Log in

Relevant bibliographies by topics / Nonsense mutation / Dissertations / Theses

To see the other types of publications on this topic, follow the link: Nonsense mutation.

Dissertations / Theses on the topic 'Nonsense mutation'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 March 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 24 dissertations / theses for your research on the topic 'Nonsense mutation.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

Jia, Jieshuang. "Study of molecules with nonsense mutation correction capacity." Thesis, Lille 2, 2015. http://www.theses.fr/2015LIL2S009/document.

Full text

Abstract:

Les mutations non-sens représentent environ 10% des mutations trouvées dans les maladiesgénétiques héréditaires. Les ARNm portant une mutation non-sens sont dégradés par un mécanismeappelé nonsense-mediated mRNA decay (NMD) pour empêcher la synthèse de protéines tronquéesqui pourraient être toxiques ou non-fonctionnelles pour la cellule. Plusieurs stratégies ont étédéveloppées pour sauver une mutation non-sens. Dans notre laboratoire, nous étudions deux d'entreelles qui sont (i) l'inhibition du NMD et (ii) l'activation de la translecture du PTC qui est un mécanismeconduisant à l'incorporation

APA, Harvard, Vancouver, ISO, and other styles

2

McHugh, Daniel R. "PHARMACOLOGICAL CORRECTION OF CYSTIC FIBROSIS MANIFESTATIONS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1554738017086895.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Almasoudi, Kholoud S. "The fate of nonsense-mediated RNA decay factors and their substrates during neuronal differentiation." Thesis, University of Aberdeen, 2018. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=238313.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Zhang, Shu. "A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB119/document.

Full text

Abstract:

L'objectif principal de chaque forme de vie à transmettent fidèlement aux descendants ainsi que les renseignements génétiques auto - survie. Agents endogènes et environnementales en attaque ce processus. Pour résister à ces menaces et protéger le génome intégré, les cellules ont développé des systèmes permettant de détecter leur présence et l'adn de signalisation des dommages - intérêts, la médiation leur réparation. Notre étude porte sur un patient nés de parents consanguins présentant une insuffisance médullaire précoce, les anomalies de développement (microcéphalie et longueur des télomères

APA, Harvard, Vancouver, ISO, and other styles

5

Doi, Takahiro. "A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome." Kyoto University, 2011. http://hdl.handle.net/2433/147346.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Harmel, Eva-Maria Sophia. "Klinisches Erscheinungsbild und funktionelle Charakterisierung eines Patienten mit einer heterozygoten Exon 6 Deletion im IGF1R." Doctoral thesis, Universitätsbibliothek Leipzig, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-163923.

Full text

Abstract:

Hintergrund: Der Insulin-like growth factor receptor (IGF1R) spielt eine zentrale Rolle bei Wachstumsprozessen. Heterozygote IGF1R-Mutationen führen durch eine partielle IGF1-Resistenz zu Kleinwuchs. Methoden: Auxologische und endokrinologische Daten des Patienten wurden erhoben. Anhand von Fibroblasten wurde die IGF1R-Deletion charakterisiert und die Auswirkungen auf die mRNA- und Protein-Expression sowie die Signaltransduktion untersucht. Ergebnisse: Der Junge, der eine heterozygote Exon 6 Deletion im IGF1R – durch Alu-Rekombination verursacht – und eine heterozygote SHOX-Variante (p.Met24

APA, Harvard, Vancouver, ISO, and other styles

7

Almeida, Luiz Gustavo Dufner de. "Estudo mutacional em pacientes com o complexo da esclerose tuberosa." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-09122014-085619/.

Full text

Abstract:

O complexo da esclerose tuberosa (TSC) é um transtorno genético, sistêmico, com expressividade variável e herança autossômica dominante. Clinicamente manifesta-se devido ao desenvolvimento de hamartomas e hamártias em diferentes tecidos, principalmente no cérebro, rins, coração, pele e pulmões, podendo causar disfunção do órgão. Mutação em um de dois genes supressores tumorais, TSC1 ou TSC2, são responsáveis pelo TSC. Os genes TSC1 e TSC2 codificam para hamartina e tuberina, respectivamente. Ambas as proteínas interagem fisicamente formando um complexo citosólico que inibe mTOR (mammalian targ

APA, Harvard, Vancouver, ISO, and other styles

8

Ittig, Boo Isabel. "PK Aarau : first homozygous nonsense mutation causing pyruvate kinase deficiency = Hereditäre Enzymdefekte der Erythrozyten : Glukose-6-Phosphatedehydrogenase-Mangel und Pyruvatkinase-Mangel /." Bern : [s.n.], 2006. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

Full text

Abstract:

Diss. Univ. Bern, 2006.<br>Ein Artikel in engl. Sprache, ein Artikel in dt. Sprache. Sonderdruck aus: British Journal of Haematology, Vol. 127, S. 364-366 (2004). Sonderdruck aus: Therapeutische Umschau, Bd. 63, H. 1, S. 47-56 (2006).

APA, Harvard, Vancouver, ISO, and other styles

9

Wanamaker, Eileen B. "Mechanisms of Fluconazole Resistance in Candida parapsilosis Clinical Isolates." University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367934848.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Bugaud, Olivier. "Suppression traductionnelle des codons stop chez les mammifères." Thesis, Université Paris-Saclay (ComUE), 2016. http://www.theses.fr/2016SACLS222.

Full text

Abstract:

Entre 10% et 30% des maladies humaines sont liées à l'apparition d'une mutation non-sens (PTC). La synthèse protéique est alors arrêté prématurément. Cet arrêt peut être inhibé par des molécules inductrices de translecture qui permettent l’incorporation d’un ARNt suppresseur naturel au niveau du PTC (translecture). Le ribosome peut alors franchir le PTC et restaurer l’expression de la protéine.Au cours de ma thèse, je me suis intéressé à la suppression des codons stop en caractérisant de nouvelles molécules inductrices de translecture et en analysant les mécanismes de la fidélité de la traduct

APA, Harvard, Vancouver, ISO, and other styles

11

Chen, Biao. "Association of a nonsense mutation at the codon for Glu 54 in the GM2A gene with AB variant G¦M¦2 gangliosidosis, characterizing the intron/exon junctions of the gene." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0001/MQ46040.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

Okutman, Özlem. "Genetics of male infertility : genes implicated in non-obstructive azoospermia and severe oligozoospermia." Thesis, Strasbourg, 2015. http://www.theses.fr/2015STRAJ049/document.

Full text

Abstract:

Parmi les couples avec un projet parental, le facteur masculin d’infertilité est responsable d’environ 20%. Malgré de longues années d’activités d’assistance médicale à la procréation, un nombre important de cas reste idiopathiques. Considérant le nombre élevé des gènes potentiellement impliqués dans la gamétogenèse, il est fort probable que la majorité des formes ‘idiopathiques’ sont d’origine génétique. Dans l'étude présente, nous avons d’identifier deux nouveaux gènes impliqués dans une infertilité masculine. Nos données suggèrent que la mutation dans TEX15 puisse corréler avec une diminuti

APA, Harvard, Vancouver, ISO, and other styles

13

Damé, Maria Cecília Florisbal. "Doenças hereditárias e defeitos congênitos em búfalos (Bubalus bubalis) no Brasil." Universidade Federal de Pelotas, 2013. http://repositorio.ufpel.edu.br/handle/ri/2513.

Full text

Abstract:

Made available in DSpace on 2014-08-20T14:37:54Z (GMT). No. of bitstreams: 1 tese_maria_cecilia_florisbal_dame.pdf: 53923 bytes, checksum: e82c085a8b324064158221bf46a754ba (MD5) Previous issue date: 2013-12-12<br>This thesis is a continuation of a research project started with a diagnosis of dermatosis mechano-bullosa in a herd of buffaloes from a farm in southern Rio Grande do Sul. After this diagnostic it was created an experimental herd where several congenital defects and / or hereditary disorders have been diagnosed during more than two decades. These diseases were studied by a resear

APA, Harvard, Vancouver, ISO, and other styles

14

Benhabiles, Hana. "Etude de la correction de mutations non sens par de nouvelles molécules pouvant servir d'approches thérapeutiques ciblées." Thesis, Lille 2, 2017. http://www.theses.fr/2017LIL2S046.

Full text

Abstract:

Les mutations non sens introduisent un codon stop prématuré dans une phase ouverte de lecture. Ce type de mutation est retrouvé chez environ 11% des patients atteints de maladies génétiques et dans de nombreux cancers. En effet, entre 5 et 40% des mutations affectant des gènes suppresseurs de tumeurs sont des mutations non sens. La conséquence de la présence d’une mutation non sens dans un gène est la dégradation rapide de l’ARN messager correspondant, par l’activation d’un mécanisme de surveillance des ARN appelé NMD (pour nonsense-mediated mRNA decay) conduisant à une absence d’expression du

APA, Harvard, Vancouver, ISO, and other styles

15

Kamelgarn, Marisa Elizabeth. "MUTATIONS OF FUS CAUSE AGGREGATION OF RNA BINDING PROTEINS, DISRUPTIONS IN PROTEIN SYNTHESIS, AND DYSREGULATION OF NONSENSE MEDIATED DECAY." UKnowledge, 2019. https://uknowledge.uky.edu/toxicology_etds/27.

Full text

Abstract:

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by motor neuron death and subsequent muscle atrophy. Approximately 15% of ALS cases are inheritable, and mutations in the Fused in Sarcoma (FUS) gene contribute to approximately 5% of these cases, as well as about 2% of sporadic cases. FUS performs a diverse set of cellular functions, including being a major regulator of RNA metabolism. FUS undergoes liquid- liquid phase transition in vitro, allowing for its participation in stress granules and RNA transport granules. Phase transition also contributes to the

APA, Harvard, Vancouver, ISO, and other styles

16

Dias, Patrícia Sofia Martins. "Establishment of a suppression therapy for beta-thalassemia due to a nonsense mutation." Master's thesis, 2017. http://hdl.handle.net/10451/31666.

Full text

Abstract:

Tese de mestrado em Bioquímica, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2017<br>A célula necessita de manter os níveis de proteína regulados, uma vez que estas possuem funções que determinam a sobrevivência e adaptação da célula em resposta a diferentes estímulos. De forma a regular estes níveis a célula altera os padrões de expressão génica, controlando vários processos celulares, nomeadamente, a transcrição e a tradução. Uma desregulação nestes processos pode levar a inúmeras doenças, como as doenças genéticas. A β-talassemia é um exemplo de uma doença genétic

APA, Harvard, Vancouver, ISO, and other styles

17

Harmel, Eva-Maria Sophia. "Klinisches Erscheinungsbild und funktionelle Charakterisierung eines Patienten mit einer heterozygoten Exon 6 Deletion im IGF1R." Doctoral thesis, 2014. https://ul.qucosa.de/id/qucosa%3A13242.

Full text

Abstract:

Hintergrund: Der Insulin-like growth factor receptor (IGF1R) spielt eine zentrale Rolle bei Wachstumsprozessen. Heterozygote IGF1R-Mutationen führen durch eine partielle IGF1-Resistenz zu Kleinwuchs. Methoden: Auxologische und endokrinologische Daten des Patienten wurden erhoben. Anhand von Fibroblasten wurde die IGF1R-Deletion charakterisiert und die Auswirkungen auf die mRNA- und Protein-Expression sowie die Signaltransduktion untersucht. Ergebnisse: Der Junge, der eine heterozygote Exon 6 Deletion im IGF1R – durch Alu-Rekombination verursacht – und eine heterozygote SHOX-Variante (p.Met24

APA, Harvard, Vancouver, ISO, and other styles

18

Wegener, Jan Eike. "Charakterisierung und experimentelle Therapien eines neuen Mausmodells für das Rett Syndrom." Doctoral thesis, 2015. http://hdl.handle.net/11858/00-1735-0000-0028-8636-4.

Full text

Abstract:

Für das Rett Syndrom, eine der häufigsten genetischen Ursachen für mentale Retardie-rung bei Frauen, gibt es bisher keine kausale Therapie, obwohl gentherapeutische Studi-en mit konditionellen knockout Mäusen gezeigt haben, dass es sich um eine therapierbare Erkrankung handelt. Um neue Therapien entwickeln zu können, werden Mausmodelle benötigt, die auf den beim Menschen am häufigsten gefundenen Mutation beruhen. In der vorliegenden Arbeit wurde ein Mausmodell mit der häufigsten humanen Nonsense-Mutation R168X im Mecp2 Gen charakterisiert. Mit Hilfe dieses Mausmodells wurden dann die Therapiea

APA, Harvard, Vancouver, ISO, and other styles

19

Popescu, Andreea. "Pharmacological Rescue of Nonsense Mutations in Rett Syndrome." Thesis, 2009. http://hdl.handle.net/1807/18985.

Full text

Abstract:

Rett syndrome is a neurological condition that affects primarily girls. Approximately 40% of Rett syndrome cases arise from nonsense mutations. Several studies have shown that certain aminoglycosides can suppress some types of nonsense mutations in a context dependent manner, and allow the generation of a full length protein. It remains mostly unclear whether different nonsense mutations of MECP2 will be responsive to aminoglycoside treatment. In this study I tested whether some nonsense mutations of MECP2 seen clinically in Rett syndrome girls can be partially suppressed by aminoglycoside adm

APA, Harvard, Vancouver, ISO, and other styles

20

Amorim, João Pedro Pacheco Conde de. "Characterization of CFTR nonsense mutations using novel CFTR minigenes." Master's thesis, 2013. http://hdl.handle.net/10451/10362.

Full text

Abstract:

Tese de mestrado em Bioquímica, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2013<br>A Fibrose Quística (FQ) é a doença recessiva autossómica letal mais comum na população caucasiana e apresenta, na Europa, uma taxa de incidência de 1 em 3500 recém nascidos, enquanto que em Portugal, 1 em cada 6000 novos nados-vivos apresenta a doença. A doença é causada por mutações no gene CFTR (do inglês Cystic Fibrosis Transmembrane Conductance Regulator) que levam à formação de uma pro-teína (com o mesmo nome) com função anormal ou reduzida ou até à completa inibição da expressã

APA, Harvard, Vancouver, ISO, and other styles

21

Brito, Francesca Manuela Johnson de Sousa 1989. "Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases." Master's thesis, 2014. http://hdl.handle.net/10451/15328.

Full text

Abstract:

Tese de mestrado. Biologia (Biologia Humana e Ambiente). Universidade de Lisboa, Faculdade de Ciências, 2014<br>Premature termination codons (PTCs or nonsense codons) can arise from various types of mutations in germ or somatic cells. PTCs promote premature translational termination and the induction of nonsense-mediated mRNA decay (NMD). NMD is a surveillance system that prevents the synthesis of C-terminally truncated proteins toxic for the cell. The physiological importance of NMD is manifested by the fact that about one third of genetic disease-associated mutations generate PTCs. In recent

APA, Harvard, Vancouver, ISO, and other styles

22

Lai, Ming Wei, and 賴明瑋. "Nonsense mutations in hepatitis B virus S gene in patients with hepatocellular carcinoma." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/73733650985223906363.

Full text

Abstract:

博士<br>長庚大學<br>臨床醫學研究所<br>97<br>Chronic hepatitis B infection is the most important risk factor of hepatocellular carcinoma, but the oncogenic mechanisms are still not fully understood. Antiviral nucleoside or nucleotide analogues are promising strategy to decrease or eliminate viral loads, aiming to avoid dreadful consequences of cirrhosis and hepatocellular carcinoma. Lamivudine is the first potent antiviral extensively used in patients with chronic hepatitis B virus infection. In cirrhotic patients, long-term lamivudine therapy significantly reduced the risk of hepatocellular carcinoma. Howe

APA, Harvard, Vancouver, ISO, and other styles

23

Pacho, Frederic [Verfasser]. "Novel determinants of spontaneous readthrough of nonsense mutations = Beschreibung neuer Faktoren mit Einfluss auf das spontane Überlesen von Stopcodon-Mutationen / vorgelegt von Frederic Pacho." 2010. http://d-nb.info/1006940413/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Chen, Yen-Ning, and 陳妍寧. "Development of flucytosine resistance in Candida tropicalis is caused by nonsense mutations in FCY2, followed by loss of heterozygosity." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/05714440604607717182.

Full text

Abstract:

碩士<br>國立交通大學<br>分子醫學與生物工程研究所<br>98<br>Candida tropicalis, a diploid yeast, has been regarded as one of the most invasive and prevalent species of non-albicans Candida. Previous work has shown that 31.25% (30/96) of flucytosine (5FC) susceptible clinical isolates could generate drug resistant progeny. It has revealed that there was an association between a set of polymorphic nucleotides in FCY2 (encoding a cytosine transporter) and the observed drug resistant phenotype. In this study, the molecular mechanisms of 5FC resistance in these C. tropicalis have been further investigated. First of all,

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!