Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 8 of 8 for “"chromosomal rearrangement"”.
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Prediction and Investigation of Novel Proteins in DNA Double Stranded Break Repair
… Mis-repaired and unrepaired DSBs lead to chromosomal rearrangement and genomic instability promoting tumorigenesis. DSBs are primarily repaired by two independent and highly conserved pathways: homologous recombination (HR) and non-homologous end joining (NHEJ). HR requires a homologous …
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Interrogation of CRISPR-Cas targeting specificity for mammalian genome engineering
… by Cas9 as well as relative rates of indel, chromosomal rearrangement, and translocation accompanying NHEJ repair. However, insert capture is largely limited to use in model cell lines and is fundamentally limited in sensitivity due to labeling of low frequency errors in DSB repair. To …
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The genetic and molecular analysis of the mfs(2)31 locus in Drosophila melanogaster : a novel suppressor of position-effect variegation
… gene which has been moved, by way of a chromosomal rearrangement, into a heterochromatic environment. The transcriptional repression at the variegating locus is thought to be a consequence of inappropriate packaging of the euchromatin asheterochromatin. Second site mutations which modify …
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Uniparental disomy as a cause for congenital malformations and or developmental delay in inherited apparently balanced chromosomal rearrangements
Chromosomal translocations are said to be balanced if there is no apparent gain or loss of genetic material. Apparently balanced chromosomal rearrangements are usually associated with a normal phenotype [Therman 1986, Daniel 1988]. However the frequency of mental retardation and congenital …
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Linking ecological divergence and reproductive isolation: a tale of two killifish
… chapters of my thesis, I tested whether or not chromosomal rearrangements have led to linkage disequilibrium between genes underlying reproductive isolation and genes underlying salinity tolerance. Many closely related species differ in chromosome number and shape. Chromosomal rearrangements can …
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I riarrangiamenti cromosomici nell'evoluzione del genoma dei Primati
Il genoma umano può essere suddiviso in tre grandi compartimenti in base al contenuto in GC e in geni. I tre compartimenti, nel nucleo, mostrano diversa localizzazione e grado di compattazione della cromatina. Per valutare l effetto che i riarrangiamenti cromosomici hanno nell alterazione o nella …
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Novel treatment strategy for ALK-positive Anaplastic Large Cell Lymphoma
… a T-cell non-Hodgkin lymphoma characterised by a chromosomal rearrangement [t(2;5) (p23;q25)] involving the ALK and NPM1 genes on chromosomes 2 and 5 respectively. This translocation generates the NPM-ALK fusion protein, a hyperactive tyrosine kinase that is the driving oncogenic event in ALCL. …
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A Mosquito DNA Transposon Agh1: Structure, Evolution and Evidence of Activity
… of many eukaryotic genomes. They are involved in chromosomal rearrangement by serving as substrates for homologous recombination, in creating new genes through a process of TE "domestication", and in modifying and shuffling existing genes by transducing neighboring sequences (Lander et al., 2001). …