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 10 of 10 for “"BAP1"”.
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The emerging roles of BAP1 and cancer stem cells in Malignant Mesothelioma
… mutations in (BRCA1-associated protein 1) BAP1 gene. BAP1 is a deubiquitinase and a tumour suppressor, involved in cell cycle, apoptosis, epigenetic modifications and DNA damage response. Herein, it has been demonstrated that BAP1 mutated and silenced MMe cells are more resistant to a DNA …
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Tumor Suppressor function of the deubiquitinating enzyme BAP1 and its substrate gamma-tubulin In regulation of cell cycle and genome stability
… enzyme, BRCA1 Associated Protein 1 (BAP1), was downregulated in metastatic adenocarcinoma breast cell lines compared to non-cancerous human breast epithelial cells. Reduced expression of BAP1 in breast cancer cell lines was associated with mitotic abnormalities. Rescue experiments …
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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
… recorded and BRCA1-associated protein 1 (BAP1) immunohistochemistry (IHC) performed; a final diagnosis was sought from subsequent specimens and hospital records. The second retrospective study involved identification of all mesothelioma cases diagnosed over a 12 year period, with those …
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Ligandi ibridi Sigma-HDAC come potenziale trattamento terapeutico per il melanoma uveale: design, sintesi e valutazione biologica
… disattivano l'istone H2A ubiquitina-idrolasi (BAP1) sono strettamente correlate alle forme metastatiche del melanoma uveale. Gli inibitori dell’ HDAC, tra i quali acido valproico (VPA), LBH-589 e altri, sono in grado di invertire gli effetti della perdita di funzionalità del BAP1 inducendo la …
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Using Tissue Morphology to Infer Intra-Tumor Variation in Molecular State and Response
… which intra-tumor variation in key driver genes, BAP1, PBRM1, and SETD2, can be inferred purely from the analysis of histopathology slides. Our work demonstrated for the first time that the morphology-genetics relationship was powerful enough for inference of intra-tumor heterogeneity in driver …
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REGULATION OF DEFENSE RESPONSES MEDIATED BY BON1 AND BAP2 IN ARABIDOPSIS THALIANA
… other proteins: BON1-associated protein 1 and 2 (BAP1, BAP2). The molecular link(s) between BON1 and BAP, and their negative regulation of plant defenses are not well understood. We report the identification and characterization of a new component in the BON1 regulatory pathway and our efforts in …
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Identification of germline variants that predispose to familial melanoma
… 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 deletion upstream of CDKN2A was …
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Drivers of melanoma susceptibility
… cancer 2 (BRCA2), BRCA1-associated protein-1 (BAP1) and in the promoter of the telomerase reverse transcriptase (TERT). However, about 50% of all familial melanoma cannot be explained by mutations in known genes. In this dissertation, I detail the methodology I followed in an effort to uncover …
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Genetic basis of inherited kidney and related tumours
… clinical RCC panel consisting of 6 genes (*BAP1*, *FH*, *FLCN*, *MET*, *SDHB*, *VHL*). Following this I explored whether a larger panel consisting of 121 cancer susceptibility genes (CSGs) would increase the diagnostic yield and identify novel CSG and RCC phenotype associations in …
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Rare Genetic Variants and Cancer Susceptibility
… associated with multiple cancers: APC, ATM, BAP1, BRCA1, BRCA2, CHEK2, MAP3K1, MLH1, MSH2, MSH6 and PALB2. In the joint cancer models, there was a significant enrichment of genes associated with cancer pairs breast-prostate, breast-ovarian, bowel-endometrial and breast-pancreatic. ATM was …