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 41 for “"chromosomal aberrations"”.
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Genomic Characterization of Recurrent Chromosomal Aberrations in Retinoblastoma
… mutational events, specifically gain and loss of chromosomal regions harbouring key oncogenes and tumour suppressor genes, appear to underlie the progression of precursor lesions such as retinoma to retinoblastoma. Research thus far has implicated several cytogenetic aberrations in this sequence …
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Characterizing Chromosomal Aberrations in Cells Deficient for Both ATM and MSH2
… hypothesis, metaphase spreads were examined for chromosomal aberrations in B cells, which undergo genetically programmed DNA recombination and mutation. To bypass the lethality in <em>ATM<sup>-/-</sup>MSH2<sup>-/-</sup> </em>mice, a conditional knockout of ATM was bred onto an …
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High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders
… It is well established that constitutional chromosomal aberrations are an important cause for MR/CA. The screening for such chromosomal rearrangements is done by widely used routine analysis of banded metaphase chromosomes (karyotyping). Given the limited resolution of such analyses (5-10 …
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Chracterisation of Chromosomal Aberrations in Acute Lymphoblastic Leukaemia Patients Attending the University Teaching Hospital in Lusaka
… The aim of this study was to characterise chromosomal aberrations in acute lymphoblastic leukaemia patients attending University Teaching Hospital. Methodology: This descriptive study was undertaken at the University Teaching Hospital in Lusaka, Zambia in which blood samples from patients …
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Genetische Aberrationen mit einem Wachstumsvorteil in frühen Präkanzerosen des Urothels der Harnblase
… In order to understand the initial genetic aberrations reflecting growth advantage in bladder cancer we investigated first chromosomal aberrations and validated their biological potential at single cell level. Using multi-colour fluorescence in situ hybridisation (FISH; Urovysion) and Ki-67 …
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Driver genes associated to Broad Copy Number Aberrations in solid cancers
Large numerical and structural chromosomal aberrations (aneuploidy) are intrinsic features of tumour cells and cell transformation. The chromosomal aberrations are collectively called Broad Copy Number Aberrations (BCNAs) and mainly include aneuploidy (i.e. an incorrect number of one or more …
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BMP Signaling Regulates Germ Cell Pluripotency, Sexual Differentiation, and Cancer Susceptibility
… atypical gonadal or anatomical sex as well as chromosomal aberrations[1, 2]. Some cases are explained by the presence of chromosomal aberrations, but the cause of many others remains unknown. Such syndromes thus highlight the potential links between germ cell pluripotency, sexual …
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Computational Genomic Models For Spatio-Temporal Investigation of Early Lung Cancer Pathology
… AAH (<em>BRAF</em> vs <em>KRAS</em>), recurrent chromosomal aberrations (17p loss) and the presence of immune deregulation early in the pathogenesis of AAHs.</p> <p>Molecular changes, characteristic of NSCLCs, might also occur in normal tissues, preceding identifiable premalignancy-associated …
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Role of TLS Polymerases in Replication of DNA Lesions in Human Cells
… repair these lesions results in mutations or chromosomal aberrations that threaten the integrity of the genome. DNA damage tolerance mechanisms, including translesion synthesis (TLS), alleviate this block at the expense of increasing mutagenesis. Minor groove DNA lesions result from lipid …
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Analysis of Meiotic Cancer Testis Antigens and Their Contribution to Tumorigenesis
… of HORMAD1 leads to increased DNA breaks and chromosomal aberrations in response to replication stress. Collectively, our work supports the hypothesis that CTAs become abnormally expressed in cancer to buttress oncogenic behaviors and given their restrictive expression to the testes and …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… several conventional genetic tests to detect chromosomal aberrations, gene copy number variations, and candidate gene and mitochondrial gene mutations. After finding no abnormality ,I conducted whole exome sequencing (WES)in this family. After filtering the WES data, I compared five exome …
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Výskyt očních vad u pacientek s Turnerovým syndromem
… Turner syndrome is among the most common chromosomal aberrations. It is caused by a missing or structural anomaly 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 …
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Discovering GCNA: A Novel Regulator of Germline Genomic Stability
… the ability to generate variation by exchange of chromosomal segments during meiosis. During meiosis, hundreds of double-stranded DNA breaks are initiated at once, which if generated in most other cell types would introduce chromosomal aberrations. Germ cells, however, execute the formation of …
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The role of epigenetic changes in chemoresistant breast cancer cells
… between gene expression, epigenetic profiles and chromosomal aberrations in two different drug resistant cell lines. Taken together, this project suggests that the acquisition of chemoresistant phenotype is epigenetic in nature and may arise with a predictable pattern. Elucidating the specifics of …
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Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
… bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with …
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Molekulare Genomanalysen des invasiven Mammakarzinoms und Untersuchung des Einflusses chromosomaler Imbalancen auf die Genexpression
… used to make detailed resolutions of cytogenetic aberrations in invasive breast cancer. The most frequent changes found were gains of 1q, 8q, chromosome 20, and losses involving 16q, 19p, 17p and chromosome 22. The chromosomal imbalances correlated neither with extent of tumour growth, grade or …
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Modulation of mitotic progression and cell cycle checkpoints by phosphorylation-dependent protein-protein interactions
… and cancer progression through the induction of chromosomal aberrations and genomic instability. Polo-like-kinase-1 is a critical mitotic regulator, overexpressed in human tumors, that functions in mitotic entry after cellular stress, centrosome maturation, mitotic spindle control, and …
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The Role of the RNA-binding Protein ZFP36L1 in Suppression of Replication Stress-induced Genomic Instability
… by the increased mitotic CFS-characteristic chromosomal aberrations and MiDAS events at CFS loci observed in cells deficient in ZFP36L1. Finally, we also showed that a CRISPR/Cas9-mediated truncation in ZFP36L1, carrying a compromised lead-in sequence to its first ZF-domain, resulted in …
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Biological and functional consequences of polymorphisms in the XPD gene
… Lys751Gln in exon 23. Baseline and NNK-induced chromosomal aberrations (Ca) were assessed by cytogenetic analysis and then P values were calculated as estimates of sub-population differences for increased frequencies of CAs associated with the three XPD polymorphisms. I found significant …
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