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 37 for “"CDKN2A"”.
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Malignant melanoma-Risk factors and the CDKN2A mutation in relation to phenotypes and other cancers.
… with the unique Swedish germline mutation in CDKN2A(113insArg), as well as study risk factors for CMM in women. Methods: Tumours associated with CMM, in individuals/probands with four or more primary tumours including at least one CMM were genotyped. The probands were further sub-grouped …
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The added value of BAP1 immunohistochemistry and fluorescence in situ hybridisation for CDKN2A/p16 and NF2 in the diagnosis and prognostication of pleural mesothelioma
… and Cyclin-dependent kinase inhibitor 2A gene (CDKN2A) fluorescence in situ hybridisation investigations (FISH) were performed. Two patients whose cases highlighted the importance of molecular based analysis were selected and further explored in the form of two case reports. The final …
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The neuronal RNA binding protein HuB as a potential tumor suppressor in glioblastoma
… maps to the same chromosomal band (9p21.3) as CDKN2A, the most frequently inactivated oncosuppressor in gliomas, giving the possibility that ELAVL2 loss is simply a consequence to the CDKN2A deletion and therefore a passenger, albeit very frequent, mutation. To test this possibility, we …
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Towards a B-Lymphoid Model of E2A-PBX1-Mediated Leukemogenesis: Evaluating the Impact of Hematopoietic Cell of Origin on the Transformation Properties of a Leukemogenic Transcription Factor
… effects by modulating expression of the Cdkn2a locus. Loss of Cdkn2a through deletion or Bmi1 overexpression failed to ameliorate the apoptotic response, suggesting that E2A-PBX1 mediated apoptosis occurs independently of Cdkn2a in murine pre-B cells. However, in the absence of Cdkn2a, …
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Transcriptional regulators in stem cell biology
… through both transcriptional repression of the Cdkn2a locus and other functions. Notably, BMI1 supports melanoma progression by activating epithelial-mesenchymal transition (EMT) programs, suggesting that its role in melanocytes may also be Cdkn2a-independent. We show that BMI1 is required for …
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An investigation of the contribution of cigarette smoking and human papillomavirus infection to the epigenetic modulation of cellular genes in cervical epithelium
… between cigarette smoking and the detection of CDKN2A methylation in cervical cytological samples, I used a unique cohort of 2011 women aged 15-19 who were recruited soon after they first had sexual intercourse. I have shown that compared with never-smokers, women who first started to smoke …
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Cambios epigenéticos, génicos y de expresión proteica en el cáncer de laringe. Análisis del segmento cromosómico 9P21
… de tumores, centrando nuestro estudio en CDKN2A y CDKN2B, localizados en el segmento cromosómico 9p21. 2. Analizar la expresión de las proteínas p15 y p16. 3. Relacionar el patrón de metilación con la expresión proteica. 4. Relacionar el patrón de metilación y la expresión proteica con los …
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Identification of germline variants that predispose to familial melanoma
… Non-synonymous mutations were found in CDKN2A, BRCA1, POT1 and BAP1. Disruptive variants were also observed in novel genes such as EXO5, TP53AIP and AMER1. An increased burden on variants in transcription factor binding motifs were observed in genes including SYK and SRC. A large …
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Genetic dissection of EGFRvIII brain and spinal mouse gliomas through whole-exome sequencing and in vivo piggyBac mutagenesis forward genetic screening
… of EGFRvIII, mutations of Trp53 and Tead2, and Cdkn2a deletion, through whole-exome sequencing. To shed further light on EGFR-cooperative genes for glioma progression, we conducted a genome-wide piggyBac transposon mutagenesis screen in vivo, which identified known glioma drivers (including …
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Prognostic Significance of Chromosome 9p Deletion in Clear Cell Renal Cell Carcinoma
… using a dual colour probe that hybridises to the CDKN2A region to facilitate further validation in future studies. There was a good degree of inter-observer agreement in the current study. Somatic copy number loss of chromosome 9p was associated with adverse histopathological features in ccRCC. It …
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UNDERSTANDING METASTASIS MIXED - TREATMENT RESPONSES THROUGH GENOMIC ANALYSES.
… that higher regulatory T cells (T reg) and CDKN2A gene expression values correlate with non-response, while the KRAS gene, KRAS amplicon, and CD8T cells were associated with response in individual metastases. These genomic features may explain mixed clinical responses and offer valuable …
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Perfiles de expresión de microRNAs y de alteraciones genéticas en tumores de origen glial
… del promotor de MGMT y número de copias de CDKN2A, TP53, PTEN, 1p /19q y NF1. En glioblastomas resultaron factores pronósticos de forma independiente la cirugía, el tratamiento postquirúrgico, la amplificación de EGFR y la pérdida conjunta de CDKN2A y PTEN. En cuanto a la metilación del …
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Exploring the Grey Zone between Type 1 and Type 2 Diabetes
… PPARG, KCNJ11, IGF2BP2, WFS1, CDKAL1, JAZF1, CDKN2A/2B, HHEX, SLC30A8 and FTO (study III) and MODY genes- HNF-4 , GCK, HNF-1 and HNF-1ß, formerly TCF2 (study IV), measured islet antibodies (ICA, IA-2A and GADA) and C-peptide (marker of beta-cell function instead of insulin). In Study I we …
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Identifying genetic biomarkers for diagnosis of prostate cancer in South African men
… genes included; CDH1, MKI67, TMPRSS2, ERG, CDKN2A, FASN, and AR but were not statistically significant. At a fold change threshold of 1.5, the following additional genes were downregulated in the PCa group with p values <0.05; DAXX, EGFR, RASSF1, SOX4, and TIMP2, upregulated genes were …
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Comparación de perfiles de metilación de genes supresores tumorales en distintos subgrupos de tumores vesicales no músculo-invasivos
… GSTP1 (p=0.034) y BRCA1 (p=0.031) en TaBG, para CDKN2A (p=0.022), PAX6 (p=0.026), ATM (p=0.002) y RB1 (p=0.006) para T1BG y para PAX5A (p=0.04), PTEN (p=0.017) y PYCARD (p=0.007) en T1AG. En el análisis multivariado, se confirmaron los genes WT1 (p=0.014), GSTP1 (p=0.034) y BRCA1 (p=0.034) en …
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Clinical importance of microsatellite instability and promoter methylation of DNA in colorectal cancer // Клинично значение на микросателитната нестабилност и промоторното метилиране на ДНК при колоректален карцином
… имунохистохимия на гените hMLH и CDKN2A (pl6), екстракция на ДНК, анализ на микросателитна нестабилност (МСН) и количествено изследване на промоторното метилиране на гените hMLH, pie, TIMP3 и TPEF/ НРР1 чрез пиросеквениране. Според резултатите в 77 процента от случаите КРК е …
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Characterisation of genetic and epigenetic aberrations in paediatric high grade glioma
… in 2/17 (12%) cases and concurrent loss of CDKN2A and BRAFV600E in 1/17 (6%) case. Genes involved in reelin/PI3K signaling (DAB1), RTK signaling (PTPRE), and arginine biosynthesis (ASS1 and ASL) were frequently deregulated by methylation in these tumours. The anti-growth and anti-migratory …
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Defining The Cooperation Between Mhc-I and Mhc-Ii Neoantigen-Driven T Cell Responses to Develop Effective Personalized Immunotherapies
… <em>Braf<sup>v600e</sup> Pten<sup>-/- </sup>Cdkn2a<sup>-/-</sup></em> YUMM1.7 (Y1.7) murine melanoma line with a paucity of endogenous neoantigens that is unresponsive to ICT, and introduced model neoantigens previously identified in a murine sarcoma tumor line expressing the same MHC …
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Targeted Epigenetic Editing to Increase Adult Pancreatic Β-Cell Proliferation
… that targeting TALE-DNMTs to the promoter of the CDKN2A locus, encoding the cell cycle inhibitor p16, increases proliferation in primary human fibroblasts. Finally, I developed BisPCR2, a novel technique for preparing targeted bisulfite next-generation sequencing libraries, which greatly improves …
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Dissecting the impact of SMAD4 loss and KRAS mutations in pancreatic ductal adenocarcinoma
… of mutations in four key genes: KRAS, TP53, CDKN2A and SMAD4; which have been shown to shape stromal composition. Lack of representation of complex genetic profiles in pre-clinical models of PDAC, which focus on Kras G12D and Trp53 mutations, alongside limited consideration of CAF …
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