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Dissertations / Theses on the topic 'Non coding variations'

Author: Grafiati

Published: 19 October 2024

Last updated: 31 July 2025

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1

González, Rosado Santiago. "Identification and characterization of non-coding genomic variations associated to cancer diseases." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/397789.

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The genetic and molecular bases of most of the human diseases have become one of the main goals of the human biology in the last decades. To be able to unveil the genetic variations and the affected cellular processes associated with a specific disease is crucial in order to generate accurate diagnosis and further therapies. The Next Generation Sequencing (NGS) revolution, with the associated reduction in time and costs of sequencing, has allowed the scientist to access large number of human genomes to their biomedical studies. The study of genetic disorders, cancer in particular, has benefit

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2

Masson, Aymeric. "Approches multi-omiques des anomalies transcriptionnelles dans les maladies rares du développement." Electronic Thesis or Diss., Bourgogne Franche-Comté, 2024. http://www.theses.fr/2024UBFCI006.

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L’expression des gènes passe par le processus de transcription dans le noyau des cellules eucaryotes qui produit les ARNs, intermédiaires indispensables pour former des protéines. La synthèse et le devenir des ARNs sont soumis à un contrôle complexe assuré par de nombreux acteurs incluant entre autres les séquences d'ADN non codantes régulatrices qui assurent une régulation spatio-temporelle fine de l’expression génique et les ribonucléoprotéines hétérogènes nucléaires (hnRNP) capables de lier les molécules d’ARN et de réguler leur maturation, leur stabilité et leur localisation.L'approche sta

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3

Sarkar, Abhishek Kulshreshtha. "Interpreting the role of non-coding genetic variation in human disease." Thesis, Massachusetts Institute of Technology, 2017. http://hdl.handle.net/1721.1/112026.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Electrical Engineering and Computer Science, 2017.<br>Cataloged from PDF version of thesis.<br>Includes bibliographical references (pages 101-107).<br>One of the fundamental goals of human genetics is to identify the genetic causes of human disease to ultimately design novel therapeutics. However, two challenges have become readily apparent. First, the majority of genomic regions associated with disease do not implicate protein-altering variants but might instead alter gene regulation, making interpretation and validation mor

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4

Lomelin, David. "Using human genetic variation to predict functional elements in non-coding genomic regions." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2010. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3390057.

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5

Barcons, Simon Anna. "Clonally variant non-coding RNA family and its role in Plasmodium falciparum antigenic variation." Electronic Thesis or Diss., Sorbonne université, 2019. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2019SORUS042.pdf.

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La variation antigénique est un mécanisme d'évasion immunitaire utilisé par le parasite du paludisme Plasmodium falciparum pour établir une infection prolongée. Il empêche la clairance parasitaire en modifiant l’expression des antigènes variables de surface, codés par la famille de gènes appelés « var », comprenant 60 membres. Au stade sanguin, les parasites expriment les gènes var d'une manière mutuellement exclusive, avec un seul gène var actif à un moment donné, permettant ainsi au parasite d’échapper au système immunitaire qui reste naïf envers une sous-population de parasites. Malgré les

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6

Christodoulou, Zoe. "An analysis of non-coding RNAs in Plasmodium falciparum and their potential role in antigenic variation." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:60ea27e2-1129-4914-8abd-cfad018e0353.

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A major virulence factor of the human malaria parasite Plasmodium falciparum is Plasmodium falciparum erythrocyte membrane protein 1(PfEMP-1). This protein is inserted into the erythrocyte membrane, giving cytoadherence properties. A family of genes called var, located sub-telomerically and in chromosome central clusters encode this protein. Var genes are expressed in a mutually exclusive manner, how this is controlled is unclear. A non-coding RNA (ncRNA) termed the GC-rich element (GRE) had been identified that is only located at the central clusters and is transcribed throughout the parasite

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7

Li, Jia. "Identifier les variations conduisant au cancer dans le génome non codant et du transcriptome." Thesis, Université Paris-Saclay (ComUE), 2015. http://www.theses.fr/2015SACLS161/document.

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L'annotation fonctionnelle de mutations somatiques est un point focal des études de génomique du cancer. Jusque récemment, la recherche s'est concentré sur des mutations dans la fraction codante du génome, pour lesquelles de puissants outils bioinformatiques ont été développés afin de distinguer des mutations délétères des mutations neutres. On identifie un nombre croissant de variants associés à des maladies dans le génome non-codant. L'interprétation des mutations non-codantes dans le cancer est donc devenue une tâche urgente. Des projets de grande envergure tels que ENCODE ont rendu possibl

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8

Lalaouna, David. "Role d' ARN non codants régulateurs dans l' adaptation de Pseudomonas brassicacearum à la rhizosphère et aux fluctuations de l' environnement." Thesis, Aix-Marseille, 2012. http://www.theses.fr/2012AIXM4006.

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Pseudomonas brassicacearum a la particularité de générer une diversité intraclonale aussi bien in vitro qu'en conditions naturelles dans la rhizosphère de plantes. Ce phénomène de variation phénotypique commun chez les bactéries est un processus d'adaptation aux environnements changeants. Des données de transcriptomique issues de puces à ADN, contenant aussi bien des séquences codantes que non codantes, nous ont permis d'identifier les gènes dont l'expression est altérée et surtout de relier ce phénomène à l'expression d'ARN non codants régulateurs (ARNnc) de type Rsm qui sont sous le contrôle

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9

Diffendall, Gretchen. "Deciphering the role of an RNA Pol III-transcribed non-coding RNA in Plasmodium falciparum." Electronic Thesis or Diss., Sorbonne université, 2022. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2022SORUS443.pdf.

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Le parasite protozoaire Plasmodium falciparum est l'agent causal de la forme la plus mortelle de paludisme humain. Ce pathogène utilise l'expression monoallélique de molécules d'adhésion de surface variantes, codées par la famille de gènes var, pour échapper au système immunitaire de l'hôte et provoquer une pathogenèse. On ne sait toujours pas comment l'activation du gène var fonctionne au niveau moléculaire et si des facteurs environnementaux peuvent moduler l'expression du gène var. Notre laboratoire a montré qu'une famille de gènes d'ARN non codants transcrits par Pol III, appelée RUF6, agi

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10

Lundmark, Per Erik. "Genetic and Genomic Analysis of DNA Sequence Variation." Doctoral thesis, Uppsala universitet, Molekylär medicin, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-158486.

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The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. NPC1 was found to affect hepatic triglyceride metabolism, and to be relevant for controlling serum triglyceride levels in mice and potentially in humans. In study II the utility of the HapMap CEU samples was investigated for tagSNP selection in six European populations. The HapMap CEU was found to be representative for tagSNP selection in a

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11

Palmer, Jason Allan. "Variational and scale mixture representations of non-Gaussian densities for estimation in the Bayesian Linear Model sparse coding, independent component analysis, and minimum entropy segmentation /." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2006. http://wwwlib.umi.com/cr/ucsd/fullcit?p3237562.

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Thesis (Ph. D.)--University of California, San Diego, 2006.<br>Title from first page of PDF file (viewed December 13, 2006). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references (p. 143-150).

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12

Mir, Ashfaq Ali. "Variations structurales du génome et du transcriptome humains induites par les rétrotransposons LINE-1." Electronic Thesis or Diss., Nice, 2015. http://theses.unice.fr/2015NICE4106.

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Les rétrotransposons sont des éléments génétiques mobiles qui constituent presque la moitié de notre génome. Seule la sous-famille L1HS appartenant à la classe des Long Interspersed Element-1(LINE-1 ou L1) a gardé une capacité de mobilité autonome chez l’Homme. Leur mobilisation dans la lignée germinale, mais Aussi dans certains tissus somatiques, contribue à la diversité du génome humain ainsi qu’à certaines maladies comme le cancer. Ainsi, de nouvelles copies de L1 peuvent directement s'intégrer dans des séquences codantes ou régulatrices, et altérer leur fonction. De plus, les séquences L1

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13

Mir, Ashfaq Ali. "Variations structurales du génome et du transcriptome humains induites par les rétrotransposons LINE-1." Thesis, Nice, 2015. http://www.theses.fr/2015NICE4106.

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Les rétrotransposons sont des éléments génétiques mobiles qui constituent presque la moitié de notre génome. Seule la sous-famille L1HS appartenant à la classe des Long Interspersed Element-1(LINE-1 ou L1) a gardé une capacité de mobilité autonome chez l’Homme. Leur mobilisation dans la lignée germinale, mais Aussi dans certains tissus somatiques, contribue à la diversité du génome humain ainsi qu’à certaines maladies comme le cancer. Ainsi, de nouvelles copies de L1 peuvent directement s'intégrer dans des séquences codantes ou régulatrices, et altérer leur fonction. De plus, les séquences L1

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14

Guo, Cong. "Dissecting the Functional Impacts of Non-Coding Genetic Variation." Diss., 2016. http://hdl.handle.net/10161/12170.

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<p>A large proportion of the variation in traits between individuals can be attributed to variation in the nucleotide sequence of the genome. The most commonly studied traits in human genetics are related to disease and disease susceptibility. Although scientists have identified genetic causes for over 4,000 monogenic diseases, the underlying mechanisms of many highly prevalent multifactorial inheritance disorders such as diabetes, obesity, and cardiovascular disease remain largely unknown. Identifying genetic mechanisms for complex traits has been challenging because most of the variants are

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15

Murphy, David. "Broad-scale variation in human genetic diversity levels is predicted by purifying selection on coding and non-coding elements." Thesis, 2021. https://doi.org/10.7916/d8-hxnz-fj19.

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Genome-wide neutral diversity levels are shaped by both positive and purifying selection on linked sites. In humans like most species, the relative importance of these types of selection in shaping patterns of neutral diversity remains an open question. We can infer their relative contribution from observed patterns of neutral diversity by using information about recombination rates and targets of natural selection. To this end, I fit a joint model of the effects of positive selection (selective sweeps) and purifying selection (background selection) to genetic polymorphism data from the 1000 G

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16

Zenger, Kyall Richard, University of Western Sydney, Faculty of Science and Technology, and School of Science. "The genetic variation and evolution of the mitochondrial DNA non-coding region in Australian wild rabbit populations (Oryctolagus Cuniculus (L))." 1996. http://handle.uws.edu.au:8081/1959.7/24805.

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The extent of genetic structuring of a population results from a balance of forces producing local genetic differentiation, and counter-forces producing genetic homogeneity. An understanding of these forces is essential when investigating evolutionary processes in a species. It has been predicted that, when populations experience severe reductions in size, they lose genetic variability. Small population size may occur as a consequence of founder events, such as with the introduction and spread of a pest species. The predictions as described were examined by studying the molecular evolution and

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17

Zenger, Kyall Richard. "The genetic variation and evolution of the mitochondrial DNA non-coding region in Australian wild rabbit populations (Oryctolagus Cuniculus (L))." Thesis, 1996. http://handle.uws.edu.au:8081/1959.7/24805.

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The extent of genetic structuring of a population results from a balance of forces producing local genetic differentiation, and counter-forces producing genetic homogeneity. An understanding of these forces is essential when investigating evolutionary processes in a species. It has been predicted that, when populations experience severe reductions in size, they lose genetic variability. Small population size may occur as a consequence of founder events, such as with the introduction and spread of a pest species. The predictions as described were examined by studying the molecular evolution and

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18

vanderVaart, Sondra. "A Double-blinded Randomized Controlled Trial on the Effect of Distant Reiki on Pain after Non-emergency Caesarean Section and the Effect of CYP2D6 Variation on Codeine Analgesia." Thesis, 2011. http://hdl.handle.net/1807/31961.

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Codeine-containing medication is commonly used for pain after c-section. In most people, 10% of codeine is biotransformed into morphine by the Cytochrome P450 enzyme 2D6 (CYP2D6). Individuals who convert up to 50 fold more codeine into morphine, ultrarapid metaboizers, are at a greater risk for adverse effects. Conversely poor metabolizers, individuals who convert almost no codeine into morphine, are at risk for untreated pain. The pharmacodynamic relationship between codeine-analgesia and CYP2D6 genotype is studied for possible development of a titration model. To minimize these treatment

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19

Goodfellow, Ian. "Deep learning of representations and its application to computer vision." Thèse, 2014. http://hdl.handle.net/1866/11674.

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