Dissertations / Theses on the topic 'Nijmegen Breakage Syndrome'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 26 dissertations / theses for your research on the topic 'Nijmegen Breakage Syndrome.'
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.
Mlody, Barbara [Verfasser]. "IPSC-based Modelling of Nijmegen Breakage Syndrome / Barbara Mlody." Berlin : Freie Universität Berlin, 2016. http://d-nb.info/111634470X/34.
Full textBlischke, Daniel [Verfasser], and Luitpold [Akademischer Betreuer] Distel. "Bruchpunktlokalisation beim Nijmegen Breakage Syndrome / Daniel Blischke. Betreuer: Luitpold Distel." Erlangen : Universitätsbibliothek der Universität Erlangen-Nürnberg, 2011. http://d-nb.info/1015782884/34.
Full textYeo, Tiong Chia. "Nijmegen breakage syndrome : role of nibrin in antigen receptor gene rearrangement and cellular responses to ionizing radiation /." Thesis, Connect to this title online; UW restricted, 2000. http://hdl.handle.net/1773/8340.
Full textShimada, Mikio. "Inactivation of the Nijmegen breakage syndrome gene NBS1 leads to excess centrosome duplication via the ATR/BRCA1 pathway." Kyoto University, 2009. http://hdl.handle.net/2433/123948.
Full text0048
新制・課程博士
博士(人間・環境学)
甲第14733号
人博第469号
新制||人||115(附属図書館)
20||人博||469(吉田南総合図書館)
UT51-2009-D445
京都大学大学院人間・環境学研究科相関環境学専攻
(主査)教授 小松 賢志, 教授 五十嵐 樹彦, 准教授 三浦 智行
学位規則第4条第1項該当
Habib, Raneem [Verfasser]. "Analysis of telomere length in patients with chromosomal instability syndromes, particularly Nijmegen Breakage Syndrome (NBS) and its mouse model by complementary technologies / Raneem Habib." Berlin : Freie Universität Berlin, 2012. http://d-nb.info/1027816428/34.
Full textFrappart, Pierre-Olivier. "Fonction biologique de la réponse aux lésions de l'ADN : étude génétique et moléculaire du gène responsable du Nijmegen Breakage Syndrome : NBS1." Montpellier, ENSA, 2005. http://www.theses.fr/2005ENSA0001.
Full textThe Nijmegen Breakage Syndrome (NBS) is an autosomal recessive disorder caused by mutations of the NBS 1 gene. Ln order to study the biological functions of the gene and its role in the tumorigenesis and in the central nervous system development, we generated NBS] mutant mouse models using conventional and conditional knock-out approaches. Homozygous disruption of the NBS] gene results in early embryonic letality associated with severe proliferation defects and increase apoptosis. Heterozygous NBS] mutant mice develop a large spectrum of epithelial tumours (liver, lung) in addition to lymphomas and exhibit a high susceptibility to ionising radiation. The inactivation of NBS] in neural stemlprogenitor cells leads to severe developmental defects of the central nervous system and particularly the cerebellum, including microcephaly, early postnatal ataxia. These anomalies are associated with impaired cellular proliferation of neuroprogenitor cells and increased cell death of post-mitotic differentiating neurones due to activation of the Atm/p53 DNA damage response pathway. Ln conclusion, these mouse models, as weIl as cells derived from mutant mice, which have been developed during my thesis represent powerful tools to study the function of the NBS 1 gene and the consequences of its inactivation
JOHNSON, BRIAN REAVES. "THE ROLE OF ATAXIA TELANGIECTASIA-MUTATED AND NIJMEGEN BREAKAGE SYNDROME PROTEIN-1 IN THE ACCUMULATION OF UVC-INDUCED DNA REPLICATION-DEPENDENT DOUBLE STAND BREAKS." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1022158038.
Full textGeier, Katja. "Durchflusszytometrische Diagnostik bei Verdacht auf Nijmegen Breakage Syndrom." Doctoral thesis, kostenfrei, 2008. http://nbn-resolving.de/urn/resolver.pl?urn=nbn:de:bvb:20-opus-27695.
Full textDegerman, Sofie. "The immortalization process of T cells with focus on the regulation of telomere length and telomerase activity /." Doctoral thesis, Umeå : Umeå University, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-33466.
Full textKieslich, Moritz Kaspar [Verfasser]. "Funktionelle Charakterisierung hypomorpher Proteinvarianten beim Nijmegen Breakage Syndrom / Moritz Kaspar Kieslich." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1043197524/34.
Full textYuan, Zhigang. "Functional characterization of roles of histone deacetylases in the regulation of DNA damage response." [Tampa, Fla.] : University of South Florida, 2007. http://purl.fcla.edu/usf/dc/et/SFE0002175.
Full textBuchwald, Svenja [Verfasser]. "Identifizierung veränderter Proteinexpression durch 2D-Gelelektrophorese beim Nijmegen Breakage Syndrom / Svenja Buchwald." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2015. http://d-nb.info/1079524738/34.
Full textThierfelder, Nadja Katherina. "Untersuchungen zur Apoptoseinduktion in lymphoblastoiden Zellen von Patienten mit Nijmegen-Breakage-Syndrom." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2006. http://dx.doi.org/10.18452/15496.
Full textThe human genetic disorder, Nijmegen-Breakage-Syndrome (NBS), is characterised by an in increased risk for cancer, particularly B-cell-lymphoma. The Nbs1-gene codes for a protein, Nibrin, involved in the processing/repair of DNA double strand breaks and in cell cycle checkpoints - mechanisms relevant for cancer-prevention. As a third mechanism, apoptosis is important in preventing cancer. To evaluate whether Nibrin plays a role in this process was the aim of this study. Failure of apoptosis-induction could be another factor responsible for the high cancer risk in NBS. For this purpose we examined a set of NBS-B-cell-lines for their capacitiy to enter into apoptosis after a DNA-damaging treatment with Bleomycin. The majority of NBS-cell-lines showed a deficiency in apoptosis-induction. This may indicate a function of Nibrin in mechanisms of apoptosis-regulation. Some NBS-cell-lines showed a proficient apoptotic response, though. The reason may be found in the variable genetic background of the cell lines, also responsible for the high clinical variability of the disease. Correlation of apoptosis rates with cancer incidence showed that all patients deficient in apoptosis had already developed B-cell-lymphoma, whereas patients with normal rates had not developed lymphoma so far. Possibly there are two groups of NBS-patients- patients with higher and with lower risk of malignancy, with reduced apoptotic rates being a risk-factor for the development of cancer in NBS.
Kim, Ryong [Verfasser]. "Assoziationsstudie zur klinischen Variabilität bei Patienten mit dem Nijmegen-Breakage- Syndrom / Ryong Kim." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2010. http://d-nb.info/1024743659/34.
Full textKrüger, Lars-Arne [Verfasser]. "Untersuchungen zur klinischen Variabilität der genetisch bedingten Krankheit Nijmegen- Breakage-Syndrom / Lars-Arne Krüger." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1027498485/34.
Full textLins, Stephan [Verfasser]. "Klinische Variabilität und Expression des mutierten 657del5-Allels beim Nijmegen Breakage Syndrom / Stephan Lins." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1035182408/34.
Full textManeva, Galina Stoyanova [Verfasser]. "Nijmegen Breakage Syndrom (NBS) : Krebsrisiko bei Heterozygotie für die Mutationen 657del5 und R215W / Galina Stoyanova Maneva." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2011. http://d-nb.info/1026174643/34.
Full textMelchers, Anna Maria Elisabeth [Verfasser]. "Neue Erkenntnisse zum Pathomechanismus des Nijmegen-Breakage-Syndroms durch die Proteomanalyse eines konditional nullmutanten Mausmodells / Anna Maria Elisabeth Melchers." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1027497659/34.
Full textKrenzlin, Harald [Verfasser]. "DNA-Doppelstrangbrüche führen zu Hyperaktivierung von Poly(ADP-Ribose)-Polymerase und oxidativem Stress beim Nijmegen-Breakage-Syndrom / Harald Krenzlin." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2014. http://d-nb.info/104656367X/34.
Full textThierfelder, Nadja Katherina [Verfasser], B. [Gutachter] Kaina, D. [Gutachter] Schindler, and M. [Gutachter] Digweed. "Untersuchungen zur Apoptoseinduktion in lymphoblastoiden Zellen von Patienten mit Nijmegen-Breakage-Syndrom / Nadja Katherina Thierfelder ; Gutachter: B. Kaina, D. Schindler, M. Digweed." Berlin : Humboldt-Universität zu Berlin, 2006. http://d-nb.info/1208078550/34.
Full textGeier, Katja [Verfasser]. "Durchflusszytometrische Diagnostik bei Verdacht auf Nijmegen-Breakage-Syndrom / vorgelegt von Katja Geier." 2008. http://d-nb.info/989202712/34.
Full textMaurer, Martin [Verfasser]. "Das Nijmegen-Breakage-Syndrom - Häufigkeit und Tumorrisiko heterozygoter Individuen / von Martin Maurer." 2007. http://d-nb.info/987999745/34.
Full textThierfelder, Nadja [Verfasser]. "Untersuchungen zur Apoptoseinduktion in lymphoblastoiden Zellen von Patienten mit Nijmegen-Breakage-Syndrom / von Nadja Thierfelder." 2006. http://d-nb.info/980732484/34.
Full textBeußel, Sandra [Verfasser]. "Strahlensensibilitätsgenvarianten als potenzielle Ursache des Nijmegen-breakage-Syndroms und bei Patientinnen mit bilateralem Mammakarzinom / vorgelegt von Sandra Beußel." 2008. http://d-nb.info/994563396/34.
Full textSimoneau, Antoine. "Étude du rôle de la phosphorylation du complexe Mre11-Rad50-Xrs2 dans le maintien de l'intégrité génomique." Thèse, 2012. http://hdl.handle.net/1866/9229.
Full textThe genome of every cell is constantly subjected to stresses that could compromise its integrity. DNA double-strand breaks (DSB) are amongst the most damaging events for a cell and can lead to gross chromosomal rearrangements, cell death and cancer if improperly repaired. Homologous recombination and non-homologous end joining (NHEJ) are the main repair pathways responsible for the repair of DSBs. However, the mechanistic basis of both pathways is fundamentally different and the regulation of the choice between both for the repair of DSBs remains largely misunderstood. The Mre11-Rad50-Xrs2 (MRX) complex acts as a DSB first responder and contributes to repair by both homologous recombination and NHEJ. Being at the crossroads of both DSB repair pathways, the MRX complex is therefore in a convenient position to influence the repair choice. This thesis unravels two distinct phosphorylation systems modifying the MRX complex and specifically regulating repair by NHEJ. The first relies on cell cycle progression and inhibits NHEJ, while the second requires the presence of DNA damage and is necessary for efficient NHEJ. Together, our results suggest a model in which the MRX complex would act as an integrator of phospho-stimuli in order to regulate the DSB repair pathway choice.
Drescher, Christina Helene Kunigunde [Verfasser]. "Unterschiede in der Reparatur von DNA-Doppelstrangbrüchen zwischen einer normalen menschlichen Zelllinie und einer Zelllinie mit Nijmegen-Breakage-Syndrom in den unterschiedlichen Phasen des Zellzyklus / vorgelegt von Christina Helene Kunigunde Drescher." 2010. http://d-nb.info/1008259470/34.
Full text