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.
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Showing 1 to 20 of 39 for “"mosaicism"”.
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Cytogenetic studies of mosaicism
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Somatic mosaicism in development and paediatric cancer
Every mitotic cell division runs the risk of incorporating genomic changes into the daughter cell lineages. From the very first zygotic cleavage to the maintenance of trillions of cells in adulthood, these somatic mutations are acquired throughout life either via endogenous errors in DNA …
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Detection, causes and consequences of sex chromosome mosaicism
Sex chromosome mosaicism, including male mosaic loss of chromosome Y (LOY) and female mosaic loss of chromosome X (LOX), is the most common form of clonal haematopoiesis (CH) that can be defined as the age-related clonal expansion of blood cells with somatic mutations. With the decreased cost of …
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CONSEQUENCES OF CHROMATIN MOSAICISM AND PERSISTENCE IN NEURONAL PLASTICITY AND DISEASE
The regulatory information in genomes is not encoded in DNA sequence alone. The chromatin context, how the DNA is packaged and interacts with itself and other factors, enables variation upon the shared genome sequence. This thesis investigates how chromatin heterogeneity contributes to variability …
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Decoding Brain Somatic Mosaicism with New Single-Cell Copy Number Analysis Methods
… CNVs, limiting our understanding of genomic mosaicism in the brain. In this thesis, I present two novel and complementary computational approaches for high-resolution CNV analysis in single cells. The first, HiScanner, is a CNV detection method that integrates single-cell assay-specific …
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A Cytogenetic and Karyotypic Study of Eighty-Seven Patients Clinically Diagnosed as Having Down's Syndrome at Woodward State Hospital
… (69%) were trisomic, 26 (29.9%) showed possible mosaicism and 1 (1.15%) carried a translocation. Three of the residents, including the patient with a translocation, were one of a set of twins. Conclusion. The frequency of Down's syndrome based on a Woodward population of 750 residents was 11.6%. …
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Development of transgenic Ambystoma mexicanum (axolotl) to study cell fate during development and regeneration
… animals expresing the transgene with little mosaicism in F0 generation and transgenesis. We demonstrate here that plasmid injection into one cell stage axolotl embryo generates transgenic animals that display germline transmission of a transgene. However, the efficiency of simple plasmid …
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A NOVEL METHOD TO INTERFERE WITH GENE EXPRESSION IN MICE
… from the transgene was highly mosaic. The high mosaicism of F0 mice precluded their use for immediate expression analysis as it was hoped when the project was started. The high degree of mosaicism is also reflected by a low rate of germ line transmission. Only 6% of F1 mice expressed the …
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Array-based genomic diversity measures portray Mus musculus phylogenetic and genealogical relationships, and detect genetic variation among C57Bl/6J mice and between tissues of the same mouse
… between and within tissues indicates somatic mosaicism. Genotype differences detected within a mouse are a complex mixture of technical errors and biological differences. Detailed reconstruction experiments are therefore required to determine array sensitivity at detecting true biological …
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Výskyt očních vad u pacientek s Turnerovým syndromem
… of one X chromosome, alternatively a chromosomal mosaicism. It is often connected with a more frequent occurrence of some ocular diseases. In our study 81 girls and women with Turner syndrome from the age of 5 to 23 years old were repeatedly examined. The occurrence of ocular diseases and their …
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Karyotypes and Case Studies of Ten Individuals With Suspected Sex Chromosome Anomalies
… were found not to have Turner's syndrome or mosaicism for the syndrome. Two males suspected of being male Turner's phenotypes were found to have Down's syndrome but no indication of Turner's syndrome. One male was found to have chromatin negative Klinefelter's syndrome. One male had a …
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Karyotypes and Case Studies of 17 Down's Syndrome Individuals
… The mean age found for those individuals with mosaicism in this study is higher than those with trisomy 21, although it is not statistically significant. No significant difference in the prevalence of mosaics among patients born to young or old mothers was evident. Recommendations. A follow-up …
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Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities
… maternal cells during aging, confined placental mosaicism, and undiagnosed maternal sex chromosome abnormality. Except for 45,X, individuals with SCA usually have no ultrasound or postnatal findings. This makes follow-up for unresolved positive NIPT necessary; however, there are currently no …
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Visualizing Allele Specific Expression In Single Cells
… imprinting control region leads to epigenetic mosaicism, with some cells remaining effectively wild type with retained methylation while others are fully mutant with total loss of methylation. In showing this, we expanded SNP-FISH to work in tissues and developed a protocol for clonal bisulfite …
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The In Vitro Transgene Expression and In Vivo Transgene Integration of Condensed DNA Injected into the Cytoplasm of Murine Zygotes
… (16.7%), and the lowest percentage of mosaicism after 4 d in culture. Five PCR analyses of tail DNA gave conflicting results between 33.3% positive in two or more analyses to 2.8% positive in all five analyses. Southern Analysis detected 2.8% transgenesis. Cytoplasmic injection of …
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A Study of Histopathologic Outcomes of Women With Cryotherapy-Ineligible lesions on Cervicography
… canal, (3) contain abnormal vasculature (mosaicism, punctuations, or atypical blood vessels), and (4) are thick.Main outcome measures: Histologic diagnosis of high grade cervical intraepithelial neoplasia (CIN 2+) for each cryotherapy-ineligible acetowhite lesion type of the …
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A Study of Histopathologic Outcomes of Women With Cryotherapy-Ineligible lesions on Cervicography
… canal, (3) contain abnormal vasculature (mosaicism, punctuations, or atypical blood vessels), and (4) are thick.Main outcome measures: Histologic diagnosis of high grade cervical intraepithelial neoplasia (CIN 2+) for each cryotherapy-ineligible acetowhite lesion type of the …
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Computational Discovery and Analysis of rDNA Sequence Heterogeneity in Yeast
… these datasets are shown to reflect genome mosaicism within a population, and to identify strains with signs of genome hybridisation undetectable by other means. This information provides further insights into the dynamics of the rDNA region in the two yeast species. In particular, …
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Investigating the consequences of chromosome abnormalities arising during pre-implantation development of the mouse
… a mouse model for pre-implantation chromosome mosaicism was developed. Acute chromosome segregation errors were induced in cleavage stage mouse blastomeres by bypassing the spindle assembly checkpoint (SAC). This model was used to investigate the fate of abnormal cells within the developing …
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Contextual Insights into the Rett Syndrome Transcriptome
… this genetic strategy circumvents genetic mosaicism associated with female mouse models of RTT and identifies functionally distinct transcriptional changes between neighboring WT and mutant neurons, therefore providing key insights into phenotypic severity between RTT-associated mutation …
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