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 20 for “"X inactivation"”.
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Studium exprese mutantních alel a stavu X inaktivace ve vztahu ke klinickým projevům vybraných monogenních X vázaných onemocnění
… genes. This imbalance is compensated by X inactivation (XCI) process, also known as primary X-inactivation, occurring in the early stage of embryogenesis. X inactivation is a random process and females are mosaics of two cell populations. The ratio of expressed alleles in women can be …
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Genomic characterization and comparative analysis of the Xce candidate region
… and rodents, undergo random X chromosome inactivation in early female embryos, a process by which the majority of the genes on one X chromosome in the female are silenced (inactive X, Xi) to create a transcription level matching that of the single X chromosome in males. Random inactivation …
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… we also report a family with extremely skewed X inactivation that produced the full phenotype of Lowe syndrome in a female. The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected …
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Histone modification and the epigenetics of X chromosome inactivation
… established using an in vitro model system for X inactivation; differentiating female embryonic stem cells. The results showed that the loss of tri-methylated lysine 4 of H3 preceded the loss of its di-methylated equivalent, which occurs during a time period of concurrent core histone …
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Autosomal random asynchronous replication is analogous to X-chromosome inactivation
… random class include X-linked genes subject to X inactivation, as well as a number of autosomal genes, including odorant receptors, immunoglobulins, T-cell receptors, interleukins, natural killer-cell receptors, and pheromone receptors. Random asynchronous replication of DNA in S-phase represents …
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The role of Xist RNA in the maintenance of X chromosome inactivation
… hypoacetylated on histone H4, confirming that X-inactivation can be maintained in the absence of Xist RNA. However, the Xist mutant inactive X was no longer enriched in histone macroH2A 1. Furthermore, the reactivation rate of GFP and Hprt increased, indicating Xist RNA does contribute to gene …
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States of Allelic Imbalance on the X Chromosomes in Human Females
… genes, spanning ~1-2 Mb, or by X chromosome inactivation, involving much of an entire chromosome. Recent studies have shown that genes on the two female X chromosomes exhibit a breadth of expression patterns ranging from complete silencing of one allele to fully balanced biallelic expression. …
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Single molecule techniques to probe decision-making processes in developmental biology
… stem cells (mESCs) during the process of X inactivation, to demonstrate our ability to perform single-cell, single-molecule assays that reveal both highly quantitative and spatial information. Accordingly, we adapted a high resolution, single-molecule RNA fluorescent in situ hybridization …
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Haplotype-Informed Allelic Imbalance Detection From Rna In Cancer
… we investigated the role of the phenomenon of X-inactivation in female carcinogenesis through a comprehensive profiling of allelic imbalance observed in the X chromosome using tumor samples from the females in the TCGA breast cancer cohort. We observed higher rates of chromosome-level allelic …
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Investigating lesions of Langerhans cells and their role in Lymphoproliferative diseases
… of LCH, clonality was assessed using an X inactivation assay based on the polymorphous region of the Human Androgen Receptor. To improve understanding of the assay, a study on post-mortem material was undertaken. This demonstrated a unique insight into patterns of X inactivation across …
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Physical and genetical investigation of the Xp11.3 region on the short arm of the human X-chromosome
The pattern of inactivation in the DXS8237E-UBE1-PCTK1 region is of particular interest, since the mechanisms of X chromosome inactivation and the escape from inactivation are, as yet, not fully understood. The inactivation status of the DXS8237E and PCTKl gene differ: the first undergoes normal …
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A molecular-genetic study of Congenital Nystagmus
… Idiopathic Nystagmus (CIN) patients and X-inactivation studies are performed. Subsequently, cell culture and RT-PCR work is performed to study expression of this gene. Additionally a pedigree with an atypical congenital nystagmus disorder is investigated and a new mutation within a known …
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Molecular genetics of the imprinted gene - SPROUTY3 (SPRY3)
… the pseudoautosomal region 2, undergoes random X-inactivation in females and preferential Y-inactivation in males, behaving as though genetically X-linked. Spry3 is widely expressed in neuronal tissues, being found at high levels in the cerebellum and particularly in the Purkinje cells which, …
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Cloning, stem cells and epigenetic reprogramming after nuclear transfer
… reactivated in NT embryos, resulting in normal X inactivation in female clones. Additionally, investigations into the factors that influence the survival of cloned animals, indicate that there are considerable genetic influences on the cloning process. These genetic factors modify the survival of …
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Clustering of immune-mediated diseases using genomic data
… a bicluster recovering the genes that escape X-inactivation and a bicluster capturing type 1 interferon response, enriched for samples from patients with systemic lupus erythematosus. I found that whilst it is an advantage that biclustering has sufficient complexity to describe the immune system …
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Somatic expansion of premutation alleles and the role of the mismatch repair and base excision repair proteins on repeat expansion in a mouse model of the fragile X-related disorders
… might be due to the fact that females undergo X inactivation and thus have the PM allele on the inactive X chromosome in half (~50%) of their cells. It also indicates that transcription and/or an open chromatin configuration is required for expansion in the FX PM mouse.
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X chromosome studies and breast and ovarian carcinoma
Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. Partial or complete reactivation of the inactive X in females may be a step in breast and ovarian cancer progression, leading to overexpression of some …
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Somatic Mutation in Cancer and Healthy Human Tissue
… the partner chromosome indicated the spread of X-inactivation onto the autosomal partner in glioblastoma and bladder cancer. This recurrent finding highlights a novel rare mechanism how translocations contribute to genome instability and gene expression modulation in cancer. Secondly, G&T-seq, a …
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Epigenetic Heritability in Somatic Cells
… the fourth chapter, I determine the timing of X inactivation and estimate the number of cells in an embryo at the moment each cell makes its choice of which parental copy to inactivate. In summary, I demonstrate that methylation is a stably inherited phenotype that is maintained through cell …
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Novel Tools for Investigating Microglia Cellular Turnover Kinetics and Microglia-CD4 T Cell Interaction
… a novel chimeric system, which utilises X-inactivation to create mosaic knockout mice to study the cellular mechanisms which underlie short-term microglia population kinetics under both homeostatic and inflammatory conditions. Studies have focused on the role of microglial MHCII expression …