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 14 of 14 for “"splicing pattern"”.
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Integrative analysis of the metastatic neuroblastoma transcriptome
… RNA sequencing. First, I studied changes in splicing pattern in a cohort of 29 patients. V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog (MYCN) amplified NBLs showed a distinct splicing pattern affecting multiple cancer hallmarks. Six splicing factors have altered …
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Conservation of exon scrambling in human and mouse
… conserved genes were found to undergo scrambled splicing in both species. In several cases, not only the gene was conserved, but the particular exons involved were conserved as well. Reading frame was preserved in just over half of the events, indicating that although some transcripts may be …
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Interpretable Computational Modeling of pre-mRNA Splicing for Multiple Eukaryotic Species
… steps in eukaryotic gene expression is pre-mRNA splicing, whereby intronic sequences are excised from immature pre-mRNA transcripts and the remaining exonic sequences are joined together. This process is catalyzed by the spliceosome, a large complex of proteins and RNAs. A variety of RNA sequence …
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Characterisation of Tau splicing factors in Alzheimer’s disease
… of Alzheimer’s disease (AD). Alternative splicing of the tau pre-mRNA produces six tau isoforms with or without exon 10 (E10); tau4R or tau3R, microtubule binding repeats respectively. In normal human brains the ratio of 4R/3R tau is approximately one. Aberrant E10 splicing is also …
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BIOINFORMATICS ANALYSIS OF FULL-LENGTH RNA NANOPORE SEQUENCING AT SINGLE CELL LEVEL TO STUDY TRANSCRIPTIONAL AND MUTATIONAL PATTERNS IN HUMAN LEUKEMIA
… increased isoforms across all lineages. Detailed splicing pattern analyses revealed prevalent exon skipping and intron retention in AML samples. AML cells with the SRSF2 mutation exhibited significantly higher proportions of genes with multiple isoforms or novel transcripts. These findings …
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Building the Human Argonaute 2 Interaction Network
… target nuclear events such as transcription and splicing in human cells. In the case of transcription, we have shown that small RNAs are capable of targeting long noncoding RNAs (lncRNAs) along both the promoter and past the 3’ end of genes in order to control gene expression. We have also …
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In Vivo Studies of Yeast Mitochondrial Intron Splicing : Ectopic Branching and a Screen for Nuclear Encoded Splicing Factors
The splicing mechanism of group II introns is analogous to that of nuclear introns and it is generally thought that both share a common ancestor. This work contains two studies of group II intron splicing in yeast mitochondria. Previous studies done in collaboration with Dr. Anna Pyle at Yale …
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Design, synthesis, and analysis of conjugated activators for modulation of alternative splicing
… of many protein isoforms from a single gene. Splicing is controlled by SR proteins, factors which bind to exonic splicing enhancers (ESEs) through RNA binding domains and recruit the splicosome via protein-protein interactions mediated by their RS domains, protein domains rich in highly …
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Evolution Via Gene Duplication and Alternative Splicing In The Eukaryotic Ski7 and Hbs1 Genes
<p>Gene duplication and alternative splicing are both recognized as important drivers of proteomic diversity and innovation during evolution, but the evolutionary changes over long periods of time or the interrelations of the two processes has not been extensively studied. Here I study these …
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Identification and characterisation of the Spred protein family
… we investigated the mRNA and protein expression patterns of the two murine protein family members Spred-1 and Spred-2 on the whole organ level. Furthermore, we focussed on the cellular localisation and the role of human and murine Spred-2 in the organism. The expression patterns of Spred-1 and …
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Identification of a conserved alternative mRNA splicing program that supports hepatic growth and maturation during development and regeneration
… their high cellular complexity. Alternative splicing (AS), the most common PTGRM, is a process by which the exons of a pre-mRNA are spliced into different arrangements to produce structurally and functionally distinct mature mRNAs thereby contributing to the transcriptome complexity. …
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SR proteins in microRNA/mRNA biogenesis
<p>SR proteins are a family of splicing factors involved in the regulation of both constitutive and alternative splicing of pre-mRNAs. Despite years of studies, several big questions still remain: how the expression levels of SR proteins are regulated; what are the underlying mechanisms responsible …
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Expression profiling of second step splicing factors and role of PRP18a, a second step splicing factor in arabidopsis thaliana
Pre-mRNA splicing represents one of the most fundamental processes that is performed by snRNAs, proteins and a variety of non-snRNP proteins including PRP16, PRP17, PRP18, PRP22 and SLU7. In contrast to yeast and mammals, which contain single gene for each of their second step splicing factors, …
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Quantitative Bestimmung der 9-minus-Splice-Varante in CFTR-mRNA aus Rektumschleimhautbiopsie und deren Abhängigkeit von der Länge des Poly-T-Traktes in Intron 8 des CFTR-Gens
In dieser Arbeit wurde der Einfluss des TGmTn-Polymorphismus in Intron 8 des CFTR-Gens auf das Fehlspleißen des Exon 9 der CFTR-mRNA in Rektummukosabiopsien von 26 Probanden untersucht. Dem ermittelten Genotyp wurde der mittels neu etablierter semiquantitativer RT-PCR bestimmte Anteil an korrekt …