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Articles 4741 - 4770 of 9784

Full-Text Articles in Genetics and Genomics

Ictv Virus Taxonomy Profile: Hypoviridae, Nobuhiro Suzuki, Said A. Ghabrial, Kook-Hyung Kim, Michael Pearson, Shin-Yi L. Marzano, Hajime Yaegashi, Jiatao Xie, Lihua Guo, Hideki Kondo, Igor Koloniuk, Bradley I. Hillman, Ictv Report Consortium May 2018

Ictv Virus Taxonomy Profile: Hypoviridae, Nobuhiro Suzuki, Said A. Ghabrial, Kook-Hyung Kim, Michael Pearson, Shin-Yi L. Marzano, Hajime Yaegashi, Jiatao Xie, Lihua Guo, Hideki Kondo, Igor Koloniuk, Bradley I. Hillman, Ictv Report Consortium

Plant Pathology Faculty Publications

The Hypoviridae, comprising one genus, Hypovirus, is a family of capsidless viruses with positive-sense, ssRNA genomes of 9.1–12.7 kb that possess either a single large ORF or two ORFs. The ORFs appear to be translated from genomic RNA by non-canonical mechanisms, i.e. internal ribosome entry site-mediated and stop/restart translation. Hypoviruses have been detected in ascomycetous or basidiomycetous filamentous fungi, and are considered to be replicated in host Golgi-derived, lipid vesicles that contain their dsRNA as a replicative form. Some hypoviruses induce hypovirulence to host fungi, while others do not. This is a summary of the current ICTV report …

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Functional And Structural Impact Of The Loss Of The Leucine-Rich Repeat Protein Lrit1 In The Mouse Retina., Catherine Ann Cobb May 2018

Functional And Structural Impact Of The Loss Of The Leucine-Rich Repeat Protein Lrit1 In The Mouse Retina., Catherine Ann Cobb

Electronic Theses and Dissertations

Mutations in genes encoding the leucine-rich repeat (LRR) proteins nyctalopin and LRIT3 lead to complete congenital stationary night blindness because they are critical to depolarizing bipolar cell function in the retina. LRIT3 has two closely related family members, LRIT1 and LRIT2. In silico analyses of publicly available RNA-Seq data showed that Lrit1 was highly expressed in the retina. Here I describe the expression pattern and impact of loss of LRIT1 on retinal function. To enable these studies, we used CRISPR/Cas9 technology to create an Lrit1-/- mouse line. Retinal morphology and morphometry analyses showed no gross changes in retinal structure …

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Investigating Invasion In Ductal Carcinoma In Situ With To Pographical Single Cell Genome Sequencing, Anna Casasent, Anna Casasent May 2018

Investigating Invasion In Ductal Carcinoma In Situ With To Pographical Single Cell Genome Sequencing, Anna Casasent, Anna Casasent

Dissertations and Theses (Open Access)

Synchronous Ductal Carcinoma in situ (DCIS-IDC) is an early stage breast cancer invasion in which it is possible to delineate genomic evolution during invasion because of the presence of both in situ and invasive regions within the same sample. While laser capture microdissection studies of DCIS-IDC examined the relationship between the paired in situ (DCIS) and invasive (IDC) regions, these studies were either confounded by bulk tissue or limited to a small set of genes or markers. To overcome these challenges, we developed Topographic Single Cell Sequencing (TSCS), which combines laser-catapulting with single cell DNA sequencing to measure genomic copy …

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The Role Of Ferric Reduction Oxidases In Plant Anti-Herbivore Defense., Virginia C. Nunamaker May 2018

The Role Of Ferric Reduction Oxidases In Plant Anti-Herbivore Defense., Virginia C. Nunamaker

College of Arts & Sciences Senior Theses

Iron is an essential element required for plants to carry out metabolic functions such as photosynthesis, heme biosynthesis, and chlorophyll biosynthesis. Within Arabidopsis thaliana, eight ferric reduction oxidase (FRO) genes function in iron uptake and homeostasis with tissue specific expression. However, little else is known regarding the biological role of FROs. Recent studies identify the FRO gene family as particularly responsive to the green leaf plant derived volatile (GLV) cis-3-hexenyl acetate (z3HAC). Since z3HAC acts as a wound signal and cues unaffected parts of the plant to prime defenses prior to herbivory, an increase in FRO activity in response …

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Optimizing Genetic Manipulation Of Methanogens Through Faster Cloning Techniques, Merrisa Jennings May 2018

Optimizing Genetic Manipulation Of Methanogens Through Faster Cloning Techniques, Merrisa Jennings

Biological and Agricultural Engineering Undergraduate Honors Theses

Methanogenesis is the biological production of methane. Only anaerobic archaea known as methanogens are capable of such a metabolic feat. They have strict living conditions and substrate sources which determine their rate of metabolism. This is of particular importance from a greenhouse gas reduction perspective or biogas capturing perspective. One of the best ways to optimize methanogen methane production is via genetic manipulation. The current procedures are timely though, therefore a faster cloning processes should be developed. The objective of this study was to optimize a premade genetic transformation kit known as the Gibson Kit. The Gibson Kit was supposed …

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The Characterization Of The Transcription Factor Msab And Its Role In Staphylococcal Virulence, Justin Batte May 2018

The Characterization Of The Transcription Factor Msab And Its Role In Staphylococcal Virulence, Justin Batte

Dissertations

Staphylococcus aureus is a common human pathogen that is responsible for a wide range of infections, ranging from relative minor skin infections to life-threatening disease such as bacteremia, septicemia, and endocarditis. S. aureus possesses many different virulent factors that aid in its ability to cause this wide array of infections. One major virulence factor includes the production of capsular polysaccharide (CP). The production of CP plays a major role in the virulence response during infection specifically by providing S. aureus an antiphagocytic mechanism that allows the pathogen to evade phagocytosis during an infection. S. aureus has developed complex genetic regulatory …

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Disruption Of Rna Metabolism By Zika Virus, Maggie Lea Dickerson May 2018

Disruption Of Rna Metabolism By Zika Virus, Maggie Lea Dickerson

Honors Theses

Flaviviruses are positive, single-stranded, enveloped RNA viruses that are a part of the family, Flaviviridae. West Nile virus, Dengue, Zika virus and more are a part of this family. Mosquitoes are the vectors for these viruses. In order for the virus to infect mosquitoes, it must evade the RNA interference (RNAi), which is the major antiviral immune mechanism of insects. One study found the 3’ untranslated region (UTR) of the West Nile virus that inhibited the RNAi (GP et al. 2016). The goal of this study is to investigate if the 3’ and 5’ UTR region of the Zika virus …

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Unravelling The Layers Of Cell Wall Synthesis And Function In Rice, Ritu Mihani May 2018

Unravelling The Layers Of Cell Wall Synthesis And Function In Rice, Ritu Mihani

Graduate Theses and Dissertations

The plant cell wall is of critical importance to plant growth and survival, functioning in maintaining structural integrity, supporting cell expansion, and acting as the first line of defense in response to biotic and abiotic stresses. The major components of the cell wall are cellulose, hemicelluloses, lignin, and pectin. Recent focus on the transcriptional machinery regulating cell wall biosynthesis in plants has revealed many key transcription factors responsible for orchestrating cell wall deposition. However, many of these TFs act redundantly and work coherently with a suite of TFs to activate the cell wall biosynthetic machinery. Heterologous expression of TFs is …

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Involvement Of The Ino80 Complex In Chromosome Segregation, Jesus Moreno May 2018

Involvement Of The Ino80 Complex In Chromosome Segregation, Jesus Moreno

Graduate Theses and Dissertations

Chromatin remodeling complexes are multi-protein complexes that regulate the dynamics of the nucleosomes in the genome. The INO80 chromatin remodeling complex participates in varied biological processes such as: transcription, DNA repair, DNA replication and chromosome integrity. It catalyzes the eviction of the H2A.Z variant histone as well as whole nucleosome eviction. This complex is comprised of 15 subunits and the contribution of each to chromosome segregations remains unknown. To evaluate the contribution of each subunit to chromosome segregation, we tested deletion mutants of the non-essential subunits for DNA content and benomyl sensitivity. Also, we assessed members of the SWR1 and …

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Region Based Gene Expression Via Reanalysis Of Publicly Available Microarray Data Sets., Ernur Saka May 2018

Region Based Gene Expression Via Reanalysis Of Publicly Available Microarray Data Sets., Ernur Saka

Electronic Theses and Dissertations

A DNA microarray is a high-throughput technology used to identify relative gene expression. One of the most widely used platforms is the Affymetrix® GeneChip® technology which detects gene expression levels based on probe sets composed of a set of twenty-five nucleotide probes designed to hybridize with specific gene targets. Given a particular Affymetrix® GeneChip® platform, the design of the probes is fixed. However, the method of analysis is dynamic in nature due to the ability to annotate and group probes into uniquely defined groupings. This is particularly important since publicly available repositories of microarray datasets, such as ArrayExpress and NCBI’s …

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Internal Validation Of Strmix™ – A Multi Laboratory Response To Pcast, Jo-Anne Bright, Rebecca Richards, Maarten Kruijver, Hannah Kelly, Catherine Mcgovern, Alan Magee, Andrew Mcwhorter, Anne Cieko, Brian Peck, Chase Baumgartner, Christina Buettner, Scott Mcwilliams, Claire Mckenna, Colin Gallacher, Ben Mallinder, Darren Wright, Deven Johnson, Dorothy Catella, Eugene Lien, Craig O'Connor, George Duncan, Jason Bundy, Jillian Echard, John Lowe, Joshua Stewart, Kathleen Corrado, Sheila Gentile, Marla Kaplan, Michelle Hassler, Naomi Mcdonald, Paul Hulme, Rachel H. Oefelein, Shawn Montpetit, Melissa Strong, Sarah Noel, Simon Malsom, Steven Myers, Susan Welti, Tamyra Moretti, Teresa Mcmahon, Thomas Grill, Tim Kalafut, Mary Margaret Greer-Ritzheimer, Vickie Beamer, Duncan A. Taylor, John S. Buckleton May 2018

Internal Validation Of Strmix™ – A Multi Laboratory Response To Pcast, Jo-Anne Bright, Rebecca Richards, Maarten Kruijver, Hannah Kelly, Catherine Mcgovern, Alan Magee, Andrew Mcwhorter, Anne Cieko, Brian Peck, Chase Baumgartner, Christina Buettner, Scott Mcwilliams, Claire Mckenna, Colin Gallacher, Ben Mallinder, Darren Wright, Deven Johnson, Dorothy Catella, Eugene Lien, Craig O'Connor, George Duncan, Jason Bundy, Jillian Echard, John Lowe, Joshua Stewart, Kathleen Corrado, Sheila Gentile, Marla Kaplan, Michelle Hassler, Naomi Mcdonald, Paul Hulme, Rachel H. Oefelein, Shawn Montpetit, Melissa Strong, Sarah Noel, Simon Malsom, Steven Myers, Susan Welti, Tamyra Moretti, Teresa Mcmahon, Thomas Grill, Tim Kalafut, Mary Margaret Greer-Ritzheimer, Vickie Beamer, Duncan A. Taylor, John S. Buckleton

Biology Faculty Articles

We report a large compilation of the internal validations of the probabilistic genotyping software STRmix™. Thirty one laboratories contributed data resulting in 2825 mixtures comprising three to six donors and a wide range of multiplex, equipment, mixture proportions and templates. Previously reported trends in the LR were confirmed including less discriminatory LRs occurring both for donors and non-donors at low template (for the donor in question) and at high contributor number. We were unable to isolate an effect of allelic sharing. Any apparent effect appears to be largely confounded with increased contributor number.

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The Role Of Merlin And Apicobasal Polarity In Endometrial Development And Homeostasis, Erin Lopez May 2018

The Role Of Merlin And Apicobasal Polarity In Endometrial Development And Homeostasis, Erin Lopez

Dissertations and Theses (Open Access)

Apicobasal polarity and cell adhesion are necessary for the proper formation and organization of epithelial tissues. Merlin couples cell polarity and adhesion through correct localization of the polarity protein Par3 and maturation of apical junctions. Merlin and Par3 are necessary for the development and homeostasis of highly regenerative tissues like the epidermis. The continual repopulation of the endometrium after each menstrual cycle requires a constant reorganization of cell polarity and adhesion. The endometrium consists of a luminal epithelium that postnatally gives rise to the distinct glandular epithelium. Endometrial glands are necessary to secrete nutrients for the pre-implantation embryo. In addition, …

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Psychiatric Impact Of Tuberous Sclerosis Complex And Utilization Of Mental Health Treatment, Kate Mowrey May 2018

Psychiatric Impact Of Tuberous Sclerosis Complex And Utilization Of Mental Health Treatment, Kate Mowrey

Dissertations and Theses (Open Access)

Tuberous sclerosis complex (TSC) is a multi-system, neurocutaneous disorder with neuropsychiatric features known as TSC-associated neuropsychiatric disorders (TAND). While 90% of individuals with TSC have some TAND features, only 20% receive treatment, leading to a 70% treatment gap. This study evaluated perception of disease severity, presence of anxiety and depression, as well as the utilization and barriers towards mental health services among adults with TSC. Disease severity had a moderate and low-moderate association with anxiety and depression, respectively. Regardless of past utilization, respondents had a positive outlook towards the use of mental health services with the major barrier being cost.

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Vascular Injury In Col3a1+/- Mice Model Of Vascular Ehler-Danlos Syndrome, Ping Zhou Ms May 2018

Vascular Injury In Col3a1+/- Mice Model Of Vascular Ehler-Danlos Syndrome, Ping Zhou Ms

Dissertations and Theses (Open Access)

Vascular type of Ehlers-Danlos Syndrome (vEDS) is an inherited cardiovascular disease affecting the middle to large sized arteries, with an incidence rate of 1/5000. vEDS patients also show a significant phenotype of easily bruised skin, indicating aberrant wound healing and injury repair ability. Over 70% of the patients carry a glycine mutation located in their COL3A1 gene, which encodes the propeptide of type III collagen. Mutations in glycine residues lead to a disruption in the assembly and maturation of type III collagen. The goal and significance of the current study was to investigate the potential role of COL3A1 haploinsufficiency …

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Patient Attitudes To Ward Genetic Testing For Inherited Predispositions To Hematologic Malignancies, Taylor Beecroft May 2018

Patient Attitudes To Ward Genetic Testing For Inherited Predispositions To Hematologic Malignancies, Taylor Beecroft

Dissertations and Theses (Open Access)

Although inherited predispositions to hematologic malignancies have previously been considered extremely rare, approximately 12 causative genes have been implicated in the last decade. Since individuals diagnosed with leukemia have not historically been considered for evaluation of inherited predispositions, genetic testing is underperformed in this population. This study used focus group discussions to explore the attitudes, motivations, and barriers to genetic testing for 23 patients with leukemia. Participants generally exhibited a positive regard for the utility of genetic testing, and were primarily motivated by concern for their family and a sense of altruism toward all leukemia patients. While drawbacks and barriers …

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Phylogeny And Evolutionary Genomics Of Non-Photosynthetic Diatoms, Anastasiia Onyshchenko May 2018

Phylogeny And Evolutionary Genomics Of Non-Photosynthetic Diatoms, Anastasiia Onyshchenko

Graduate Theses and Dissertations

Diatoms are prolific photosynthesizers responsible for some 20% of global primary production. In real terms, the oxygen in one of every five breaths traces back to photosynthesis by marine diatoms. Among the tens of thousands of diatom species, a small handful of colorless diatom species in the genus Nitzschia have lost photosynthesis altogether and rely exclusively on extracellular organic carbon for growth. I used DNA sequence data to reconstruct the phylogeny of this group, and found that nonphotosynthetic diatoms are monophyletic, indicating that photosynthesis was lost just one time over the course of some 200 million years of diatom evolution. …

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A Contribution Toward A Global Monograph Of Gyroporus: Taxonomy, Phylogeny, Biogeography, Naveed Davoodian May 2018

A Contribution Toward A Global Monograph Of Gyroporus: Taxonomy, Phylogeny, Biogeography, Naveed Davoodian

Dissertations, Theses, and Capstone Projects

Gyroporus (Sclerodermatineae, Boletales, Agaricomycetes, Basidiomycota, Fungi) is a genus of ectomycorrhizal mushroom-forming fungi distributed throughout the world in suitable habitats. Previous attempts to untangle the diversity of this genus proved difficult due to the presence of semi-cryptic species and equivocal results from phylogenetic analysis of ribosomal RNA markers. To overcome these obstacles, a combined taxonomic and phylogenetic (emphasizing protein-coding genes) approach is used here to delimit species and elucidate geographic and evolutionary patterns of Gyroporus. Careful study of relevant literature and herbarium specimens was augmented by field work in North America, Australia, and East Asia for observation and collection …

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The Ush2a Gene: An Analysis Of Ultrasonic Vocalizations In A Mouse Model Of Usher Syndrome Type 2, Kiana R. Akhundzadeh May 2018

The Ush2a Gene: An Analysis Of Ultrasonic Vocalizations In A Mouse Model Of Usher Syndrome Type 2, Kiana R. Akhundzadeh

Honors Scholar Theses

Usher syndrome type 2 is a complex autosomal recessive genetic disorder that is characterized by moderate to severe congenital sensorineural hearing loss, the onset of retinitis pigmentosa in the second decade of life, and in some cases, vestibular dysfunction. Mutations in the USH2A gene account for 85% of cases of type 2. The USH2A gene is responsible for encoding the protein usherin, which has an important role in the development and function of inner ear hair cells and retinal photoreceptors. Until recently, it has been believed that carriers of the USH2A mutation were phenotype free. However, recent data has suggested …

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Sequencing And Analysis Of Centromere Protein B In Wallaby And The Rapid Evolution Of The Centromere, Alexander Tedeschi May 2018

Sequencing And Analysis Of Centromere Protein B In Wallaby And The Rapid Evolution Of The Centromere, Alexander Tedeschi

Honors Scholar Theses

Using a combination of Sanger sequencing and RNA-seq data, this project aims to determine the nucleotide and amino acid sequence of Centromere Protein B (CENP-B), an important protein involved in the assembly of the kinetochore protein complex at the centromere, in several species of marsupials, specifically wallabies. Despite their recent evolutionary history, these species have been shown to have surprisingly divergent centromeric DNA sequences. Through comparative analysis of these sequences, this project, along with analysis of several other CENPs, aims to determine if this divergence extends to the proteins closely associated with these sequences and possibly even further into the …

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Identifying New Genes Involved In Centromere Establishment, Megan Boyer May 2018

Identifying New Genes Involved In Centromere Establishment, Megan Boyer

Honors Scholar Theses

The centromere is a site on the chromosome that mediates accurate cell division by serving as a platform for kinetochore assembly, and microtubule attachment during cell division. Errors in the process of chromosome segregation can contribute to genetic irregularities, such as those seen in cancer and congenital defects. Our lab uses the ectopic centromere as a tool to discover what proteins may be involved in centromere establishment, defined as the deposition of CENP-A at the locus. We use the lacO/LacI system within Drosophila S2 cells that contain a CAL1-GFP- LacI transgene and an integrated lacO array to study the ectopic …

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Characterizing Cultivable Bacteria From Trachymyrmex Septentrionalis Fungus Gardens, Hannah Beatty May 2018

Characterizing Cultivable Bacteria From Trachymyrmex Septentrionalis Fungus Gardens, Hannah Beatty

Honors Scholar Theses

The relationship between the fungus-growing ant Trachymyrmex septentrionalis, its symbiotic cultivar fungus, and the transient and residential community of microorganisms is a diverse and complex symbiosis that has evolved over space and time. The fungus garden, comprised primarily of the cultivar fungus belonging to the family Leucocoprineae,provides an environment that hosts many bacteria, which may also play an important role in this symbiosis. Although it is known that Pseudonocardia bacteria defend the ant host against fungal pathogens, other species of bacteria that are present in these fungus gardens also likely contribute to this symbiosis. Previous studies of this …

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Evolution Via Gene Duplication And Alternative Splicing In The Eukaryotic Ski7 And Hbs1 Genes, Alexandra Marshall May 2018

Evolution Via Gene Duplication And Alternative Splicing In The Eukaryotic Ski7 And Hbs1 Genes, Alexandra Marshall

Dissertations and Theses (Open Access)

Gene duplication and alternative splicing are both recognized as important drivers of proteomic diversity and innovation during evolution, but the evolutionary changes over long periods of time or the interrelations of the two processes has not been extensively studied. Here I study these phenomena for the SKI7 and HBS1 gene pair. These Saccharomyces cerevisiae genes were created as part of a whole genome duplication (WGD) event and have since functionally diverged. Although both genes function in mRNA surveillance pathways, the two genes act on different RNAs and have different effects on the target mRNAs. Ski7 brings the Ski complex and …

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Attitudes To Ward Updated Genetic Testing Among Patients With Unexplained Mismatch Repair Deficiency, Jessica Omark May 2018

Attitudes To Ward Updated Genetic Testing Among Patients With Unexplained Mismatch Repair Deficiency, Jessica Omark

Dissertations and Theses (Open Access)

Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair deficiency (UMMRD, also known as mutation-negative Lynch syndrome). Comprehensive genetic testing that could potentially further clarify Lynch syndrome (LS) carrier status is essential to provide tailored screening guidelines to affected individuals and their family members; however, patient understanding of the potential impact of updated genetic testing for LS is unclear. This study aimed to evaluate the interest in and perceived impact of updated genetic …

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Functional Similarity Of Prd-Containing Virulence Regulators In Bacillus Anthracis, Malik Raynor May 2018

Functional Similarity Of Prd-Containing Virulence Regulators In Bacillus Anthracis, Malik Raynor

Dissertations and Theses (Open Access)

Bacillus anthracis produces three regulators, AtxA, AcpA, and AcpB, that control virulence gene expression and are members of an emerging class of regulators termed “PCVRs” (Phosphoenolpyruvate-dependent phosphotransferase regulation Domain-Containing Virulence Regulators). AtxA controls expression of the toxin genes; lef, cya, and pag, and is the master virulence regulator and archetype PCVR. AcpA and AcpB are less well studied. AcpA and AcpB independently positively control transcription of the capsule biosynthetic operon capBCADE, and culture conditions that enhance AtxA activity result in capBCADE transcription in strains lacking acpA and acpB. RNA-Seq was used to assess the regulons of the …

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Investigating The Impact Of Intragenic Dna Methylation On Gene Expression, And The Clinical Implications On Tumor Cells And Associated Stroma, Michael Mcguire May 2018

Investigating The Impact Of Intragenic Dna Methylation On Gene Expression, And The Clinical Implications On Tumor Cells And Associated Stroma, Michael Mcguire

Dissertations and Theses (Open Access)

Investigations into the function of non-promoter DNA methylation have yielded new insights into epigenetic regulation of gene expression. Previous studies have highlighted the importance of distinguishing between DNA methylation in discrete functional regions; however, integrated non-promoter DNA methylation and gene expression analyses across a wide number of tumor types and corresponding normal tissues have not been performed. Through integrated analysis of gene expression and DNA methylation profiles, we uncovered an enrichment of DNA methylation sites within the gene body and 3’UTR in which DNA methylation is strongly positively correlated with gene expression. We examined 32 tumor types and identified 57 …

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Examining The Relationship Between Genetic Counselors’ Implicit Attitudes To Ward Disability And Their Practice Methods, Helen W. Gould May 2018

Examining The Relationship Between Genetic Counselors’ Implicit Attitudes To Ward Disability And Their Practice Methods, Helen W. Gould

Dissertations and Theses (Open Access)

Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child. This role requires genetic counselors to be responsible and compassionate when approaching conversations about disability. With a lack of research on how the specific attitudes of genetic counselors toward disability impact clinical practice, we aimed to understand these attitudes, what factors affect implicit attitudes toward disability, and how these attitudes affect counseling. Case scenarios involving disability were used to examine different counseling content preferences within a genetic …

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Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions, Sara Wofford May 2018

Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions, Sara Wofford

Dissertations and Theses (Open Access)

Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists …

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Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace May 2018

Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace

Dissertations and Theses (Open Access)

Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic testing …

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Computational Insights Into The Generation Of Chromosomal Copy Number Changes, Yihua Liu May 2018

Computational Insights Into The Generation Of Chromosomal Copy Number Changes, Yihua Liu

Dissertations and Theses (Open Access)

Deviations from a diploid configuration of the human genome, spanning single genes or entire chromosomes, can have wide-ranging impacts on the variation of human phenotypes, including Mendelian and complex forms of diseases. These chromosomal alterations — such as duplications, deletions or copy-neutral loss-of-heterozygosity — are thus important forms of genetic variation for phenotyping populations of individuals as well as populations of cells. Indeed, copy number variants (CNVs) serve as hallmarks of critical changes in the development of particular diseases such as cancer and thus may be used as biomarkers. These CNVs may be either inherited (transmitted by germ cells, originating …

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Trim24 In Normal & Malignant Hematopoiesis, Justin Shaw May 2018

Trim24 In Normal & Malignant Hematopoiesis, Justin Shaw

Dissertations and Theses (Open Access)

Treatment for acute myeloid leukemia (AML) has changed little in the past four decades. For the majority of AML patients, current treatment options include chemotherapy and allogeneic stem cell transplants, which also involves high-dose chemotherapy or radiation treatment. These options have little success in the long-run, as only an estimated 26% of patients survive five years post-diagnosis. In efforts to address this low survival rate, interest has increased for targeting epigenetic pathways in AML. This focus stems from the discovery that AML is frequently driven by blockades on hematopoietic stem cell differentiation, which involves a series of coordinated epigenetic changes. …

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