Gotowe bibliografie tematyczne / Trinucleotides / Rozprawy doktorskie
Kliknij ten link, aby zobaczyć inne rodzaje publikacji na ten temat: Trinucleotides.

Rozprawy doktorskie na temat „Trinucleotides”

Autor: Grafiati
Data publikacji: 3 czerwca 2025
Data aktualizacji: 31 lipca 2025

Utwórz poprawne odniesienie w stylach APA, MLA, Chicago, Harvard i wielu innych

Wybierz rodzaj źródła:

Sprawdź 50 najlepszych rozpraw doktorskich naukowych na temat „Trinucleotides”.

Przycisk „Dodaj do bibliografii” jest dostępny obok każdej pracy w bibliografii. Użyj go – a my automatycznie utworzymy odniesienie bibliograficzne do wybranej pracy w stylu cytowania, którego potrzebujesz: APA, MLA, Harvard, Chicago, Vancouver itp.

Możesz również pobrać pełny tekst publikacji naukowej w formacie „.pdf” i przeczytać adnotację do pracy online, jeśli odpowiednie parametry są dostępne w metadanych.

Przeglądaj rozprawy doktorskie z różnych dziedzin i twórz odpowiednie bibliografie.

1

Devys, Didier. "Etude moleculaire de deux maladies dues a des expansions de trinucleotides." Université Louis Pasteur (Strasbourg) (1971-2008), 1996. http://www.theses.fr/1996STR13030.

Pełny tekst źródła
Streszczenie:
Depuis 1991, des expansions de trinucleotides ont ete retrouvees pour 10 maladies genetiques, alors que ce type de mutation etait inconnu jusqu'alors. Leur mode de transmission presente des caracteristiques tres inhabituelles: biais de transmission parentale des formes les plus severes, augmentation au cours des generations successives du risque de developper la maladie (x fragile) ou de la severite et precocite des manifestations cliniques (anticipation dans la maladie de steinert ou la choree de huntingon). Le syndrome de l'x fragile est du a une expansion instable d'une repetition de trinuc
Style APA, Harvard, Vancouver, ISO itp.
2

Chen, Jinquan. "Femtosecond Transient Absorption Study of Excited-State Dynamics in DNA Model Systems:Thymine-dimer Containing Trinucleotides, Alternate Nucleobases,and Modified Backbone Dinucleosides." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1343762303.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
3

LIA, ANNE-SOPHIE. "Dystrophie myotonique de steinert : du developpement foetal humain a un modele transgenique murin - mecanismes et consequences de l'instabilite des trinucleotides ctg repetes." Paris 7, 1998. http://www.theses.fr/1998PA077249.

Pełny tekst źródła
Streszczenie:
La dystrophie myotonique de steinert (dm), maladie autosomique dominante, est la dystrophie musculaire la plus frequente de l'adulte. Une aggravation et une precocite des symptomes au cours des generations successives est observee (phenomene d'anticipation). Le defaut moleculaire correspond a l'amplification d'un trinucleotide repete ctg localise dans la partie 3' non traduite du gene dmpk, codant une serine-threonine kinase. Cette these a pour objectif la comprehension des mecanismes et des consequences de l'instabilite des repetitions ctg dans la dm. Dans une premiere partie, nous avons etud
Style APA, Harvard, Vancouver, ISO itp.
4

Yuan, Qiu-Ping. "Trinucleotide repeats and neuropsychiatric phenotypes /." Stockholm : [Karolinska institutets bibl.], 2001. http://diss.kib.ki.se/2001/91-7349-058-X/.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
5

Worthey, Elizabeth Anabel. "The evolution of trinucleotide repeats." Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.426078.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
6

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

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
7

Zajac, Pawel. "Parallel target selection by trinucleotide threading." Doctoral thesis, KTH, Genteknologi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-11284.

Pełny tekst źródła
Streszczenie:
DNA is the code for all life. Via intermediary RNA the information encoded by the genome is relayed to proteins executing the various functions in a cell. Together, this repertoire of inherently linked biological macromolecules determines all characteristics and features of a cell. Technological advancements during the last decades have enabled the pursuit of novel types of studies and the investigation of the cell and its constituents at a progressively higher level of detail. This has shed light on numerous cellular processes and on the underpinnings of several diseases. For the majority of
Style APA, Harvard, Vancouver, ISO itp.
8

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
9

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
10

Darlow, John M. J. M. "Secondary structure in trinucleotide repeat DNA in vivo." Thesis, University of Edinburgh, 1999. http://hdl.handle.net/1842/13566.

Pełny tekst źródła
Streszczenie:
By inserting different numbers of different trinucleotides into the centre of a long palindrome it has been possible to investigate their tendencies to form hairpins <I>in vivo</I> in any particular alignment and with odd or even numbers of repeat units in the hairpin. It is shown that with d(CAG)<SUP>.</SUP>d(CTG) repeat tracts there is a markedly greater tendency to form hairpins with even numbers of repeat units than with odd numbers whereas d(GAC)<SUP>.</SUP>d(GTC) repeats (which are rare, short, and have not been found to expand) show no such alternation despite having the same base compo
Style APA, Harvard, Vancouver, ISO itp.
11

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
12

Gomes-Pereira, Mario. "Genetic and environmental modifiers of somatic trinucleotide repeat dynamics." Thesis, University of Glasgow, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.247761.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
13

Gonitel, Roman. "Examination of somatic CAG trinucleotide instability in Huntington's disease." Thesis, King's College London (University of London), 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.430066.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
14

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

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
15

Lindblad, Kerstin. "Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders /." Stockholm, 1998. http://diss.kib.ki.se/search/diss.se.cfm?19980904lind.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
16

Pinheiro, Philip Mark. "A study of RNA trinucleotide repeats involved in myotonic dystrophy." Thesis, University of Portsmouth, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286084.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
17

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
18

Blackwood, John Kenneth. "Expanded CTG trinucleotide repeats stimulate homologous recombination in Escherichia coli." Thesis, University of Edinburgh, 2006. http://hdl.handle.net/1842/14991.

Pełny tekst źródła
Streszczenie:
Expanded trinucleotide repeats (TNRs) (e.g. CAG, CTG, CCG) cause 40 different human diseases, however the molecular mechanism underlying the expansion of TNRs is poorly understood. This work describes the integration, in the chromosome of the bacterium <i>Escherichia coli</i> of differently sized CAG and CTG TNRs into the start of the <i>lacZ</i> gene and of a zeocin resistance recombination reporter substrate into the nearby gene<i>, cynX</i>.  We show that TNRs stimulate recombination at <i>cynX</i> in a length dependent manner. Furthermore, stimulation of recombination is dependent on TNR o
Style APA, Harvard, Vancouver, ISO itp.
19

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

Znajdź pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
20

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
21

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.

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
22

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

Znajdź pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
23

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
24

Dunlop, Thomas William. "The isolation and characterisation of mouse genes containing CAG/CTG trinucleotide repeats." Thesis, University of Glasgow, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363168.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
25

Soares, Miguel Filipe Tavares da Luz. "Trinucleotide repeat scanning in portuguese familial amyloidotic polyneuropathy kindreds exhibiting genetic anticipation." Master's thesis, Universidade do Porto. Reitoria, 1997. http://hdl.handle.net/10216/10329.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
26

Groh, Matthias. "The role of R-loops in the pathology of trinucleotide expansion diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:5a1e139a-8b17-45fd-a77b-a46fb79f190c.

Pełny tekst źródła
Streszczenie:
Friedreich ataxia and fragile X syndrome are among 40 human diseases associated with expansion of repeated DNA sequences. In both disorders repeat expansion leads to gene silencing, the molecular mechanism of which is not well understood. It was proposed that formation of unusual DNA structures such as R-loops over repeat regions may play a role, but their molecular function has not been investigated in vivo. R-loops are three-stranded structures, which occur when RNA hybridises to a complementary DNA strand. This leads to formation of an RNA/DNA hybrid and results in displacement of the other
Style APA, Harvard, Vancouver, ISO itp.
27

Soares, Miguel Filipe Tavares da Luz. "Trinucleotide repeat scanning in portuguese familial amyloidotic polyneuropathy kindreds exhibiting genetic anticipation." Dissertação, Universidade do Porto. Reitoria, 1997. http://hdl.handle.net/10216/10329.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
28

Auchincloss, Catherine Anne. "Investigations into mouse trinucleotide repeat arrays and their putative association with CpG islands." Thesis, University of Edinburgh, 2001. http://hdl.handle.net/1842/23129.

Pełny tekst źródła
Streszczenie:
A mouse CpG island library was screened for all 10 classes of trinucleotide repeat. Sequence analysis of 89 positive clones revealed that only 32% represented CpG islands, compared to 67% of randomly derived clones. These data implied that trinucleotide repeats are under represented in mouse CpG islands. Where possible PCR primers were designed to amplify these repeats from the mouse genome. The variability of 51 repeat arrays was assessed by their PCR amplification from a panel of sixteen mouse strains. Trinucleotide repeats that exhibited length variability between C57BL/6J and <i>Mus spretu
Style APA, Harvard, Vancouver, ISO itp.
29

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.

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
30

Davis, Brigid Michele 1967. "DMPK and myotonic dystrophy : effects of CTG trinucleotide expansion upon DMPK and their contribution to DM pathogenesis." Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49633.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
31

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.

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
32

Verkerk, Johanna Maria Henriëtta. "The molecular basis of the fragile X syndrome expansion of a trinucleotide repeat, a new mutational mechanism /." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1994. http://hdl.handle.net/1765/13739.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
33

Mikaeili, Hajar. "Investigating the role of FXN antisense transcript 1 in Friedreich ataxia." Thesis, Brunel University, 2017. http://bura.brunel.ac.uk/handle/2438/16496.

Pełny tekst źródła
Streszczenie:
Friedreich ataxia (FRDA) is a neurodegenerative disorder that is inherited in an autosomal recessive pattern. The most common FRDA mutation is hyperexpansion of a GAA triplet repeat sequence in the first intron of the affected gene, frataxin (FXN), resulting in decreased frataxin protein expression. The hyperexpanded GAA repeats can adopt unusual DNA structures and induce aberrant epigenetic changes leading to heterochromatin mediated gene silencing. Several epigenetic changes, including increased levels of DNA methylation, histone modifications, repressive chromatin formation and elevated lev
Style APA, Harvard, Vancouver, ISO itp.
34

Klesert, Todd Robert. "The DMAHP/SIX5 gene in myotonic dystrophy /." Thesis, Connect to this title online; UW restricted, 1999. http://hdl.handle.net/1773/6355.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
35

Williams, Aislinn Joanmarie. "Toxic intermediates and protein quality control in the polyglutamine disease, SCA3." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/624.

Pełny tekst źródła
Streszczenie:
Polyglutamine (polyQ) diseases are progressive fatal neurodegenerative movement disorders. Although many cellular processes are perturbed in polyQ disease, recent studies highlight the importance of protein misfolding as a central event in polyQ toxicity. Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a particularly interesting polyQ disease because of the special qualities of the disease protein ataxin-3, which normally participates in cellular protein quality control. Here I use multiple mouse models of disease to explore toxic protein species and the role of
Style APA, Harvard, Vancouver, ISO itp.
36

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

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
37

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.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
38

Gigonzac, Marc Alexandre Duarte. "Avanços tecnológicos e variabilidade genética da expansão CGG da região promotora do gene FMR1." Universidade Federal de Goiás, 2016. http://repositorio.bc.ufg.br/tede/handle/tede/6737.

Pełny tekst źródła
Streszczenie:
Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2017-01-13T10:53:51Z No. of bitstreams: 2 Tese - Marc Alexandre Duarte Gigonzac - 2016.pdf: 12763622 bytes, checksum: 3479eadda35402525c2387337a3a0d69 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)<br>Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-01-16T10:58:58Z (GMT) No. of bitstreams: 2 Tese - Marc Alexandre Duarte Gigonzac - 2016.pdf: 12763622 bytes, checksum: 3479eadda35402525c2387337a3a0d69 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)
Style APA, Harvard, Vancouver, ISO itp.
39

Morrone, Maria Francesca. "Analisi e confronto di sequenze di DNA mediante modelli Markoviani." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2015. http://amslaurea.unibo.it/9508/.

Pełny tekst źródła
Streszczenie:
Lo scopo di questa tesi è quello di evidenziare, attraverso varie analisi statistiche ed applicazione di modelli stocastici, il comportamento strutturale e funzionale dei dinucleotidi che compongono le sequenze di DNA di diversi organismi. Gli organismi che abbiamo scelto di prendere in considerazione sono l'uomo, il topo e l'Escherichia coli. Questa scelta non è stata casuale, ma oculata, al fine di mettere in risalto alcune differenze tra organismi eucarioti, quali l'uomo e il topo, ed organismi procarioti come il batterio E.coli. Nella prima parte del nostro studio, abbiamo computato le dis
Style APA, Harvard, Vancouver, ISO itp.
40

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.

Pełny tekst źródła
Streszczenie:
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
Style APA, Harvard, Vancouver, ISO itp.
41

Harris, Ginny Marie. "Toward understanding the role of protein context in the polyglutamine disease, SCA3." Diss., University of Iowa, 2011. https://ir.uiowa.edu/etd/978.

Pełny tekst źródła
Streszczenie:
The polyglutamine diseases are a clinically heterogeneous group of inherited neurodegenerative disorders caused by expansion of polyglutamine-encoding (CAG)n trinucleotide repeats within the disease genes. It is increasingly clear that the amino acid sequences flanking the polyglutamine expansion in each disease protein, i.e. the specific protein context, contribute to selective neuronal toxicity by influencing the behavior of the disease protein within selectively vulnerable neuronal populations. In the studies described here, I explore the role that protein context plays in the polyglutamine
Style APA, Harvard, Vancouver, ISO itp.
42

Brockhurst, Veronica. "Development of novel DNA-based methods for the measurement of length polymorphisms (microsatellites)." Thesis, Queensland University of Technology, 2001.

Znajdź pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
43

Ståhl, Patrik L. "Methods for Analyzing Genomes." Doctoral thesis, KTH, Genteknologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-12407.

Pełny tekst źródła
Streszczenie:
The human genome reference sequence has given us a two‐dimensional blueprint of our inherited code of life, but we need to employ modern‐day technology to expand our knowledge into a third dimension. Inter‐individual and intra‐individual variation has been shown to be larger than anticipated, and the mode of genetic regulation more complex. Therefore, the methods that were once used to explain our fundamental constitution are now used to decipher our differences. Over the past four years, throughput from DNA‐sequencing platforms has increased a thousand‐fold, bearing evidence of a rapid develo
Style APA, Harvard, Vancouver, ISO itp.
44

Simard, Olivier. "Étude de l'instabilité trinucléotidique lors de la spermiogenèse." Thèse, Université de Sherbrooke, 2017. http://hdl.handle.net/11143/10212.

Pełny tekst źródła
Streszczenie:
Les maladies à expansion de triplets nucléotidiques situés dans la région codante, telles que la maladie de Huntington, sont des maladies où les gènes en questions possèdent un nombre de répétitions trinucléotidiques anormalement élevé et inversement corrélé avec l'âge d‟apparition des symptômes. Plusieurs de ces maladies démontrent une anticipation paternelle, où un ajout de répétitions trinucléotidiques a lieu pendant la spermiogenèse, mais les étapes et les mécanismes impliqués sont encore mal compris. Or, la spermiogenèse est caractérisée par un remodelage drastique de la chromatine, où le
Style APA, Harvard, Vancouver, ISO itp.
45

Hille, Jan Matthias. "Die Trinukleotid-Expansion des Gens für zelluläre Glutathion-Peroxidase bei Patienten mit sporadischer amyotropher Lateralsklerose." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2003. http://dx.doi.org/10.18452/14952.

Pełny tekst źródła
Streszczenie:
Trotz intensiver Forschung ist die Ätiologie der sporadischen amyotrophen Lateralsklerose (sALS) weiterhin unbekannt. Zahlreiche Anzeichen deuten allerdings auf eine Mitbeteiligung von oxidativem Streß an der Pathogenese der sALS hin. So fand sich eine verminderte Aktivität der zellulären Glutathion-Peroxidase (GPX-1), eines als Radikalenfänger fungierenden Enzyms, in den Gyrus praecentrales bei sALS-Patienten. Zusätzliche Studien fanden eine Trinukleotid-Expansion des GGG-repeats im 1. Exon des für die GPX-1 kodierenden Gens. Da Trinukleotid-Expansionen bei einer Vielzahl von neurodegenerati
Style APA, Harvard, Vancouver, ISO itp.
46

Goodman, Caitlin Elizabeth. "A Novel Method to Analyze DNA Breaks and Repair in Human Cells." Wright State University / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=wright1525086265360859.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
47

Mosbach, Valentine. "Contraction de répétitions de trinucléotides par induction ciblée d'une cassure double brin." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066040.

Pełny tekst źródła
Streszczenie:
Les répétitions de trinucléotides sont des séquences répétées en tandem pouvant subir, chez l'homme, de larges expansions à l'origine de nombreuses maladies génétiques. La dystrophie myotonique de type 1 (DM1) est due à l'expansion d'une répétition CTG en 3'UTR du gène DMPK. Les mécanismes d'instabilités des répétitions, peu connus, reposeraient sur leur capacité à former des structures secondaires constituant un obstacle aux mécanismes impliquant une synthèse d'ADN. Nous avons montré qu'une TALEN induisant une cassure double brin dans les répétitions CTG à l'origine de la DM1 insérées chez la
Style APA, Harvard, Vancouver, ISO itp.
48

Pettersson, Erik. "Interrogation of Nucleic Acids by Parallel Threading." Doctoral thesis, Stockholm : Bioteknologi, Alba Nova, Kungliga Tekniska högskolan, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-4546.

Pełny tekst źródła
Style APA, Harvard, Vancouver, ISO itp.
49

Mosbach, Valentine. "Contraction de répétitions de trinucléotides par induction ciblée d'une cassure double brin." Electronic Thesis or Diss., Paris 6, 2017. http://www.theses.fr/2017PA066040.

Pełny tekst źródła
Streszczenie:
Les répétitions de trinucléotides sont des séquences répétées en tandem pouvant subir, chez l'homme, de larges expansions à l'origine de nombreuses maladies génétiques. La dystrophie myotonique de type 1 (DM1) est due à l'expansion d'une répétition CTG en 3'UTR du gène DMPK. Les mécanismes d'instabilités des répétitions, peu connus, reposeraient sur leur capacité à former des structures secondaires constituant un obstacle aux mécanismes impliquant une synthèse d'ADN. Nous avons montré qu'une TALEN induisant une cassure double brin dans les répétitions CTG à l'origine de la DM1 insérées chez la
Style APA, Harvard, Vancouver, ISO itp.
50

Stevanoni, Martina. "The fine modulation of mammalian DNA replication in response to endogenous and exogenous stress conditions." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3424576.

Pełny tekst źródła
Streszczenie:
DNA replication is essential to allow faithful inheritance of the genome. In mammalian cells, many replication origins are grouped within 200-400 kb regions called replication clusters, which are in turn enclosed in large replication domains (Méchali 2010; Cayrou et al. 2011). This hierarchical organisation is required for the temporal and spatial control of DNA replication and it allows modulating origin activation locally within clusters and globally at the level of replication domains (Yekezare et al. 2013). During G1 several initiation sites are licensed, but only a subset is activated i
Style APA, Harvard, Vancouver, ISO itp.
Możesz być także zainteresowany bibliografiami na temat „Trinucleotides” dla innych typów źródeł:
Artykuły w czasopismach Książki
Oferujemy zniżki na wszystkie plany premium dla autorów, których prace zostały uwzględnione w tematycznych zestawieniach literatury. Skontaktuj się z nami, aby uzyskać unikalny kod promocyjny!

Do bibliografii