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Relevant bibliographies by topics / Epigenomics and epigenetics / Dissertations / Theses

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Dissertations / Theses on the topic 'Epigenomics and epigenetics'

Author: Grafiati

Published: 10 December 2022

Last updated: 31 July 2025

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1

Baker, Katie. "The chromatin landscape of barley : gene expression, evolution and epigenetics." Thesis, University of Dundee, 2015. https://discovery.dundee.ac.uk/en/studentTheses/13a096cd-f45b-4e34-babd-ccb3ff3607ca.

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Barley (Hordeum vulgare) is an economically important crop species with a large diploid genome. Around a half of the barley genome and a fifth of the genes are constrained within a low-recombining pericentromeric (LR-PC) region. I explored the LR-PC gene component with a genomic investigation of gene expression, diversity and evolution. Chromatin environments were also explored in the LR and high recombining (HR) regions by surveying the genic and genomic distributions of nine histone modifications. Firstly, regions of HR and LR were identified and compared for gene evolution, expression and d

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2

Drong, Alexander Werner. "Comprehensive assessment of the role of DNA methylation in obesity and type 2 diabetes." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:c2df87d9-9929-4eb1-8c44-61452b88ea3c.

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Obesity and type 2 diabetes (T2D) are major risk factors for cardiovascular and other diseases and are currently undergoing an increase in global prevalence. The work presented in my thesis addresses the role epigenetics, specifically DNA methylation, plays in the susceptibility to obesity and T2D and deals with methodological issues in the analysis of DNA methylation data. I first combined epigenome-wide DNA methylation data across 38 adipose tissue samples with corresponding SNP and mRNA data for the same subjects. At 5&percnt; false discovery rate (FDR), methylation of 149 regions associate

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3

Franceschini, Gian Marco. "The DNA methylation landscape of metastatic prostate cancer: from characterization to liquid biopsy applications." Doctoral thesis, Università degli studi di Trento, 2023. https://hdl.handle.net/11572/364210.

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Epigenetic alterations are observed in virtually all cancer types, yet there is limited understanding of their role in tumorigenesis and evolution. The role of DNA methylation has been particularly elusive in this context. While this epigenetic mark has been extensively profiled in healthy and cancerous samples, our ability to understand its relationship with underlying biological processes is still limited. Moreover, recent advancements in the profiling of cell-free DNA in circulation have sparked renowned attention toward tissue-specific and cancer-specific DNA methylation patterns. In this

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4

Nordor, Akpéli. "Toward the identification of cancer/placenta epigenetic switches." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB097.

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Les cellules placentaires portent un génome différent du génome maternel, puisque 50% de leurs gènes proviennent du génome paternel. Cependant, comme les cellules cancéreuses après la transformation néoplasique, elles réussissent à envahir les tissus de leur hôte, échapper à son système immunitaire et induire une angiogenèse afin d’établir la grossesse. Les cellules cancéreuses et placentaires arborent aussi une différence majeure : alors que de tels mécanismes typiques des cancers sont incontrôlés dans les cellules cancéreuses, ils sont spatialement et temporairement contrôlés dans les cell

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5

Hernando, Herráez Irene 1985. "Evolutionary insights into human DNA methylation." Doctoral thesis, Universitat Pompeu Fabra, 2015. http://hdl.handle.net/10803/392140.

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DNA methylation is a crucial epigenetic modification involved in numerous biological processes. However, despite its functional importance, the evolutionary history of this modification and the mechanisms diving such changes are poorly understood. The aim of this thesis is to provide a better understanding of DNA methylation in the context of human recent evolution. We identified and described hundreds of regions presenting a human-specific DNA methylation pattern compared to great apes. We also analyzed for the first time the relationship between DNA methylation changes and sequence evolution

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6

Yen, Angela. "Computational epigenomics : gene regulation, comparative methodologies, and epigenetic patterns." Thesis, Massachusetts Institute of Technology, 2016. http://hdl.handle.net/1721.1/105953.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Electrical Engineering and Computer Science, 2016.<br>This electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.<br>Cataloged from student-submitted PDF version of thesis.<br>Includes bibliographical references (pages 203-225).<br>One of the fundamental aims of biology is to determine what lies at the root of differences across individuals, species, diseases, and cell types. Furthermore, the sequencing of genomes has revolutionized the way

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7

Severson, Paul Leamon. "Epigenomic Actions of Environmental Arsenicals." Diss., The University of Arizona, 2013. http://hdl.handle.net/10150/299122.

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Epigenetic dysfunction is a known contributor in carcinogenesis, and is emerging as a mechanism involved in toxicant-induced malignant transformation for environmental carcinogens such as arsenicals. In addition to aberrant DNA methylation of single genes, another manifestation of epigenetic dysfunction in cancer is agglomerative DNA methylation, which can participate in long-range epigenetic silencing that targets many neighboring genes and has been shown to occur in several types of clinical cancers. Using in vitro model systems of toxicant-induced malignant transformation, we found hundre

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8

Bhasin, Jeffrey M. "Methylome Sequencing Reveals the Context-Specific Functions of DNA Methylation in Indolent Versus Aggressive Prostate Cancer." Case Western Reserve University School of Graduate Studies / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=case148120498969955.

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9

Wang, Jianrong. "Computational algorithm development for epigenomic analysis." Diss., Georgia Institute of Technology, 2012. http://hdl.handle.net/1853/48984.

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Multiple computational algorithms were developed for analyzing ChIP-seq datasets of histone modifications. For basic ChIP-seq data processing, the problems of ambiguous short sequence read mapping and broad peak calling of diffuse ChIP-seq signals were solved by novel statistical methods. Their performance was systematically evaluated compared with existing approaches. The potential utility of finding meaningful biological information was demonstrated by the applications on real datasets. For biological question driven data mining, several important topics were selected for algorithm developme

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10

Zhu, Yan. "Microfluidic Technology for Low-Input Epigenomic Analysis." Diss., Virginia Tech, 2018. http://hdl.handle.net/10919/83402.

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Epigenetic modifications, such as DNA methylation and histone modifications, play important roles in gene expression and regulation, and are highly involved in cellular processes such as stem cell pluripotency/differentiation and tumorigenesis. Chromatin immunoprecipitation (ChIP) is the technique of choice for examining in vivo DNA-protein interactions and has been a great tool for studying epigenetic mechanisms. However, conventional ChIP assays require millions of cells for tests and are not practical for examination of samples from lab animals and patients. Automated microfluidic chips off

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11

Gerrard, Diana Lea. "Characterization Of Epigenetic Plasticity And Chromatin Dynamics In Cancer Cell Models." ScholarWorks @ UVM, 2019. https://scholarworks.uvm.edu/graddis/1060.

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Cancer progression is driven by cumulative changes that promote and maintain the malignant phenotype. Epigenetic alterations are central to malignant transformation and to the development of therapy resistance. Changes in DNA methylation, histone acetylation and methylation, noncoding RNA expression and higher-order chromatin structures are epigenetic features of cancer, which are independent of changes in the DNA sequence. Despite the knowledge that these epigenetic alterations disrupt essential pathways that protect cells from uncontrolled growth, how these modifications collectively coordin

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12

Hung, Stevephen. "Genetic Determinants of Enhancer Activation in Human Colon Cancer Epigenomes." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1567786267717899.

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13

Colì, Davide. "Magnetic Polymer Models for Epigenomic Spreading and Chromatin Organization." Doctoral thesis, Università degli studi di Padova, 2020. http://hdl.handle.net/11577/3426255.

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In this thesis we present a detailed investigation of the interplay between 3D organization of the chromatin and epigenomic spreading in Eukaryotic nuclei, via polymer physics models. We begin with a review of the biology behind epigenetic processes, and of some basic physical models that have been proposed to describe them. We also examine the model presented in [1], and study in details its equilibrium and non-equilibrium dynamics via extensive molecular dynamic simulations. At equilibrium we confirm the existence of a first-order phase transition between a swollen and epigenetically disord

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14

Cluny, Vasco Silva Oliveira. "Exploratory study of age related epigenomic patterns." Master's thesis, Universidade de Aveiro, 2016. http://hdl.handle.net/10773/17887.

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Mestrado em Biotecnologia Molecular<br>Sabe-se hoje que o genoma humano, para além da sua sequencia nucleotídica, revela várias alterações químicas no DNA, nomeadamente metilações das citosinas. Estas modificações estabelecem padrões específicos que podem ser transmitidos de uma geração para a seguinte e exercem controlo sobre os genes que são expressos a cada momento nas células, tecidos ou orgãos. Esta tese teve como objectivos: explorar as principais bases de dados que contêm dados epigenómicos relevantes; obter ficheiros fastq de bibliotecas bisulfite-seq aplicando métodos de data mining a

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15

Reina, García Óscar 1976. "Computational tool for visualization, analysis and comparison of epigenomes." Doctoral thesis, Universitat Pompeu Fabra, 2018. http://hdl.handle.net/10803/586018.

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We developed a computational framework implemented as an R package for generation, visualization and functional and differential analysis of epigenome maps. Methods are provided for integrating and comparing data from different conditions or biological backgrounds, accounting and adjusting for systematic biases in order to provide an efficient and statistically robust base for differential analysis. We also provide methods for general data assessment and quality control, such as functions to study chromatin domain conservation between epigenomic backgrounds, to detect gross technical outliers

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16

Feuerbach, Lars [Verfasser], and Thomas [Akademischer Betreuer] Lengauer. "Evolutionary epigenomics - identifying functional genome elements by epigenetic footprints in the DNA / Lars Feuerbach. Betreuer: Thomas Lengauer." Saarbrücken : Saarländische Universitäts- und Landesbibliothek, 2014. http://d-nb.info/1058376772/34.

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Feuerbach, Lars Verfasser], and Thomas [Akademischer Betreuer] [Lengauer. "Evolutionary epigenomics - identifying functional genome elements by epigenetic footprints in the DNA / Lars Feuerbach. Betreuer: Thomas Lengauer." Saarbrücken : Saarländische Universitäts- und Landesbibliothek, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:291-scidok-58884.

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18

Ferreira, Susana Catarina da Costa. "Study of the epigenetic signals in the human genome." Master's thesis, Universidade de Aveiro, 2016. http://hdl.handle.net/10773/16568.

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Mestrado em Biomedicina Molecular<br>Epigenetics can be defined as changes in the genome that are inherited during cell division, however without direct modify the DNA sequence. These genomic changes are supported by three major epigenetic mechanisms: DNA methylation, histone modification and small RNAs. Different epigenetic marks function by regulating gene transcription, because when these processes are altered, this triggers various diseases such as cancer. Thus, one main objective was to study the epigenetics signals in the human genome, meaning, whether there is dependence observed betwe

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19

Marchioretto, Lisa. "Development and validation of methods for genome-wide epigenetic analyses of human myogenic cells." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3423853.

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Epigenetics is subjected to a pressing attention from the scientific community, because of its potential to explain the mechanisms of gene activation or repression. In this thesis I present a discovery-driven project aimed to the investigation of the epigenetic role in human myogenesis (and in particular the differentiation of myoblasts in myotubes). Studying epigenetics still presents significant hurdles, both experimental and computational. Therefore my first task was the establishment of robust protocols for investigating the role of epigenetics players during skeletal muscle differentiati

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20

Cruz, Lucas Alvizi. "Genetic and epigenetic mechanisms in the aetiology of orofacial clefts." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-12122017-172943/.

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Craniofacial development is a tightly regulated event that requires expression of many genes at a precise space-temporal specificity. Interference in the regulation of such genes and their pathways is known to lead to abnormal phenotypes affecting the face and cranium. In this manner, regulation of these pathways is further complicated by interaction between genetic and environmental factors such that disturbance to either may result in craniofacial malformation, as orofacial clefts. Despite several at-risk loci have been identified, they do not completely explain the high heritability observe

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21

Jené, i. Sanz Alba 1984. "Integrative study of the regulatory and epigenomic programs involved in cancer development." Doctoral thesis, Universitat Pompeu Fabra, 2013. http://hdl.handle.net/10803/113380.

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El càncer ha estat tradicionalment considerat una malaltia fonamentalment genètica, però recentment s'està fent palès que la desregulació de mecanismes epigenètics contribueix en gran manera al desenvolupament tumoral. Al bell mig de la intersecció entre la genètica i l'epigenètica s'hi troben els factors reguladors de la cromatina (CRFs, en anglès), que són un focus important de recerca a causa de la seva potencial utilitat en teràpies contra el càncer. En aquesta tesi, determino l'estat transcriptòmic de cèl·lules normals i tumorals basant-me en informació epigenètica i regulatòria, i d

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22

Filleton, Fabien. "Cartographie et analyse de variations épigénomiques naturelles chez la levure Saccharomyces cerevisiae." Thesis, Lyon, École normale supérieure, 2015. http://www.theses.fr/2015ENSL1044.

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L'épigénome est défini par l’ensemble de l’information chromatinienne autre que celle fournie par la séquence ADN. Au sein d'une même espèce et pour un type cellulaire donné, chaque individu présente des caractéristiques particulières de l'épigénome. Les épi-polymorphismes, définis comme étant les différences inter-individus de marques chromatiniennes, sont encore partiellement caractérisés et peuvent être liés aux phénotypes de chacun. La première partie de mon travail a été d'identifier et d'interpréter chez S.cerevisiae l'impact des épi-polymorphismes de modification des queues d'histones.

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23

Hugues, Alice. "Epigenetic regulation of root cell differentiation by the Polycomb Repressive Complex 2 in Arabidopsis thaliana." Electronic Thesis or Diss., Lyon, École normale supérieure, 2024. http://www.theses.fr/2024ENSL0005.

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La différentiation cellulaire, qui désigne la transition d’une cellule d’un état souche vers un état mature, est un processus morphogénétique : elle s’accompagne de changements phénotypiques cellulaires issus de modifications de l’expression des gènes. L’activation et la répression de l’expression des gènes résulte de l’activité conjointe de facteurs de transcription et de complexes régulateurs de la chromatine qui instruisent des états chromatiniens locaux via des modifications post-traductionnelles (PTM) des histones nucléosomales. Ces états peuvent faciliter ou empêcher la machinerie de tra

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24

Chiapperino, L. "FROM CONSENT TO CHOICE: THE ETHICS OF EMPOWERMENT-BASED REFORMS." Doctoral thesis, Università degli Studi di Milano, 2015. http://hdl.handle.net/2434/265423.

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The aim of my thesis is twofold. First, I focus on the controversies arising from the renegotiations of patienthood and citizenship entailed in what I call ‘empowerment-based reforms’ (EBRs). What I define as EBRs will have in fact different implications for the various stakeholders involved in their development and implementation. Empowered citizens within EBRs will have access to (and will be required to manage) an unprecedented amount of information regarding their health conditions. Factors such as genetic and biological makeup, life-style behaviours and environmental exposures will be inc

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25

Cortijo, Sandra. "Etude des variations épigénétiques liées aux séquences répétées comme source de changements phénotypiques héritables chez Arabidopsis thaliana." Phd thesis, Université Paris Sud - Paris XI, 2012. http://tel.archives-ouvertes.fr/tel-00742834.

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Des changements de méthylation de l'ADN peuvent affecter l'expression des gènes et pour certains être transmis au travers des générations. De telles " épimutations " qui concernent des groupes de cytosines à proximité ou dans les gènes sont donc une source potentielle de variation phénotypique héritable en absence de changements de la séquence de l'ADN. Chez les plantes la méthylation de l'ADN est cependant principalement observée au niveau des séquences répétées. Il reste à déterminer dans quelle mesure les changements de méthylation au niveau de ce type de séquences peuvent être héritées et

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Baudre, Léa. "Non-genetic regulation of chemopersistence in Triple Negative Breast Cancers." Electronic Thesis or Diss., Sorbonne université, 2024. http://www.theses.fr/2024SORUS261.

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La résistance aux thérapies anti-cancéreuses demeure un enjeu majeur, en particulier dans le cancer du sein triple négatif (TNBC), dont le traitement repose principalement sur la chimiothérapie. L'acquisition de la résistance est un processus en plusieurs étapes qui commence par la survie d'une sous-population rare de cellules cancéreuses. Ces cellules, appelées cellules persistantes, constituent un réservoir à partir duquel les cellules résistantes finiront par émerger. L'état de persistance est transitoire et réversible, ouvrant des perspectives d'intervention thérapeutique. Cependant, compr

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Cazaly, E. "Epigenomic and genomic analysis of familial prostate cancer." Thesis, 2017. https://eprints.utas.edu.au/23806/1/Cazaly_whole_thesis.pdf.

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Over a million men world-wide are affected by prostate cancer, with the disease particularly prevalent in Australia, with more than 20,000 men diagnosed annually across the country. There remain significant clinical challenges in diagnosis and treatment. A family history is a major risk factor, indicating an underlying genetic component, yet the majority of inherited factors contributing to disease remain to be elucidated. Identifying this unaccounted heritable contribution will extend our understanding of prostate cancer development and progression, and has the potential to improve diagnosis

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Tor, Moron Dalla. "GENOME-WIDE DNA METHYLATION PROFILING OF OBESE INSULIN RESISTANT CHILDREN." Doctoral thesis, 2021. http://hdl.handle.net/11562/1045548.

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Introduzione: L’insulino resistenza si presenta quando la risposta delle cellule all’insulina è diminuita causando un drammatico innalzamento dei livelli di zucchero nel sangue. I diversi fattori di rischio per l’insulino resistenza includono uno stile di vita sedentario, obesità, storia familiare di diabete e invecchiamento. Negli ultimi anni, il diabete di tipo 2, l’insulino resistenza e l’obesità sono considerevolmente aumentate nella popolazione contribuendo all’incremento in morbidità e mortalità nel mondo. I molti meccanismi proposti per spiegare il funzionamento dell’insulino resistenza

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(7036082), Lama Abdullah Alabdi. "MOLECULAR MECHANISMS THAT GOVERN STEM CELL DIFFERENTIATION AND THEIR IMPLICATIONS IN CANCER." Thesis, 2019.

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<p>Mammalian development is orchestrated by global transcriptional changes, which drive cellular differentiation, giving rise to diverse cell types. The mechanisms that mediate the temporal control of early differentiation can be studied using embryonic stem cell (ESCs) and embryonal carcinoma cells (ECCs) as model systems. In these stem cells, differentiation signals induce transcriptional repression of genes that maintain pluripotency (PpG) and activation of genes required for lineage specification. Expression of PpGs is controlled by these genes’ proximal and distal regulatory elements, pro

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(8715333), Aktan Alpsoy. "CHARACTERIZATION OF NOVEL SWI/SNF CHROMATIN REMODELING COMPLEX (GBAF) IN HEALTH AND DISEASE." Thesis, 2020.

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<p>In eukaryotic systems, the genetic material of the cell –DNA– is packed into a protein-dense structure called chromatin. Chromatin structure is critical for preservation of the genetic material as well as coordination of vital processes such as DNA replication, transcription and DNA damage repair. The fundamental repeating unit of chromatin is nucleosome which is composed of an octamer of small alkaline proteins called histones and the DNA wrapped around this octamer. The nucleosomes are then packed into higher-order structures leading to formation of 3D chromatin architecture. The chromat

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(5929607), Katelyn E. Connelly. "UNDERSTANDING THE CONTRIBUTIONS OF THE POLYCOMB CBX PARALOGS IN BINDING AND ONCOGENSIS." Thesis, 2019.

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The transcriptional repressor Polycomb Repressive Complex 1 (PRC1) is critical for stem cell maintenance and proper differentiation and as such is involved in the development and progression of cancer. Canonical PRC1, composed of PCGF, PHC, RING and CBX, binds histone H3 lysine 27 trimethylation (H3K27me3) allowing for ubiquitination, chromatin compaction and subsequently transcriptional silencing. In mammals, each subunit has multiple paralogs creating functional and compositional diversity. The greatest diversity is contributed by the CBX targeting subunit with five mutually exclusive paralo

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(6615521), Elizabeth G. Porter. "ELUCIDATING THE ROLE OF POLYBROMO-1 IN TARGETING THE PBAF COMPLEX UNDER STRESS." Thesis, 2019.

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DNA organization is an intricate and dynamic process. The approximately two meters of DNA in a single cell is wrapped around small proteins called histones. Histones can be compacted into dense coils or loosely distributed along DNA, allowing for cells to control gene expression. This combination of DNA and histones forms chromatin. This work has focused on understanding the role of Polybromo1 (PBRM1), which is a member of a chromatin remodeling complex. PBRM1 is mutated in 3% of all human cancers and is mutated in 40% of renal clear cell carcinomas (ccRCC), the most common type of kidney canc

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(8612079), Arpita S. Pal. "Identification of novel epigenetic mediators of erlotinib resistance in non-small cell lung cancer." Thesis, 2020.

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<p>Lung cancer is the third most prevalent cancer in the world; however it is the leading cause of cancer related deaths worldwide. Non-small cell lung cancer (NSCLC) accounts for ~85% of the lung cancer cases. The current strategies to treat NSCLC patients with frequent causal genetic mutations is through targeted therapeutics. Approximately 10-35% of NSCLC patient tumors have activated mutations in the Epidermal Growth Factor Receptor (EGFR) resulting in uncontrolled cellular proliferation. The standard-of care for such patients is EGFR-Tyrosine Kinase Inhibitors (EGFR-TKIs), a class of targ

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(6635906), Erin L. Sorlien. "The Chromatin Remodeler and Tumor Suppress Chd5 Promotes Expression and Processing of Transcripts During Development of the Zebrafish Neural System." Thesis, 2019.

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<div>Vertebrate neurogenesis is a multistep process that coordinates complex signaling pathways and chromatin-based regulatory machinery to generate highly specialized cells (Hsieh and Zhao 2016; Urban and Guillemot 2014; Alunni and Bally-Cuif 2016; Yao and Jin 2014; Schmidt, Strahle, and Scholpp 2013). Epigenetic factors play a fundamental role in underwriting neurogenesis in part by contributing to control of gene expression in differentiating neurons. A mechanistic understanding of the epigenetic machinery underlying neurogenesis in vertebrates is necessary both to fully understand biogene

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Bahari, Javan Sanaz. "Epigenomic Imaging of Neuropsychiatric Diseases." Doctoral thesis, 2013. http://hdl.handle.net/11858/00-1735-0000-0022-6093-A.

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(9010811), Allison B. Norvil. "Biochemical Investigation of the de novo DNA Methyltransferases DNMT3A and DNMT3B." Thesis, 2020.

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<p>DNA methylation is an epigenetic modification that is nearly ubiquitous. Eukaryotic DNA methylation contributes to the regulation of gene expression and maintaining genome integrity. In mammals, DNA methylation occurs primarily on the C5 carbon of cytosine in a CpG dinucleotide context and is catalyzed by the DNA methyltransferases, DNMT1, DNMT3A and DNMT3B. While <i>dnmt3a</i> and <i>dnmt3b</i> genes are highly homologous, the enzymes have distinct functions. Some previous reports suggested differences in the enzymatic behavior of DNMT3A and 3B, which could affect their biological roles.

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Ismail, Ayesha. "Epigenetic inheritance of aberrant DNA methylation signatures as a consequence of chronic paternal alcohol exposure and the effect on embryonic gene expression in mice." Thesis, 2015. http://hdl.handle.net/10539/21283.

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A dissertation submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in fulfillment of the requirements for the degree in Master of Science (Medicine) in the Division of Human Genetics<br>Epigenetic mechanisms regulate gene expression, a particularly important activity during foetal development. DNA methylation contained within promoter and regulatory intergenic regions influence gene activity. In utero alcohol exposure as a result of maternal consumption during pregnancy has been associated with disruption of foetal DNA methylation and gene expressi

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Kaminsky, Zachary. "Development Of High Throughput Epigenomic Profiling Technologies And Their Application To Twin Based DNA Methylation Studies." Thesis, 2009. http://hdl.handle.net/1807/17779.

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Epigenetic studies hold the promise of addressing some of the fundamental questions of human biology including development, cell differentiation, and the aetiological mechanisms of complex disease. Over the last years, several new large scale high throughput technologies have been developed to allow genome wide profiling of epigenetic signals such as DNA methylation and histone modifications. Two of such technologies were developed in our laboratory enabling a genome wide microarray based profiling of DNA methylation signatures and a high throughput method for the site specific interrogation o

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(9133214), Jacob Louis Owens. "Protein arginine methyltransferase 5 (PRMT5) is an essential regulator of the cellular response to ionizing radiation and a therapeutic target to enhance radiation therapy for prostate cancer treatment." Thesis, 2020.

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Prostate cancer is one of the most frequently diagnosed cancers and failure to manage localized disease contributes to the majority of deaths. Radiation therapy (RT) is a common treatment for localized prostate cancer and uses ionizing radiation (IR) to damage DNA. Although RT is potentially curative, tumors often recur and progress to terminal disease. The cellular response to RT is multidimensional. For example, cells respond to a single dose of IR by activating the DNA damage response (DDR) to repair the DNA. Targeting proteins involved in the DDR is an effective clinical strategy to sensit

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Conceição, Carolina Neves. "Differential DNA methylation in aging: in silico exploration using high-throughput datasets." Master's thesis, 2018. http://hdl.handle.net/10773/24223.

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The emergence of high-throughput methodologies after the conclusion of the Human Genome Project has brought genomic and epigenomic wide studies to the forefront of current research of biological and biomedical knowledge. Currently, the focus in genetic mutations as primary cause of certain disorders is not so relevant as before, since it was demonstrated that epigenetic mechanisms are involved in cellular programming and gene regulation providing adaptive variants of a given gene to a changing environment with an association to cellular differentiation. The research in the DNA methylation fie

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Shapiro, Jonathan. "A Novel Approach to Identify Candidate Imprinted Genes in Humans." Thesis, 2012. http://hdl.handle.net/1807/32278.

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Many imprinted genes are necessary for normal human development. Approximately 70 imprinted genes have been identified in humans. I developed a novel approach to identify candidate imprinted genes in humans using the premise that imprinted genes are often associated with nearby parent-of-origin-specific DNA differentially methylated regions (DMRs). I identified parent-of-origin-specific DMRs using sodium bisulfite-based DNA (CpG) methylation profiling of uniparental tissues, mature cystic ovarian teratoma (MCT) and androgenetic complete hydatidiform mole (AnCHM), and biparental tissues, blood

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