Understanding The Impact Of Human Germline Single-Nucleotide Variants,
2022
South Dakota State University
Understanding The Impact Of Human Germline Single-Nucleotide Variants, Samuel Adjei
Electronic Theses and Dissertations
All genetic variations in the human genome are due to mutations, and therefore determining the impact of the different categories of mutations, particularly nonsynonymous single nucleotide variants (SNVs) which are the most abundant in the population is essential for understanding the genetics of human diseases. Generations of mutation studies have focused on a relatively small number, partly due to technological limitations. However, advances in next-generation sequencing have allowed for empirical assessments of genome-wide mutations. genome sequence of any individual contains extensive protein-altering genetic variation (missense mutations) and of which only a few are unambiguously deleterious. Characterizing the phenotypes of these …
Effects Of Buried Wood On The Development Of Populus Tremuloides On Various Oil Sands Reclamation Soils,
2022
University of Alberta
Effects Of Buried Wood On The Development Of Populus Tremuloides On Various Oil Sands Reclamation Soils, Kaitlyn E. Trepanier, Laura Manchola-Rojas, Bradley D. Pinno
Aspen Bibliography
Buried wood is an important but understudied component of reclamation soils. We examined the impacts of buried wood amounts and species on the growth of the common reclamation tree species trembling aspen (Populus tremuloides). In a greenhouse study, aspen seedlings were planted into four soil types, upland derived fine forest floor-mineral mix (fFFMM), coarse forest floor-mineral mix (cFFMM), and lowland derived peat and peat-mineral mix (PMM), that were mixed with either aspen or pine wood shavings at four concentrations (0%, 10%, 20% and 50% of total volume). Height and diameter growth, chlorophyll concentration, and leaf and stem biomass were measured. …
Role Of Micrornas In Non-Functioning Pituitary Adenoma,
2022
Aga Khan University
Role Of Micrornas In Non-Functioning Pituitary Adenoma, Mehak Ismail Rajani, Yumna Mirza, Rohan Advani, Syed Muhammad Adnan Ali, Ather Enam
Centre for Innovation in Medical Education
Non-functioning pituitary adenomas account for 30% of anterior pituitary tumours. Based on their inability to secrete hormones, these are often diagnosed incidentally or due to pressure symptoms. Understanding the pathogenesis of these adenomas can provide insight into factors leading to its progression and serving as biomarkers for early recognition. A literature search was performed in the current narrative review for articles published in PubMed for the last 10 years till January 2020 on micro-ribonucleic acid involved in the pathogenesis of non-functioning pituitary adenomas. Of the 478 articles found, 21(4.4%) were filtered. In total, 106 micro-ribonucleic acids were identified, 25(23.5%) of …
Sex Dimorphism In Hematopoiesis And Bone Marrow Niche,
2022
University of Kentucky
Sex Dimorphism In Hematopoiesis And Bone Marrow Niche, Xiaojing Cui
Theses and Dissertations--Toxicology and Cancer Biology
Hematopoietic stem cells (HSC), which are a rare population of cells existing in human circulating blood and bone marrow, can form the whole-blood system by their self-renewal capacity and differentiation ability. Sex dimorphism can be found in hematopoietic stem and progenitor cells, and in the development of hematopoietic lineages. Also, males are at higher risk and have a worse prognosis for most hematologic malignancies than females. Under normal conditions, the number of circulating progenitor cells in women is lower than in men. Furthermore, female mice have a higher rate of HSC division than male mice. A dramatic gender difference exists …
Expanding Mouse-Adapted Yamagata-Like Influenza B Viruses
In Eggs Enhances In Vivo Lethality In Balb/C Mice,
2022
University of Nebraska-Lincoln
Expanding Mouse-Adapted Yamagata-Like Influenza B Viruses In Eggs Enhances In Vivo Lethality In Balb/C Mice, Matthew J. Pekarek, Erika M. Petro-Turnquist, Adam Rubrum, Richard J. Webby, Eric A. Weaver
Nebraska Center for Virology: Faculty Publications
Despite the yearly global impact of influenza B viruses (IBVs), limited host range has been a hurdle to developing a readily accessible small animal disease model for vaccine studies. Mouseadapting IBV can produce highly pathogenic viruses through serial lung passaging in mice. Previous studies have highlighted amino acid changes throughout the viral genome correlating with increased pathogenicity, but no consensus mutations have been determined. We aimed to show that growth system can play a role in mouse-adapted IBV lethality. Two Yamagata-lineage IBVs were serially passaged 10 times in mouse lungs before expansion in embryonated eggs or Madin–Darby canine kidney cells …
Screening Ocean Samples From Georgia For The Presence Of Msx And Dermo Using Pcr And Qpcr Methods,
2022
University of New Hampshire
Screening Ocean Samples From Georgia For The Presence Of Msx And Dermo Using Pcr And Qpcr Methods, Olivia Michelle Williams
Honors Theses and Capstones
This Senior Thesis project aimed to be able to screen samples that came in from a PhD student in Georgia for the presence of two oyster diseases, MSX and Dermo. This study was done using PCR followed by visualizing on E-gels for initial presence of disease. These were then followed by qPCR and visualization on Criterion gels. These Criterion gels were able to be analyzed in order to calculate the pg/uL of MSX and Dermo in the original ocean samples. Since the samples were sent in over the course of February-August ‘21 the presence over time was also able to …
รูปแบบการถ่ายทอดการขยายนิวคลีโอไทด์ซ้ำในโรคลมชักแบบกระตุกที่เริ่มเป็นในวัยผู้ใหญ่และถ่ายทอดในครอบครัวแบบไม่รุนแรงด้วยเทคโนโลยีการหาลำดับเบสแบบสายยาว,
2022
คณะวิทยาศาสตร์
รูปแบบการถ่ายทอดการขยายนิวคลีโอไทด์ซ้ำในโรคลมชักแบบกระตุกที่เริ่มเป็นในวัยผู้ใหญ่และถ่ายทอดในครอบครัวแบบไม่รุนแรงด้วยเทคโนโลยีการหาลำดับเบสแบบสายยาว, ศุภกร รักวงศ์ขจร
Chulalongkorn University Theses and Dissertations (Chula ETD)
โรคลมชักแบบกระตุกที่เริ่มเป็นในวัยผู้ใหญ่และถ่ายทอดในครอบครัวแบบไม่รุนแรง (BAFME) เป็นโรคทางระบบประสาทที่ถ่ายทอดแบบยีนเด่นบนโครโมโซมร่างกาย โดยมีการสั่นและ/หรือชักเกร็งเป็นลักษณะของโรค ซึ่งมีช่วงอายุที่เริ่มแสดงอาการของโรคตั้งแต่วัยรุ่นจนถึงวัยผู้ใหญ่ สาเหตุของโรคเกิดจากการขยายเบสซ้ำชนิด TTTTA และตามด้วยการแทรกตัวของลำดับเบสชนิด TTTCA ในบริเวณอินทรอนของยีนมากมาย รวมถึงอินทรอน 4 ของยีน SAMD12 ในโรคลมชักแบบกระตุกที่เริ่มเป็นในวัยผู้ใหญ่และถ่ายทอดในครอบครัวแบบไม่รุนแรงชนิดที่ 1 (BAFME1) และอินทรอน 1 ของยีน YEATS2 ในโรคลมชักแบบกระตุกที่เริ่มเป็นในวัยผู้ใหญ่และถ่ายทอดในครอบครัวแบบไม่รุนแรงชนิดที่ 4 (BAFME4) จากการศึกษาที่ผ่านมาพบว่าความยาวของจำนวนซ้ำที่มากขึ้นทำให้อาการของโรครุนแรงขึ้น วัตถุประสงค์ของการศึกษานี้ คือการใช้เทคโนโลยีการหาลำดับเบสแบบสายยาวของ Pacific Biosciences ในการระบุจำนวนซ้ำ การศึกษาการถ่ายทอดของการขยายเบสซ้ำ และหาความสัมพันธ์ระหว่างจีโนไทป์และฟีโนไทป์ในครอบครัวผู้ป่วยชาวไทยที่เป็น BAFME1 และ BAFME4 ผลการศึกษาพบว่าในผู้ป่วยที่เป็นพี่น้องกัน จำนวนซ้ำชนิด TTTCA มีความแตกต่างอย่างมีนัยสำคัญเมื่อเทียบกับจำนวนซ้ำชนิด TTTTA สำหรับจำนวนซ้ำ TTTTA มีจำนวนลดลงในขณะที่จำนวนซ้ำ TTTCA มีจำนวนเพิ่มขึ้น เมื่อมีการส่งถ่ายทอดจากผู้ป่วยรุ่นพ่อแม่ไปยังผู้ป่วยรุ่นลูก และพบความสัมพันธ์แบบผกผันระหว่างจำนวนซ้ำ TTTTA จำนวนซ้ำ TTTCA และจำนวนซ้ำทั้งหมด กับอายุที่เริ่มแสดงอาการของโรคในครอบครัว BAFME1 แต่ไม่พบความสัมพันธ์ดังกล่าวในครอบครัว BAFME4 นอกจากนี้ยังพบโครงสร้างรูปแบบใหม่ ((TTTTA)exp(CAAAA)ins(CCAAA)ins(TTTCA)ins) ในผู้ป่วย BAFME4 โดยการศึกษานี้แสดงให้เห็นถึงพฤติกรรมของการขยายเบสซ้ำที่มีทั้งความซับซ้อนและความหลากหลายระหว่างชนิดของ BAFME ที่ต่างกัน
การตรวจหายีนดื้อยากลุ่ม Β-Lactams จากมูลสุกรโดยตรง ด้วยเทคนิค Multiplex Polymerase Chain Reaction ร่วมกับ Lateral Flow Assay และเทคนิค Nested Polymerase Chain Reaction,
2022
คณะสหเวชศาสตร์
การตรวจหายีนดื้อยากลุ่ม Β-Lactams จากมูลสุกรโดยตรง ด้วยเทคนิค Multiplex Polymerase Chain Reaction ร่วมกับ Lateral Flow Assay และเทคนิค Nested Polymerase Chain Reaction, นุชบา สุจันทา
Chulalongkorn University Theses and Dissertations (Chula ETD)
สุกรเป็นอีกหนึ่งแหล่งกักเก็บเชื้อแบคทีเรียที่มียีนดื้อยาสร้างเอนไซม์ Extended-Spectrum β-Lactamases (ESBLs) ซึ่งสามารถแพร่กระจายยีนดื้อยามาสู่มนุษย์ สัตว์ และสิ่งแวดล้อมได้ ในการศึกษานี้จึงได้พัฒนาการตรวจหายีนสร้างเอนไซม์ ESBLs จากมูลสุกรโดยตรง ด้วยเทคนิค Multiplex polymerase chain reaction (mPCR), mPCR-Lateral flow assay (mPCR-LFA) และเทคนิค Nested PCR (nPCR) เปรียบเทียบกับการตรวจจากเชื้อ ESBL-producing Escherichia coli ซึ่งเพาะแยกจากมูลสุกรตัวอย่างเดียวกัน ด้วยเทคนิค PCR-sequencing เชื้อ ESBL-producing E. coli จำนวน 149 isolates ที่เพาะแยกจากมูลสุกรทั้งหมด 139 ตัวอย่าง พบความชุกของยีนชนิด blaCTX-M-15 (34.2%) มากที่สุด รองลงมาคือ blaCTX-M-15+TEM-1 (17.5%) และ blaCTX-M-55+TEM-1 (13.4%) โดยเชื้อ ESBL-producing E. coli ส่วนใหญ่มีการดื้อยาหลายขนาน โดยดื้อต่อยา Ceftriaxone (100%), Cefotaxime (100%), Ciprofloxacin (31.5%) และ Trimethoprim/Sulfamethoxazole (30.9%) ความไว ความจำเพาะ และขีดจำกัดของการตรวจจากเชื้อ ESBL-producing E. coli ด้วยเทคนิค mPCR-LFA เท่ากับ 100% และ 0.1-1 ng ตามลำดับ เทคนิค mPCR ที่พัฒนาขึ้น สำหรับตรวจจากมูลสุกรโดยตรง พบว่าต้องใช้ปริมาณเชื้อมากถึง 107 CFU จึงจะตรวจพบ โดยมีความไวในการตรวจยีน blaCTX-M และ blaTEM เท่ากับ 30.43% และ 87.65% ตามลำดับ ขีดจำกัดและความไวของการตรวจพบยีน blaCTX-M โดยตรง …
Increasing Detection Sensitivity For Rare And Endangered Species In Kansas Through Development Of An Aquatic Environmental Dna Sampling Protocol,
2022
Fort Hays State University
Increasing Detection Sensitivity For Rare And Endangered Species In Kansas Through Development Of An Aquatic Environmental Dna Sampling Protocol, Sarah Hallyburton
Master's Theses or Doctor of Nursing Practice
Anthropogenic global climate change is forcing the mass extinction of wildlife across the globe. Humans depend on freshwater ecosystems for many aspects of life including agricultural production, sanitation, and recreation. Healthy levels of biodiversity in freshwater environments ensure economically beneficial ecosystem services are maintained. Freshwater ecosystems are hotspots for biodiversity and have higher levels of imperiled organisms compared to terrestrial and marine systems. Within freshwater systems, freshwater mussels (Family: Unionidae) are the most imperiled with over 70% of North American species assigned to a conservation class as judged by state or federal management agencies. The objective of this study was …
Efficacy Of Non-Lethal Molecular Methods In Elucidating Distribution Of Gray Treefrog Complex (Hyla Chrysoscelis/Versicolor) In Kansas,
2022
Fort Hays State University
Efficacy Of Non-Lethal Molecular Methods In Elucidating Distribution Of Gray Treefrog Complex (Hyla Chrysoscelis/Versicolor) In Kansas, Nora K. Lazerus
Master's Theses or Doctor of Nursing Practice
Globally, amphibians are the most imperiled vertebrate taxa in part because they rely on both aquatic and terrestrial ecosystems. Specifically, their permeable skin makes them uniquely susceptible to habitat degradation and alteration. Cope’s Gray Treefrog (Hyla chrysoscelis) and the Gray Treefrog (Hyla versicolor) are a diploid-tetraploid, morphologically indistinguishable sister pair of cryptic anurans native to Kansas. Since 1987, the distribution of gray treefrogs in Kanas has extended west but the status of each species in the complex in Kansas is not known beyond its documented combined western expansion. Currently, species identification cannot be determined by nonlethal …
Genomic Degeneration And Reduction In The Fish Pathogen Mycobacterium Shottsi,
2022
Old Dominion University
Genomic Degeneration And Reduction In The Fish Pathogen Mycobacterium Shottsi, David T. Gauthier, Janis H. Doss, M. Lagatta, T. Gupta, R.K. Karls, F. D. Quinn
Biological Sciences Faculty Publications
Mycobacterium shottsii is a dysgonic, nonpigmented mycobacterium originally isolated from diseased striped bass (Morone saxatilis) in the Chesapeake Bay, USA. Genomic analysis reveals that M. shottsii is a Mycobacterium ulcerans/Mycobacterium marinum clade (MuMC) member, but unlike the superficially similar M. pseudoshottsii, also isolated from striped bass, it is not an M. ulcerans ecovar, instead belonging to a transitional group of strains basal to proposed “Aronson” and “M” lineages. Although phylogenetically distinct from the human pathogen M. ulcerans, the M. shottsii genome shows parallel but nonhomologous genomic degeneration, including massive accumulation of pseudogenes accompanied by proliferation of …
Rickettsial Pathogen Perturbs Tick Circadian Gene To Infect The Vertebrate Host,
2022
Old Dominion University
Rickettsial Pathogen Perturbs Tick Circadian Gene To Infect The Vertebrate Host, Supreet Khanal, Vikas Taank, John F. Anderson, Hameeda Sultana, Girish Neelakanta
Biological Sciences Faculty Publications
Ixodes scapularis is a medically important tick that transmits several microbes to humans, including rickettsial pathogen Anaplasma phagocytophilum. In nature, these ticks encounter several abiotic factors including changes in temperature, humidity, and light. Many organisms use endogenously generated circadian pathways to encounter abiotic factors. In this study, we provide evidence for the first time to show that A. phagocytophilum modulates the arthropod circadian gene for its transmission to the vertebrate host. We noted a circadian oscillation in the expression of arthropod clock, bmal1, period and timeless genes when ticks or tick cells were exposed to alternate 12 h …
Genomic Analysis Of Acetoanaerobium Sp. Vlb-1, An Anaerobic Bacterium Isolated From Nebraska's Eastern Saline Wetlands,
2022
University of Nebraska - Lincoln
Genomic Analysis Of Acetoanaerobium Sp. Vlb-1, An Anaerobic Bacterium Isolated From Nebraska's Eastern Saline Wetlands, Claire Martin
Honors Program: Senior Projects (Public)
Through the analysis of genetic code, the genomic and physiological characteristics of an environmental anaerobic bacterial isolate, Acetoanaerobium sp. strain VLB-1, can be determined and significant pathways can be identified in its significance to the environment. This particular organism was isolated from the Eastern Saline Wetlands in Lincoln, NE. With this isolate, an investigation into elemental and amino acid cycling via the Stickland reaction and the Wood-Ljungdahl pathway was conducted to determine possible metabolic products. The Stickland reaction is a relatively newly discovered pathway, observed in the genus Clostridium. A. sticklandii is the main model for this method of …
Investigating The Role Of Chd7 And Sox11 In Retinal Cell Development And The Ocular Complications Of Charge Syndrome,
2022
University of Kentucky
Investigating The Role Of Chd7 And Sox11 In Retinal Cell Development And The Ocular Complications Of Charge Syndrome, Laura Krueger
Theses and Dissertations--Biology
Proper formation of the visual system requires the precise interaction of several embryonic cell lineages, including the neuroectoderm (forms the retina and retinal pigment epithelium), surface ectoderm (forms the lens), mesoderm and cranial neural crest cells (form the ocular blood vessels and anterior ocular structures). When this process is disrupted structural birth defects such as coloboma result, leading to pediatric visual deficits. Ocular developmental defects are often present in larger syndromic disorders. One example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Pathogenic variants in CHD7 have been …
Immunoregulatory Receptor Genetics, Expression, And Splicing Studies In Alzheimer’S Disease,
2022
University of Kentucky
Immunoregulatory Receptor Genetics, Expression, And Splicing Studies In Alzheimer’S Disease, Benjamin C. Shaw
Theses and Dissertations--Physiology
Microglia are the resident immune cells of the brain, undertaking many critical tissue maintenance functions such as immune surveillance and phagocytosis. Microglial dysfunction has recently been identified as a multi-stage signature of many neurodegenerative diseases, including late-onset Alzheimer’s Disease (LOAD). Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) in over thirty genes that modulate risk of developing LOAD. In the central nervous system, roughly half of these LOAD-associated genes are primarily expressed in microglia. The proteins encoded by these genes include cell surface receptors that contain either immunomodulatory tyrosine-phosphorylated activating motifs (ITAMs) or inhibitory motifs (ITIMs), including TREM2 …
The Role Of Nitric Oxide In Inter- And Intra- Cellular Signaling In Plant Defense,
2022
University of Kentucky
The Role Of Nitric Oxide In Inter- And Intra- Cellular Signaling In Plant Defense, Fan Xia
Theses and Dissertations--Plant Pathology
Plants have evolved a sophisticated immune system to defend themselves against pathogens. This immune response can be triggered in response to pathogen-associated molecular patterns (PAMP) or specialized effectors that are recognized by the plant resistance (R) proteins. The latter, commonly referred to as effector-triggered immunity (ETI), is well known to induce broad-spectrum resistance throughout the plants. This phenomenon known as systemic acquired resistance (SAR) is regulated by several chemical signals including salicylic acid (SA), and free radical nitric oxide (NO) and reactive oxygen species (ROS). These signals operate in two parallel branches with NO/ROS functioning downstream of pipecolic acid (Pip) …
A Functional Genomics Approach To Overwintering Mechanisms In Insects,
2022
University of Kentucky
A Functional Genomics Approach To Overwintering Mechanisms In Insects, Emily Allison Wheeler Nadeau
Theses and Dissertations--Entomology
Insects living in temperate and polar environments have developed numerous adaptations to increase survival at low temperatures. A majority of insects are freeze-intolerant and die from internal ice formation, but some are freeze-tolerant and can survive ice formation in extracellular spaces. Both categories of insects prepare for winter with a combination of seasonal and rapid acclimation responses, which differ both in time course and in underlying mechanisms. In this dissertation, I examine adaptations for winter survival in several insect species with a specific focus on molecular mechanisms. To better understand the underpinning mechanisms of these adaptations, I leverage functional genomics …
Analysis Of Root System Architecture And Qtl Identification In Grapevines,
2022
Missouri State University
Analysis Of Root System Architecture And Qtl Identification In Grapevines, Sujan Thapa
Graduate Theses/Dissertations
The root system of the plant plays a vital role in water and nutrient uptake. Native North American grapevines adapted to a broad range of climatic and soil conditions, which led to the evolution of diverse root system architecture (RSA) within the Vitis genus. Despite the importance of RSA in viticulture, little is known about the genetic basis of the RSA in grapevine. I used novel root phenotyping tool, RhizoVision Analyzer to characterize the root system of 208 genotypes of an F1 grapevine progeny obtained from a cross between Vitis rupestris Scheele B38 and Vitis riparia Michx. HP-1. Dormant …
Development Of Genetic Manipulation Techniques For The Fish Pathogen Flavobacterium Psychrophilum,
2022
Minnesota State University, Mankato
Development Of Genetic Manipulation Techniques For The Fish Pathogen Flavobacterium Psychrophilum, Seada Sloboda
All Graduate Theses, Dissertations, and Other Capstone Projects
Flavobacterium psychrophilum is a known fish pathogen, causing bacterial cold-water disease (BCWD) and rainbow trout fry syndrome (RTFS), predominantly in salmonids. The disease causes tissue damage and tail rot in young and adult fish. The issue is prevalent in fisheries in the Pacific Northwest and the treatments often entail the use of antibiotics. Genetic manipulations in F. psychrophilum are scarce, due to most of the strains’ ability to destroy foreign DNA via restriction enzymes. The virulence mechanisms of F. psychrophilum are not well understood. Lack of genetic manipulation tools in F. psychrophilum has also hampered the development of live attenuated …
Characterizing Drought Adaptations, Phenotypic Plasticity, And Fixed Gene Expression Patterns Within Quercus,
2022
Michigan Technological University
Characterizing Drought Adaptations, Phenotypic Plasticity, And Fixed Gene Expression Patterns Within Quercus, James K. Rauschendorfer
Dissertations, Master's Theses and Master's Reports
This dissertation was written on topics related to the genus Quercus with a primary focus on Quercus ellipsoidalis (northern pin oak) and Quercus rubra (northern red oak). Within this dissertation are chapters related to the setup of experimental common gardens within the Ford and Kellogg experimental forest, a literature review describing drought adaptations of Quercus sect. Lobatae (red oak group), identification of transcription factors within the Q. robur (English oak) and Q. rubra genomes, a study comparing leaf trait phenotypic plasticity of Q. ellipsoidalis and Q. rubra, and an RNA-seq experiment studying ecological speciation between Q. ellipsoidalis and Q. …
