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Dissertations / Theses on the topic 'Repeat instabilty'

Author: Grafiati

Published: 19 October 2024

Last updated: 31 July 2025

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1

Pontual, Laure de. "Identification de nouveaux facteurs chimiques capables de moduler l'instabilité des répétitions CTG dans la dystrophie myotonique de type 1." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS198.pdf.

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La dystrophie myotonique de type 1 (DM1) est la dystrophie la plus fréquente chez l'adulte avec une prévalence estimée à 1 : 8000 individus. C'est une maladie multi-systémique caractérisée par des atteintes musculaires, cardiaques, cognitives et digestives responsables d'une réduction de l'espérance et de la qualité de vie des patients. Elle est causée par une expansion anormale de répétitions CTG en 3'UTR du gène DMPK. Dans la population générale, le nombre de répétitions est inférieur à 35 CTG tandis qu'il dépasse 50 CTG et peut atteindre jusqu'à plusieurs milliers de répétitions chez les pa

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2

Gadgil, Rujuta Yashodhan. "Instability at Trinucleotide Repeat DNAs." Wright State University / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=wright1472231204.

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3

Ubink-Bontekoe, Carola Jacoba Maria. "CGG repeat instability and FXR proteins." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2001. http://hdl.handle.net/1765/12091.

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4

Beaver, Jill M. "Trinucleotide Repeat Instability is Modulated by DNA Base Lesions and DNA Base Excision Repair." FIU Digital Commons, 2016. http://digitalcommons.fiu.edu/etd/3056.

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Trinucleotide repeat (TNR) expansions are the cause of over 40 human neurodegenerative diseases, and are linked to DNA damage and base excision repair (BER). We explored the role of DNA damage and BER in modulating TNR instability through analysis of DNA structures, BER protein activities, and reconstitution of repair using human BER proteins and synthesized DNA containing various types of damage. We show that DNA damage and BER can modulate TNR expansions by promoting removal of a TNR hairpin through coordinated activities of BER proteins and cofactors. We found that during repair in a TNR ha

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5

Ueki, Junko. "Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability." Kyoto University, 2018. http://hdl.handle.net/2433/230991.

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6

Schmidt, Kristina H. "CTG trinucleotide repeat instability in Escherichia coli." Thesis, University of Edinburgh, 1999. http://hdl.handle.net/1842/14353.

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In order to identify cellular factors that affect trinucleotide repeat stability, changes in the length of a (CTG)<sub>43</sub> repeat were studied over 140 generations in wild-type <i>Escherichia coli</i> and in strains that are deficient in post-replicative mismatch repair, secondary structure repair and homologous recombination. It is shown that (CTG)<sub>43</sub> inserted into pUC18 expands and contracts in wild-type <i>E. coli</i> in an orientation-dependent manner that is unaffected by transcription. In cells deficient in post-replicative mismatch repair (CTG)<sub>43</sub> repeat instabi

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7

Zahra, Rabaab. "CAG.CTG trinucleotide repeat instability in the E.coli chromosome." Thesis, University of Edinburgh, 2006. http://hdl.handle.net/1842/11667.

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In order to identify the molecular basis of genetic instability, a polymerization-independent strategy is developed to generate expanded repeat arrays. The repeat tracts are integrated in the 5’end of <i>lacZ</i> gene in the <i>Escherichia coli</i> chromosome. Using this model system, instability is studied in wild type <i>E. coli</i> and in strains deficient in cellular pathways such as DNA repair, replication and recombination. The work demonstrates that instability (expansion and contraction) in wild type cells is length and orientation dependent. Longer tracts are more unstable than shorte

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8

Chan, Kara Y. "MECHANISMS OF TRINUCLEOTIDE REPEAT INSTABILITY DURING DNA SYNTHESIS." UKnowledge, 2019. https://uknowledge.uky.edu/toxicology_etds/29.

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Genomic instability, in the form of gene mutations, insertions/deletions, and gene amplifications, is one of the hallmarks in many types of cancers and other inheritable genetic disorders. Trinucleotide repeat (TNR) disorders, such as Huntington’s disease (HD) and Myotonic dystrophy (DM) can be inherited and repeats may be extended through subsequent generations. However, it is not clear how the CAG repeats expand through generations in HD. Two possible repeat expansion mechanisms include: 1) polymerase mediated repeat extension; 2) persistent TNR hairpin structure formation persisting in the

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9

Pickett, Hilda A. "Molecular characterisation of instability in human telomere repeat arrays." Thesis, University of Leicester, 2002. http://hdl.handle.net/2381/30343.

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Telomere instability was investigated at the proximal ends of human telomeres in normal and abnormal cells, with the aim to identify the frequency and types of mutations underlying telomere repeat turnover. Analysis of the interspersion patterns of telomere and variant repeat types at the proximal ends of the 12q and Xp/Yp telomeres in human pedigrees gave a germline mutation frequency of 0.6% per telomere per gamete over the proximal 1kb of the telomere repeat array. No somatic telomere mutations were identified in normal fibroblast cells, but the upper limit for the mutation frequency was es

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10

Chan, Nelson Lap Shun. "IDENTIFICATION OF ACTIVITIES INVOLVED IN CAG/CTG REPEAT INSTABILITY." UKnowledge, 2011. http://uknowledge.uky.edu/gradschool_diss/832.

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CAG/CTG repeat instability is associated with at least 14 neurological disorders, including Huntington’s disease and Myotonic dystrophy type 1. In vitro and in vivo studies have showed that CAG/CTG repeats form a stable hairpin that is believed to be the intermediate for repeat expansion and contraction. Addition of extra DNA is essential for repeat expansion, so DNA synthesis is one of the keys for repeat expansion. In vivo studies reveal that 3’ CTG slippage with subsequent hairpin formation (henceforth called the 3’ CTG slippage hairpin) occurs during DNA synthesis. It is proposed that hair

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11

Warner, Stuart A. "Roles of recombination in trinucleotide repeat instability in E.coli." Thesis, University of Edinburgh, 2002. http://hdl.handle.net/1842/13211.

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12

Mihaescu, Camelia. "Investigation of trinucleotide repeat instability in the Escherichia coli chromosome." Thesis, University of Edinburgh, 2002. http://hdl.handle.net/1842/12655.

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The expansion of trinucleotide repeat tracts is the cause of nearly twenty genetic disorders. Almost all these diseases are characterised by anticipation, which means an earlier age of onset and an increased severity of the symptoms from one generation to the next. The mechanisms of trinucleotide repeat expansion are not understood. In the course of this project, I have investigated the instability of a trinucleotide repeat array of 43 copies integrated at the <i>attB </i>site of chromosomes of various <i>Escherichia coli </i>mutants. The trinucleotide repeat tract (CTG)<sub>43 </sub>was integ

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13

Ren, Yaou. "Trinucleotide Repeat Instability Modulated by DNA Repair Enzymes and Cofactors." FIU Digital Commons, 2018. https://digitalcommons.fiu.edu/etd/3762.

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Trinucleotide repeat (TNR) instability including repeat expansions and repeat deletions is the cause of more than 40 inherited incurable neurodegenerative diseases and cancer. TNR instability is associated with DNA damage and base excision repair (BER). In this dissertation research, we explored the mechanisms of BER-mediated TNR instability via biochemical analysis of the BER protein activities, DNA structures, protein-protein interaction, and protein-DNA interaction by reconstructing BER in vitro using synthesized oligonucleotide TNR substrates and purified human proteins. First, we evaluate

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14

Barber, Ruth Caroline. "Radiation-induced instability at mouse expanded simple tandem repeat (ESTR) loci." Thesis, University of Leicester, 2002. http://hdl.handle.net/2381/34456.

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Expanded Simple Tandem Repeat (ESTR) loci provide a useful system to assess the effect of exposure to ionising radiation on the germline of male mice; however, little is known about the mutation mechanism(s) at these loci. Information about mutation processes at these loci may provide important clues concerning the damaging effects of irradiation at the DNA level. A number of approaches have been used to investigate possible mutation mechanisms. No correlation was observed between the levels of meiotic recombination and ESTR mutation rate in the germline of exposed male mice, ruling out the po

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15

Narayanan, Vidhya. "Inverted repeats as a source of eukaryotic genome instability." Diss., Atlanta, Ga. : Georgia Institute of Technology, 2008. http://hdl.handle.net/1853/24774.

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Thesis (Ph.D.)--Biology, Georgia Institute of Technology, 2009.<br>Committee Chair: Lobachev, Kirill; Committee Co-Chair: Chernoff, Yury; Committee Member: Crouse, Gray; Committee Member: Goodisman, Michael; Committee Member: Streelman, Todd.

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16

Xu, Meng. "Oxidative DNA Damage Modulates Trinucleotide Repeat Instability Via DNA Base Excision Repair." FIU Digital Commons, 2014. http://digitalcommons.fiu.edu/etd/1576.

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Trinucleotide repeat (TNR) expansion is the cause of more than 40 types of human neurodegenerative diseases such as Huntington’s disease. Recent studies have linked TNR expansion with oxidative DNA damage and base excision repair (BER). In this research, we provided the first evidence that oxidative DNA damage can induce CAG repeat deletion/contraction via BER. We found that BER of an oxidized DNA base lesion, 8-oxoguanine in a CAG repeat tract, resulted in the formation of a CTG hairpin at the template strand. DNA polymerase β (pol b) then skipped over the hairpin creating a 5’-flap that was

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17

Kim, Hyun-Min. "Genome instability induced by triplex forming mirror repeats in S.cerevisiae." Diss., Georgia Institute of Technology, 2009. http://hdl.handle.net/1853/33874.

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The main goal of this research is to understand molecular mechanisms of GAA/TTC-associated genetic instability in a model eukaryotic organism, S. cerevisiae. We demonstrate that expanded GAA/TTC repeats represent a threat to eukaryotic genome integrity by triggering double-strand breaks and gross chromosomal rearrangements. The fragility potential strongly depends on the length of the tracts and orientation of the repeats relative to the replication origin and to block replication fork progression. MutSbeta complex and endonuclease activity of MutLalpha play an important role in facilitation o

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18

Rindler, Paul Michael. "Eukaryotic replication, cis-acting elements, and instability of trinucleotide repeats." Oklahoma City : [s.n.], 2009.

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19

Bourn, Rebecka Lynn. "Effects of the mismatch repair system on instability of trinucleotide repeats." Oklahoma City : [s.n.], 2009.

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20

Zhang, Yu. "Mechanisms of chromosomal instability induced by unstable DNA repeats in yeast S.cerevisiae." Diss., Georgia Institute of Technology, 2013. http://hdl.handle.net/1853/52185.

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DNA repetitive sequences capable of adopting non-B DNA structures are a potent source of instability in eukaryotic genomes. They are strong inducers of chromosomal fragility and genome rearrangements that cause various hereditary diseases and cancers. In addition, a subset of repeats also has an ability to expand, which leads to more than 20 human genetic diseases that are collectively known as repeat expansion diseases. However, the mechanisms underlying the potential of these structure-prone motifs to break and expand are largely unknown. In this study, a systematic genome-wide screen w

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21

Seriola, Petit Anna. "Pluripotent stem cells as research models: the examples of trinucleotide repeat instability and X-chromosome inactivation." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/325148.

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Els models de malalties són una eina bàsica per la comprensió de les malalties humanes. Actualment, la majoria de la informació de la que disposem de malalties humanes es basa en models animals. Tot i això, els models animals difereixen molecular i fenotípicament dels humans, i no sempre reprodueixen fidelment la malaltia humana. En les últimes dècades, les cèl·lules mare humanes s’han establert com una opció molt interessant en el camp de la modelització cel·lular. En aquest treball hem volgut caracteritzar les cèl·lules mare embrionàries com a models per a l’estudi de la inestabilitat de la

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22

Jones, Hope. "Genetic Characterization and Analysis of Cis and Trans-elements That Facilitate Genome Stability in Saccharomyces cerevisiae." Diss., The University of Arizona, 2010. http://hdl.handle.net/10150/193584.

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Chromosomal fragile sites are specific loci associated with a high frequency of breakage and recombination. A cell's ability to repair and/or replicate through a lesion is prerequisite to the maintenance of genomic stability. An improved understanding of fragile site biology and its contribution to replication defects and genomic instability is critical for prevention, intervention, and diagnosis of genetic diseases such as cancer. This work seeks to identify and characterize both trans and cis fragile sites associated elements involved in instability onset and progression. An array of Sacc

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23

Jackson, Adam. "Effect of helicases on the instability of CTG・CAG trinucleotide repeat arrays in the escherichia coli chromosome." Thesis, University of Edinburgh, 2010. http://hdl.handle.net/1842/4782.

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A trinucleotide repeat (TNR) is a 3 base pair (bp) DNA sequence tandemly repeated in an array. In humans, TNR sequences have been found to be associated with at least 14 severe neurological diseases including Huntington disease, myotonic dystrophy and several of the spinocerebellar ataxias. Such diseases are caused by an expansion of the repeat sequence beyond a threshold length and are characterized by non-Mendelian patterns of inheritance which lead to genetic anticipation. Although the mechanism of the genetic instability in these arrays is not yet fully understood, various models have been

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24

Dere, Ruhee J. "The molecular mechanisms involved in the genetic instability of the CCTG. CAGG repeats associated with myotonic dystrophy type 2." Texas A&M University, 2005. http://hdl.handle.net/1969.1/3783.

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Myotonic dystrophy type 2 (DM2) is caused by the extreme expansion (from < 30 repeats in normal individuals to ~ 11,000 for the full mutation in certain patients) of the repeating tetranucleotide CCTGÂCAGG sequence in the intron of the zinc finger protein 9 (ZNF9) gene. The genetic instabilities of the CCTGÂCAGG repeats were investigated to evaluate the molecular mechanisms responsible for these massive expansions. The effects of replication, recombination, repair and transcription on the genetic instabilities have been investigated in COS-7 cells and E. coli model systems. A replication ass

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25

Fortune, Maria Teresa. "Developmental timing and the role of cis and trans acting modifiers on CTG repeat instability in murine models." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.341709.

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26

Tian, Lei. "BIOCHEMICAL CHARACTERIZATION OF HUMAN MISMATCH RECOGNITION PROTEINS MUTSα AND MUTSβ". UKnowledge, 2010. http://uknowledge.uky.edu/gradschool_diss/43.

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The integrity of an organism's genome depends on the fidelity of DNA replication and the efficiency of DNA repair. The DNA mismatch repair (MMR) system, which is highly conserved from prokaryotes to eukaryotes, plays an important role in maintaining genome stability by correcting base-base mismatches and insertion/deletion (ID) mispairs generated during DNA replication and other DNA transactions. Mismatch recognition is a critical step in MMR. Two mismatch recognition proteins, MutSα (MSH2-MSH6 heterodimer) and MutSβ (MSH2-MSH3 heterodimer), have been identified in eukaryotic cells. MutSα and

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27

Kaochar, Salma. "Fusion of Inverted Repeats Leads to Formation of Dicentric Chromosomes that Cause Genome Instability in Budding Yeast." Diss., The University of Arizona, 2010. http://hdl.handle.net/10150/204271.

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Large-scale changes are common in genomes, and are often associated with pathological disorders. In the work presented in this dissertation, I provide insights into how inverted repeat sequences in budding yeast fuse during replication. Fusion leads to the formation of dicentric chromosomes, a translocation, and other chromosomal rearrangements.Using extensive genetics and some molecular analyses, I demonstrate that dicentric chromosomes are key intermediates in genome instability of a specific chromosome in budding yeast. I provide three pieces of evidence that is consistent with this conclu

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Paek, Andrew Luther. "Formation of Dicentric and Acentric Chromosomes, by a Template Switch Mechanism, in Budding Yeast." Diss., The University of Arizona, 2010. http://hdl.handle.net/10150/194260.

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Chromosomal rearrangements occur in all organisms and are important both in the evolution of species and in pathology. In this dissertation I show that in Saccharomyces cerevisiae, or budding yeast, one type of chromosomal rearrangement occurs when inverted repeats fuse, likely during DNA replication by a novel mechanism termed "faulty template switching". This fusion can lead to the formation of either a dicentric or acentric chromosome, depending on the direction of the replication fork. Dicentric chromosomes are inherently unstable due to their abnormal number of centromeres, and thus un

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29

Greene, Malorie. "Étude des conséquences génomiques et fonctionnelles de l'instabilité des microsatellites dans le cancer colorectal." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066592/document.

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L’instabilité des séquences répétées microsatellites du génome (courtes répétitions en tandem d’un à cinq nucléotides) est une conséquence de l’inactivation du système MMR (MisMatch Repair), en charge de la réparation des erreurs produites au cours de la réplication de l’ADN. Cette instabilité est associée à un processus de transformation cellulaire original, observé chez l’homme dans des pathologies tumorales fréquentes, nommées MSI (pour Microsatellite Instability). Les localisations primaires les plus fréquentes de ces tumeurs sont le côlon, l’endomètre et l’estomac. Elles peuvent avoir une

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30

Ezzatizadeh, Vahid. "Friedreich ataxia : investigating the relationships between mismatch repair gene expression, FXN gene expression and GAA repeat instability in human and mouse cells and tissues." Thesis, Brunel University, 2012. http://bura.brunel.ac.uk/handle/2438/7626.

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Friedreich ataxia (FRDA) is the most common inherited ataxia disorder, caused by a GAA repeat expansion mutation within the first intron of the FXN gene. The subsequent deficiency of frataxin protein leads to neurological disability, increased risk of diabetes mellitus, cardiomyopathy and premature death. The exact FRDA disease mechanism is not yet clear, despite some understanding of epigenetic, transcriptional and DNA repair system effects that lead to frataxin reduction. Previous studies have shown that mismatch repair (MMR) genes can affect other trinucleotide repeat disorders by destabili

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31

Abdelrazik, Donia. "The determinants of audit fees and report lag : a comparative study of Egypt and the UK." Thesis, University of Plymouth, 2017. http://hdl.handle.net/10026.1/9510.

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The determinants of audit fees and report lag: A comparative study of Egypt and the UK Despite the occurrence of recent economic and political events such as the global financial crisis and Arab spring in the Middle East, researchers have not addressed the effects of such events on the auditing profession. That is has given a motive to this study to explore this point of research. This study has three main objectives. The first objective is to investigate the determinants of audit fees and audit report timeliness in the Egyptian and UK contexts. The second objective is to point out how the eco

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32

Ithurbide, Solenne. "Variabilité génétique chez la bactérie radiorésistante Deinococcus radiodurans : la recombinaison entre séquences répétées et la transformation naturelle." Thesis, Paris 11, 2015. http://www.theses.fr/2015PA112193/document.

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La bactérie Deinococcus radiodurans est connue pour sa capacité à résister à un grand nombre de traitements génotoxiques parmi lesquels on peut citer l’exposition aux rayons ionisants, aux ultra-violets, à la mitomycine C, à la dessication et au stress oxydant. Elle est capable lors d’une exposition à des doses extrêmes de rayons γ générant des centaines de cassures de l’ADN de reconstituer un génome intact en seulement 2 à 3 heures via un mécanisme original, l’ESDSA, impliquant une synthèse massive d’ADN pendant la phase de réparation des cassures de l’ADN. En plus de mécanismes efficaces de

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33

Martinez, Marcos Antonio Rodrigues. ""Estudo das alterações dos microssatélites D6S251 e D6S252 no carcinoma basocelular esporádico"." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/5/5133/tde-10052006-163753/.

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Existe grande interesse na determinação das bases genéticas do carcinoma basocelular (CBC) que expliquem seu fenótipo pouco agressivo e comportamento metastático infreqüente. Investigamos a instabilidade de microssatélites (MSI) e perda de heterozigosidade (LOH) nos microssatélites D6S251 (6q14) e D6S252 (6q16) de CBCs esporádicos de alto e baixo risco histológico através da análise de bandas obtidas pelo gel de poliacrilamida após PCR em comparação com o tecido normal. Não houve alteração do microssatélite D6S252 nas 15 amostras estudadas. Para o microssatélite D6S251, houve alterações em 6 d

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34

Chen, Xiaomi. "Aberrant DNA Replication at an Ectopic Chromosomal Site in Human Cells." Wright State University / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=wright1302884072.

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35

Grillo, Giacomo. "The ICF syndrome and emergent players in DNA methylation and development : when studying a rare genetic disease sheds new light on an "old" field." Thesis, Sorbonne Paris Cité, 2017. http://www.theses.fr/2017USPCC300/document.

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La méthylation de l'ADN est un processus vital pour le développement des mammifères. Sa distribution anormale,notamment au niveau des régions répétées du génome, est une signature pathologique. La découverte de maladies héréditaires touchant la stabilité du génome a permis des avancées considérables dans l'identification des acteurs et des mécanismes. Nous avons choisi d'étudier le syndrome ICF (Immunodéficience, instabilité Centromérique et anomalies Faciales), première maladie génétique identifiée avec des défauts de la méthylation de l’ADN, liés à une instabilité chromosomique. Lorsque j'ai

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36

Hureau, Thomas. "Mécanismes de régulation du niveau de fatigue périphérique à l'exercice : implications sur la performance motrice et applications à l'exercice réalisé sur plateforme élisphérique." Thesis, Nice, 2015. http://www.theses.fr/2015NICE4011.

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Cette thèse porte sur l’étude des mécanismes de régulation du niveau de fatigue périphérique à l’exercice et sur les conséquences de cette régulation sur la capacité de performance motrice. Nous avons tout d’abord démontré que la puissance est étroitement régulée au cours de sprints répétés – épreuve au cours de laquelle la commande motrice est recrutée à son niveau maximal volontaire – de sorte qu’un seuil critique de fatigue périphérique ne soit jamais dépassé. Nous avons ensuite montré qu’il existe un lien étroit entre l’atteinte de ce seuil critique de fatigue et l’arrivée à une phase de p

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37

Missirlis, Perseus Ioannis. "CIS-features mediating CAG/CTG repeat instability the Satellog database, and candidate repeat prioritization in schizophrenia." Thesis, 2004. http://hdl.handle.net/2429/15767.

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Polyglutamine repeat expansions in the coding regions of unrelated genes have been implicated in the neurodegenerative phenotype of nine separate diseases. However, little is known about the role of flanking c/'s-sequences in mediating this repeat instability. Brock et al. identified an association between flanking GC content and CAG/CTG repeat instability at many of these disease loci by using a relative measure of repeat instability called 'expandability'. Using this measure, we have extended the analysis of Brock and colleagues and utilized the expandability metric to associate other

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38

Cleary, John. "DNA Replication and Trinucleotide Repeat Instability in Myotonic Dystrophy Type 1." Thesis, 2010. http://hdl.handle.net/1807/24723.

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The expansion of gene-specific trinucleotide repeats is responsible for a growing list of human disorders, including myotonic dystrophy type 1 (DM1). Repeat instability for most of these disorders, including DM1, is characterized by complex patterns of inherited and ongoing tissue-specific instability and pathogenesis. While the mechanistic basis behind the unique locus-specific instability of trinucleotide repeats is currently unknown, DNA metabolic processes are likely to play a role. My thesis involves investigating the contribution of DNA replication to the trinucleotide instability of

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39

"Microsatellite instability in the evolution of cervical neoplasm." 2001. http://library.cuhk.edu.hk/record=b5890890.

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Poon Kin-yan.<br>Thesis (M.Phil.)--Chinese University of Hong Kong, 2001.<br>Includes bibliographical references (leaves 119-147).<br>Abstracts in English and Chinese.<br>ACKNOWLEDGMENT --- p.i<br>ABSTRACT --- p.iii<br>ABBREVIATIONS --- p.viii<br>TABLE OF CONTENTS --- p.x<br>Chapter CHAPTER I --- INTRODUCTION --- p.1<br>Chapter 1.1 --- Cervical Intraepithelial Neoplasia (CIN) and Cervical Cancer --- p.1<br>Chapter 1.1.1 --- Epidemiology --- p.3<br>Chapter 1.1.1.1 --- Descriptive Epidemiology --- p.4<br>Chapter 1.1.1.2 --- Risk Factors --- p.7<br>Chapter 1.1.2 --- Pathology --- p.22<b

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40

"Microsatellite instability and its significance in cervical and endometrial cancers." 1999. http://library.cuhk.edu.hk/record=b5889973.

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Ip Toi Yan.<br>Thesis (M.Phil.)--Chinese University of Hong Kong, 1999.<br>Includes bibliographical references (leaves 81-105).<br>Abstracts in English and Chinese.<br>CONTENTS --- p.i-iii<br>ACKNOWLEDGEMENT --- p.iv<br>ABSTRACT --- p.v-vi<br>Chapter Chapter One --- INTRODUCTION --- p.1-2<br>Chapter Chapter Two --- LITERATURE REVIEW --- p.3-37<br>Chapter 2.1 --- Epidemiology and Etiology of Cervical and Endometrial Cancers --- p.3-4<br>Chapter 2.1.1 --- Epidemiology and Etiology of Cervical cancer --- p.4<br>Chapter 2.1.1.1 --- Incidence and Mortality --- p.4-6<br>Chapter 2.1.1.2 --- E

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Neto, João Luís Aguiar Martins. "CAG repeat instability in Huntington's disease: insights from HD patients and mouse models." Doctoral thesis, 2017. https://repositorio-aberto.up.pt/handle/10216/108073.

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Neto, João Luís Aguiar Martins. "CAG repeat instability in Huntington's disease: insights from HD patients and mouse models." Tese, 2017. https://repositorio-aberto.up.pt/handle/10216/108073.

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Liaw, Ying-Hsuan, and 廖盈瑄. "Conservation of human coding mononucleotide repeat mutants in mouse microsatellite instability-high tumors." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/8mr8kw.

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碩士<br>國立臺灣大學<br>基因體暨蛋白體醫學研究所<br>107<br>DNA mismatch repair mechanism (MMR) plays a critical role in maintaining the stability of the genome. Loss of MMR function leads to the accumulation of mutations and promotes tumorigenesis. Microsatellite instability (MSI) is the hallmark of MMR-deficient cancers. Microsatellites are one to six nucleotide repeats, located in either coding or non-coding regions. These repeats are prone to errors and frequently change in size during DNA replication. Normally, the errors are repaired through MMR. In other words, the lengths of microsatellites can be altered

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"Microsatellite instability and cyclooxygenase-2 expression in gastric carcinogensis." 2001. http://library.cuhk.edu.hk/record=b6073374.

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by Wai-keung Leung.<br>Thesis (M.D.)--Chinese University of Hong Kong, 2001.<br>Includes bibliographical references (p. 217-232).<br>Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web.<br>Mode of access: World Wide Web.

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Ch, Nimilitha. "Probing the role of RNA-DNA hybrids in instigating trinucleotide repeat instability and their interaction with RNase H1." Thesis, 2014. http://raiith.iith.ac.in/68/1/BO12M1001.pdf.

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R-loops are transient intermediates that are formed during the transcription and consist of an RNA-DNA hybrid that is formed between the nascent RNA strand and the template DNA strand and a displaced non-template DNA strand. Formation of R-loops have been detected in organisms from bacteria to humans. If R-loops form more frequently, they impact transcription affecting genome stability, genome integrity and cause a number of diseases. Recently, genome instability caused due to stable RNA-DNA hybrid in R-loop was shown to predominantly associate with expansion of trinucleotide repeats, le

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Figueiredo, Ana Sofia Tavares. "Relevance of epigenetics in the pathogenic mechanism of spinocerebellar ataxia type 37." Master's thesis, 2020. http://hdl.handle.net/10362/111133.

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Spinocerebellar ataxia 37 (SCA37) is an autosomal-dominant neurodegenerative disease characterized by cerebellar atrophy, gait and limb incoordination, and dysarthria as the first symptom. SCA37 is caused by an (ATTTC)n insertion within a nonpathogenic (ATTTT)n located in a 5’ UTR intron of DAB1. The age of onset in patients correlates with the number of ATTTCs and there is an increase in repeat insertion size during transmission to the next generation, with larger increases when the father is the transmitting parent. Haplotype analysis suggested that genetic factors flanking the mutant allele

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