Auswahl der wissenschaftlichen Literatur zum Thema „Repeat instabilty“
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Zeitschriftenartikel zum Thema "Repeat instabilty"
Khristich, Alexandra N., und Sergei M. Mirkin. „On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability“. Journal of Biological Chemistry 295, Nr. 13 (14.02.2020): 4134–70. http://dx.doi.org/10.1074/jbc.rev119.007678.
Der volle Inhalt der QuelleLin, Yunfu, und John H. Wilson. „Transcription-Induced CAG Repeat Contraction in Human Cells Is Mediated in Part by Transcription-Coupled Nucleotide Excision Repair“. Molecular and Cellular Biology 27, Nr. 17 (25.06.2007): 6209–17. http://dx.doi.org/10.1128/mcb.00739-07.
Der volle Inhalt der QuelleCohen, Haim, Dorothy D. Sears, Drora Zenvirth, Philip Hieter und Giora Simchen. „Increased Instability of Human CTG Repeat Tracts on Yeast Artificial Chromosomes during Gametogenesis“. Molecular and Cellular Biology 19, Nr. 6 (01.06.1999): 4153–58. http://dx.doi.org/10.1128/mcb.19.6.4153.
Der volle Inhalt der QuelleBrouwer, Judith Rixt, Aline Huguet, Annie Nicole, Arnold Munnich und Geneviève Gourdon. „Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus“. Journal of Nucleic Acids 2013 (2013): 1–16. http://dx.doi.org/10.1155/2013/567435.
Der volle Inhalt der QuelleGold, Michaela A., Jenna M. Whalen, Karine Freon, Zixin Hong, Ismail Iraqui, Sarah A. E. Lambert und Catherine H. Freudenreich. „Restarted replication forks are error-prone and cause CAG repeat expansions and contractions“. PLOS Genetics 17, Nr. 10 (21.10.2021): e1009863. http://dx.doi.org/10.1371/journal.pgen.1009863.
Der volle Inhalt der QuelleNeil, Alexander J., Julia A. Hisey, Ishtiaque Quasem, Ryan J. McGinty, Marcin Hitczenko, Alexandra N. Khristich und Sergei M. Mirkin. „Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging“. Proceedings of the National Academy of Sciences 118, Nr. 5 (25.01.2021): e2013080118. http://dx.doi.org/10.1073/pnas.2013080118.
Der volle Inhalt der QuelleCalluori, Stephanie, Rebecca Stark und Brandon L. Pearson. „Gene–Environment Interactions in Repeat Expansion Diseases: Mechanisms of Environmentally Induced Repeat Instability“. Biomedicines 11, Nr. 2 (10.02.2023): 515. http://dx.doi.org/10.3390/biomedicines11020515.
Der volle Inhalt der QuelleGorbunova, Vera, Andrei Seluanov, Vincent Dion, Zoltan Sandor, James L. Meservy und John H. Wilson. „Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells“. Molecular and Cellular Biology 23, Nr. 13 (01.07.2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.
Der volle Inhalt der QuelleJung, Da Eun, und Chul Hyoung Lyoo. „A Spinocerebellar Ataxia Type 6 Patient Caused by <i>De Novo</i> Expansion of Normal Range CAG Repeats“. Journal of the Korean Neurological Association 42, Nr. 2 (01.05.2024): 150–52. http://dx.doi.org/10.17340/jkna.2023.0105.
Der volle Inhalt der QuelleSu, Xiaofeng A., und Catherine H. Freudenreich. „Cytosine deamination and base excision repair cause R-loop–induced CAG repeat fragility and instability in Saccharomyces cerevisiae“. Proceedings of the National Academy of Sciences 114, Nr. 40 (18.09.2017): E8392—E8401. http://dx.doi.org/10.1073/pnas.1711283114.
Der volle Inhalt der QuelleDissertationen zum Thema "Repeat instabilty"
De, Pontual Laure. „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.
Der volle Inhalt der QuelleMyotonic dystrophy type 1 (DM1) is the most common dystrophy in adults, with an estimated prevalence of 1:8000 individuals. It is a multisystemic disease characterized by muscle, cardiac, cognitive, and digestive impairments, which contribute to a reduction in both life expectancy and quality of life for patients. DM1 is caused by an abnormal expansion of CTG repeats in the 3'UTR of the DMPK gene. In the general population, the number of repeats is under 35 CTG, whereas in patients, it exceeds 50 CTG and can reach several thousand repeats. As in other diseases caused by repeat expansions, the CTG expansion in DM1 is unstable. The repeat size increases across generations (intergenerational instability) and within tissues during a patient's lifetime (somatic instability). The number of inherited repeats and the level of somatic instability correlate with the age of onset and severity of symptoms. Thus, targeting the mutation itself to stabilize or reduce CTG repeat length is the most promising therapeutic strategy, as it would address all the pathophysiological mechanisms resulting from the mutation.Initially, my thesis work focused on identifying repositioned chemical molecules capable of modulating repeat instability. Screening the 1280 molecules from the Prestwick Chemical Library allowed me to identify 39 candidate molecules that alter the expression of a reporter gene, suggesting they could modulate repeat instability. After directly studying their effect on instability, I excluded four of these molecules that do not modulate repeat expression. I demonstrated that a fifth molecule, clomipramine, can modulate repeat instability in the screening cell model but not in murine and human DM1 fibroblasts.Concurrently, I showed that RGFP966, a selective HDAC3 inhibitor, induced contractions of CTG repeats in murine DM1 fibroblasts with approximately 650 repeats. This effect appears to depend on the dose of RGFP966 or the size of the CTG repeat, as it was not replicated in human DM1 fibroblasts with 350 CTG repeats. An RNA-seq approach in murine cells treated with RGFP966 identified several candidate genes involved in DNA replication as possible modifiers of instability. I also showed a decrease in bidirectional DMPK transcription associated with a probable hypermethylation downstream of the repeats in murine DM1 cells. In conclusion, my data suggest that RGFP966 modulates CTG repeat instability in DM1 through multiple mechanisms, potentially including chromatin structure modification at the DM1 locus and alterations in DNA replication.Overall, my thesis project contributed to the understanding of repeat instability mechanisms and the identification of chemical compounds that modulate instability dynamics. My work also highlighted the limitations of each model used and the complexity of identifying small molecules that alter CTG triplet dynamics in reporter cell models. Additionally, I participated in developing long-read sequencing (with and without amplification) for DM1, providing a rapid and highly informative new tool for the analysis of somatic mosaicism
Gadgil, Rujuta Yashodhan. „Instability at Trinucleotide Repeat DNAs“. Wright State University / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=wright1472231204.
Der volle Inhalt der QuelleUbink-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.
Der volle Inhalt der QuelleBeaver, 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.
Der volle Inhalt der QuelleUeki, Junko. „Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability“. Kyoto University, 2018. http://hdl.handle.net/2433/230991.
Der volle Inhalt der QuelleSchmidt, Kristina H. „CTG trinucleotide repeat instability in Escherichia coli“. Thesis, University of Edinburgh, 1999. http://hdl.handle.net/1842/14353.
Der volle Inhalt der QuelleZahra, Rabaab. „CAG.CTG trinucleotide repeat instability in the E.coli chromosome“. Thesis, University of Edinburgh, 2006. http://hdl.handle.net/1842/11667.
Der volle Inhalt der QuelleChan, Kara Y. „MECHANISMS OF TRINUCLEOTIDE REPEAT INSTABILITY DURING DNA SYNTHESIS“. UKnowledge, 2019. https://uknowledge.uky.edu/toxicology_etds/29.
Der volle Inhalt der QuellePickett, Hilda A. „Molecular characterisation of instability in human telomere repeat arrays“. Thesis, University of Leicester, 2002. http://hdl.handle.net/2381/30343.
Der volle Inhalt der QuelleChan, Nelson Lap Shun. „IDENTIFICATION OF ACTIVITIES INVOLVED IN CAG/CTG REPEAT INSTABILITY“. UKnowledge, 2011. http://uknowledge.uky.edu/gradschool_diss/832.
Der volle Inhalt der QuelleBücher zum Thema "Repeat instabilty"
1946-, Oostra Ben A., Hrsg. Trinucleotide diseases and instability. Berlin: Springer, 1998.
Den vollen Inhalt der Quelle findenHughes, Alis, und Lesley Jones. Pathogenic Mechanisms. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0013.
Der volle Inhalt der QuelleZeitlin, Vladimir. Rotating Shallow-Water model with Horizontal Density and/or Temperature Gradients. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198804338.003.0014.
Der volle Inhalt der QuelleMacartney, Huw. The Bank Culture Debate. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780198843764.001.0001.
Der volle Inhalt der QuelleThe Global State of Democracy 2022: Forging Social Contracts in a Time of Discontent. International Institute for Democracy and Electoral Assistance (International IDEA), 2022. http://dx.doi.org/10.31752/idea.2022.56.
Der volle Inhalt der QuelleHanning, Robert W. Boccaccio, Chaucer, and Stories for an Uncertain World. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780192894755.001.0001.
Der volle Inhalt der QuelleBuchteile zum Thema "Repeat instabilty"
Wells, Robert D., Albino Bacolla und Richard P. Bowater. „Instabilities of Triplet Repeats: Factors and Mechanisms“. In Trinucleotide Diseases and Instability, 133–65. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-540-69680-3_4.
Der volle Inhalt der QuelleParniewski, Pawel, und Pawel Staczek. „Molecular Mechanisms of TRS Instability“. In Triple Repeat Diseases of the Nervous Systems, 1–25. Boston, MA: Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6_1.
Der volle Inhalt der QuelleCurtis, J. Willard. „Churning: Repeated Optimization and Cooperative Instability“. In Cooperative Systems, 105–16. Boston, MA: Springer US, 2004. http://dx.doi.org/10.1007/978-1-4613-0219-3_6.
Der volle Inhalt der QuelleSalina, E. A., E. G. Pestsova und N. P. Goncharov. „Instability of Subtelomeric Spelt1 Repeats of Wheat Species“. In Stadler Genetics Symposia Series, 235–36. Boston, MA: Springer US, 2000. http://dx.doi.org/10.1007/978-1-4615-4235-3_23.
Der volle Inhalt der QuellePolleys, Erica J., und Catherine H. Freudenreich. „Methods to Study Repeat Fragility and Instability in Saccharomyces cerevisiae“. In Methods in Molecular Biology, 403–19. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-7306-4_28.
Der volle Inhalt der QuelleWalker, Catherine A., und Catherine M. Abbott. „Trinucleotide Repeat Instability as a Cause of Human Genetic Disease“. In Encyclopedia of Genetics, 396–400. New York: Routledge, 2014. http://dx.doi.org/10.4324/9781315073972-55.
Der volle Inhalt der QuelleMowbray, Miranda. „Observable Instability for the Repeated Prisoner’s Dilemma“. In Approximation, Optimization and Mathematical Economics, 223–34. Heidelberg: Physica-Verlag HD, 2001. http://dx.doi.org/10.1007/978-3-642-57592-1_20.
Der volle Inhalt der QuelleDeka, Ranjan, und Ranajit Chakraborty. „Trinucleotide Repeats, Genetic Instability and Variation in the Human Genome“. In Genomic Diversity, 53–64. Boston, MA: Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4263-6_4.
Der volle Inhalt der QuelleLai, Yanhao, Ruipeng Lei, Yaou Ren und Yuan Liu. „Methods to Study Trinucleotide Repeat Instability Induced by DNA Damage and Repair“. In Methods in Molecular Biology, 87–101. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9500-4_5.
Der volle Inhalt der QuelleKobayashi, Takehiko. „Genome Instability of Repetitive Sequence: Lesson from the Ribosomal RNA Gene Repeat“. In DNA Replication, Recombination, and Repair, 235–47. Tokyo: Springer Japan, 2016. http://dx.doi.org/10.1007/978-4-431-55873-6_10.
Der volle Inhalt der QuelleKonferenzberichte zum Thema "Repeat instabilty"
Akatsuka, T., H. Imai, K. Arai, H. Sakuma, A. Ishizawa, T. Goh, T. Hashimoto et al. „Highly stable laser repeater system with frequency instability below 10-21“. In Conference on Lasers and Electro-Optics/Pacific Rim. Washington, D.C.: Optica Publishing Group, 2022. http://dx.doi.org/10.1364/cleopr.2022.cfa6g_02.
Der volle Inhalt der QuelleGrasser, Tibor. „Towards Understanding Negative Bias Temperature Instability“. In 2008 IEEE International Integrated Reliability Workshop Final Report (IRW). IEEE, 2008. http://dx.doi.org/10.1109/irws.2008.4796147.
Der volle Inhalt der QuelleGrasser, Tibor. „Towards Understanding Negative Bias Temperature Instability“. In 2008 IEEE International Integrated Reliability Workshop Final Report (IRW). IEEE, 2008. http://dx.doi.org/10.1109/irws.2008.4796110.
Der volle Inhalt der QuelleHensman Moss, Davina, Anupriya Dalmia, Valentina Galassi Deforie, Kristina Ibanez, Sarah J. Tabrizi, Nayana Lahiri, Henry Houlden, Peter Holmans, Lesley Jones und Arianna Tucci. „C12 HTT repeat instability in family trios in the 100,000 genomes project“. In EHDN 2022 Plenary Meeting, Bologna, Italy, Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jnnp-2022-ehdn.56.
Der volle Inhalt der QuelleZafar, Sufi. „The Negative Bias Temperature Instability in MOS Devices“. In 2006 IEEE International Integrated Reliability Workshop Final Report. IEEE, 2006. http://dx.doi.org/10.1109/irws.2006.305255.
Der volle Inhalt der QuelleHongyu Zhao, Yue Zhao, Rong Chai und Lu Cai. „Instability of the DNA repeats mutation in humans hereditary disorders“. In 2011 International Conference on Remote Sensing, Environment and Transportation Engineering (RSETE). IEEE, 2011. http://dx.doi.org/10.1109/rsete.2011.5965950.
Der volle Inhalt der QuelleLelis, A. J., R. Green, D. Habersat und N. Goldsman. „Effect of Threshold-Voltage Instability on SiC DMOSFET Reliability“. In 2008 IEEE International Integrated Reliability Workshop Final Report (IRW). IEEE, 2008. http://dx.doi.org/10.1109/irws.2008.4796090.
Der volle Inhalt der QuelleLelis, Aivars, D. Habersat, R. Green und N. Goldsman. „Effect of Threshold-Voltage Instability on SiC DMOSFET Reliability“. In 2008 IEEE International Integrated Reliability Workshop Final Report (IRW). IEEE, 2008. http://dx.doi.org/10.1109/irws.2008.4796136.
Der volle Inhalt der QuelleLelis, A. J., S. Potbhare, D. Habersat, G. Pennington und N. Goldsman. „Modeling and Characterization of Bias Stress-Induced Instability of SiC MOSFETs“. In 2006 IEEE International Integrated Reliability Workshop Final Report. IEEE, 2006. http://dx.doi.org/10.1109/irws.2006.305235.
Der volle Inhalt der QuelleGrasser, Tibor, Paul-Jurgen Wagner, Philipp Hehenberger, Wolfgang Gos und Ben Kaczer. „A rigorous study of measurement techniques for negative bias temperature instability“. In 2007 IEEE International Integrated Reliability Workshop Final Report. IEEE, 2007. http://dx.doi.org/10.1109/irws.2007.4469212.
Der volle Inhalt der QuelleBerichte der Organisationen zum Thema "Repeat instabilty"
Brunner, Huschenbett und Beshouri. PR-336-06206-R01 Engine Control for Legacy Engines - Cylinder and Cycle Level Control. Chantilly, Virginia: Pipeline Research Council International, Inc. (PRCI), Mai 2014. http://dx.doi.org/10.55274/r0010041.
Der volle Inhalt der QuelleChao, Alex. Very Large Hadron Collider Instability Workshop Summary Report. Office of Scientific and Technical Information (OSTI), April 2001. http://dx.doi.org/10.2172/784899.
Der volle Inhalt der QuelleLahey, R. T. Jr. Analysis of nuclear reactor instability phenomena. Progress report. Office of Scientific and Technical Information (OSTI), März 1993. http://dx.doi.org/10.2172/10131526.
Der volle Inhalt der QuelleAluie, Hussein. Final Technical Report: Ablative Magnetohydrodynamic Rayleigh-Taylor Instability. Office of Scientific and Technical Information (OSTI), März 2023. http://dx.doi.org/10.2172/2311793.
Der volle Inhalt der QuelleIsmail, Zenobia. Interaction Between Food Prices and Political Instability. Institute of Development Studies (IDS), Mai 2021. http://dx.doi.org/10.19088/k4d.2021.091.
Der volle Inhalt der QuelleDynan, William S. Final Technical Report - Mechanisms and pathways controlling genomic instability. Office of Scientific and Technical Information (OSTI), Mai 2013. http://dx.doi.org/10.2172/1081424.
Der volle Inhalt der QuelleDynan, William S. Final report- Links between persistent DNA damage, genome instability, and aging. Office of Scientific and Technical Information (OSTI), November 2016. http://dx.doi.org/10.2172/1333814.
Der volle Inhalt der QuelleMajda, Andrew J. Report: Low Frequency Predictive Skill Despite Structural Instability and Model Error. Fort Belvoir, VA: Defense Technical Information Center, September 2013. http://dx.doi.org/10.21236/ada601429.
Der volle Inhalt der QuelleMizuno, K., J. S. DeGroot, R. P. Drake und W. Seka. Collective Thomson scattering measurements of the Ion Acoustic Decay Instability. Final report. Office of Scientific and Technical Information (OSTI), Dezember 1993. http://dx.doi.org/10.2172/10143761.
Der volle Inhalt der QuelleYoung, P., P. Drake, Estabrook, K. Mizuno und J. S. De Groot. Final report of investigation of the Acoustic Decay Instability in laser plasma interaction. Office of Scientific and Technical Information (OSTI), Juli 1991. http://dx.doi.org/10.2172/6027882.
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