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 15 of 15 for “"aberrant splicing"”.
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Microarray and molecular genetic analysis of aberrant splicing in human drug metabolizing cytochromes P450 CYP2D6 and CYP2B6
… was devoted to the detection of alternative splicing within the Cytochrome P450 enzymes 2D6 and 2B6, mapping of the most common splice variants and to draw connections to certain single nucleotide polymorphisms (SNPs) and alleles. For both enzymes a splicing sensitive microarray was …
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Analysing the biological function of PS2V: an aberrant splicing phenomenon or evolutionarily conserved mechanism in Alzheimer’s disease
… known as familial AD. In some sporadic cases an aberrant splice variant of PSEN2 named PS2V is formed that can be found in inclusion bodies in the brain. PS2V results from the binding of the High Mobility Group A1a (HMGA1a) protein close to the splice donor site of exon 5 of PSEN2. HMGA1a is …
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Molecular Pathogenesis of Spinocerebellar Ataxia type 10
… a RNA-binding protein, Nova, which leads to the aberrant splicing of Nova target transcripts, including major inhibitory neurotransmitter receptors, glycine and GABA. Our study also indicated that the sequestration of the RNA-binding proteins by toxic expanded repeats result in complex SCA10 …
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Molecular Pathogenesis of Spinocerebellar Ataxia type 10
… a RNA-binding protein, Nova, which leads to the aberrant splicing of Nova target transcripts, including major inhibitory neurotransmitter receptors, glycine and GABA. Our study also indicates that the sequestration of the RNA-binding proteins by toxic expanded repeat results in complex SCA10 …
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Épissage alternatif et mutations ponctuelles de Pax5 chez la leucémie lymphoîde chronique et les lymphomes de cellules B
… the Pax5 transcript is subject to alternative splicing, thus producing multiple protein isoforms. Certain splicing events create a shift in the reading-frame and thus generate novel protein sequences, whereas other isoforms lack one or bath of the transactivation and inhibition domains of the …
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ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
… SMN protein levels leads to the dysregulation of splicing of downstream genes and thereby impairs cellular processes that most prominently affect MNs. Speculations as to the cause of this specific vulnerability of MNs include the selective aberrant splicing of critical MN-specific transcripts and …
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MOTONEURON MAINTENANCE DEFECTS AND NON-CELL AUTONOMOUS CONTRIBUTIONS BY SCHWANN CELLS IN ZEBRAFISH MUTANT AND MORPHANT MODELS FOR SPINAL MUSCULAR ATROPHY
… in a C6T nucleotide leading to differential splicing of exon 7. My novel zebrafish smn2 mutant established that C6T transition in hSMN2 disrupts an exonic splicing enhancer to cause aberrant splicing. The smn2 mutant exhibits features reminiscent of milder SMA patients, i.e. motoneuron loss, …
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Alternative Mrna Splicing Redefines The Landscape Of Commonly Dysregulated Genes Across The Acute Myeloid Leukemia Patient Population.
… to this disease. Here, I investigate pre-mRNA splicing events with significant variation and striking coregulation across distinct AML cohorts. I find that most splicing events are expected to alter the expression of a subset of AML-associated genes independent of known somatic mutations. In …
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INVESTIGATING ALTERNATIVE SPLICING REPROGRAMMING REGULATED BY THE E-CADHERIN/B-CATENIN AXIS
Alternative splicing (AS) is vital for proteome flexibility and its aberrations are key drivers of cancer progression. We identified an alternatively spliced exon cassette in myosin VI, an actin motor protein. In healthy epithelial tissues like the ovary and intestine, this exon cassette is …
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Investigations on the role of SLP-65 and other B cell signaling proteins in human leukemia
… protein was reduced or absent. Interestingly, aberrant SLP-65 mRNA splicing was detected in the tumor samples. Alternative exons containing pre-mature stop codons were included in the aberrantly spliced SLP-65 mRNA. These exons were shown to contain pre-mature stop codons leading to nonsense …
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Pan-Cancer Analysis of Non-Coding Driver Mutations
… spliceosomal RNAs since protein-coding splicing factors are frequently mutated in cancer. Indeed, I found a highly recurrent A>C somatic mutation at the third base of U1 spliceosomal RNA across several tumour types. This mutation changes the preferential A-U base-pairing between U1 and …
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Discovery of Immunogenic Neopeptides from Chimeric RNAs to Develop Peptide and mRNA Vaccines for Lung Cancer Treatment
… duplications, inversions, translocations, or aberrant splicing events, can be used as vaccine targets due to the neoantigenic peptide junctions formed in the translated proteins. RNA sequencing data from Lung Adenocarcinoma and Squamous Cell Carcinoma patients was analyzed for chimeric RNA …
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Targeting PRMT5 impairs cancer proliferation through splicing but promotes state shifts that enable resistance and disease progression
… methylates proteins involved in transcription, splicing, and translation. PRMT5 is expressed in a wide variety of tumor types, and preclinical studies show that PRMT5 inhibitors (PRMT5i) effectively suppress cancer cell proliferation. Despite this success, resistance to targeted therapies is …
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Mechanisms driving the expansion and progression of splicing factor-mutant clonal haematopoiesis
… non-haematological conditions. Mutations in splicing factor genes (namely SF3B1, SRSF2, and U2AF1) are frequent drivers of CH, particularly in the elderly, and confer a high risk of progression to haematological malignancy. Despite over a decade of research into CH, we still lack an …
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Aberrations of A Putative Tumor Suppressor Gene Sel1L In Pancreatic Ductal Adenocarcinoma
… (LOH), CpG island hypermethylation and/or aberrantly expressed microRNAs (miRNAs).</p> <p><strong>Material and methods: </strong>In 42 PDAC tumors, the <em>SEL1L</em> coding region was amplified using reverse transcription polymerase chain reaction (RT-PCR), and analyzed by agarose gel …