, sometimes called selfish genes, are genetic elements that are passed on to their offspring more favorably than other genes. Meiotic drive elements have been observed in many organisms, including fungi of the Neurospora genus. Three different meiotic drive elements, called Spore killers, have been identified in Neurospora fungi. One of these Spore killers is called Spore killer 3 (Sk-3), and the molecular mechanism by which Sk-3 acts as a meiotic drive element is poorly understood. Previous work has identified a genetic locus within Sk-3 that may control spore killing. In this thesis, I investigate an …
Studying A Spore Killing Gene In Neurospora Crassa, Jalen Lee
Studying A Spore Killing Gene In Neurospora Crassa, Jalen Lee
Senior Theses – Biological Sciences
Some isolates of the fungus Neurospora crassa possess a chromosomal factor that causes spore killing, leading to death of ascospores. It has been shown that these chromosomal factors are genetic elements called spore killers. For example, if a cross is performed between a parent with an Sk-S (sensitive) allele and a parent with an Sk-K (killer) allele, the cross will produce half viable offspring and half inviable offspring, where the inviable half has been killed by spore killing. This phenomenon can be explained by meiotic drive, wherein a selfish gene disrupts the randomness of sexual transmission, favoring its own success. …
Neurotensin Modulates Ovarian Vascular Permeability Via Adherens Junctions, Andrew Pearson, Ketan Shrestha, Thomas E. Curry, Diane M. Duffy
Neurotensin Modulates Ovarian Vascular Permeability Via Adherens Junctions, Andrew Pearson, Ketan Shrestha, Thomas E. Curry, Diane M. Duffy
UK CARES Faculty Publications
Neurotensin (NTS) is a 13-amino acid peptide which is highly expressed in the mammalian ovary in response to the luteinizing hormone surge. Antibody neutralization of NTS in the ovulatory follicle of the cynomolgus macaque impairs ovulation and induces follicular vascular dysregulation, with excessive pooling of red blood cells in the follicle antrum. We hypothesize that NTS is an essential intrafollicular regulator of vascular permeability. In the present study, follicle injection of the NTS receptor antagonist SR142948 also resulted in vascular dysregulation. To measure vascular permeability changes in vitro, primary macaque ovarian microvascular endothelial cells (mOMECs) were enriched from follicle aspirates …
Rainwater Harvesting Systems Metagenomics, Jade Riddle, Julia Parsons
Rainwater Harvesting Systems Metagenomics, Jade Riddle, Julia Parsons
Spring Showcase for Research and Creative Inquiry
Climate change induced water scarcity has led to an increasing interest in non-traditional water sources such as rainwater. However, there are lingering health and safety concerns due to the lack of research into the microbial communities contained within collection systems. To address this gap, water samples were collected from rain barrels around northern Virginia for microbial analysis. Each microbe within the sample has a unique genome subject to DNA testing. Environmental DNA was prepared from the collected water samples. To characterize the microbial community, both targeted sequencing and whole genome sequencing approaches were used. Using targeted sequencing of the 16s …