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Showing 1 to 5 of 5 for “"splicing enhancer"”.

  1. Designer Exons Inform a Biophysical Model for Exon Definition

    … modules of our own design (including an exonic splicing enhancer or silencer). Studies were performed in vitro with a set of DEs obtained from random combinations of the exonic splicing enhancer and the exonic splicing silencer modules. The results showed considerable variability both in terms …

    columbia-diss Repository record for Designer Exons Inform a Biophysical Model for Exon Definition (opens in a new tab)

  2. 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, …

    nus Repository record for MOTONEURON MAINTENANCE DEFECTS AND NON-CELL AUTONOMOUS CONTRIBUTIONS BY SCHWANN CELLS IN ZEBRAFISH MUTANT AND MORPHANT MODELS FOR SPINAL MUSCULAR ATROPHY (opens in a new tab)

  3. Context-Dependent Function of the Splicing Factor hnRNP L

    … impacted (~95% of humans genes), alternative splicing is one of the most extensively used mechanisms for generating proteomic diversity and cellular complexity. Splicing of pre-mRNAs is carried out by a highly specialized, RNA-based macromolecular enzyme known as the spliceosome. The …

    utswmed Repository record for Context-Dependent Function of the Splicing Factor hnRNP L (opens in a new tab)

  4. Characterization of the mechanisms behind the alternative splicing of the mutually exclusive exons 18N and 18A in the sodium channel gene SCN8A and mutually exclusive exons 5N and 5A in the soldium channel gene SCN9A

    … tissue and developmentally regulated alternative splicing. Two such examples are those of the SCN8A (Nav 1.6) and SCN9A (Nav 1.7) genes. SCN8A gene contains two mutually exclusive exons, 18N and 18A. Transcripts with exon 18N have a conserved inframe stop codon that predicts the synthesis of a …

    the-open-u Repository record for Characterization of the mechanisms behind the alternative splicing of the mutually exclusive exons 18N and 18A in the sodium channel gene SCN8A and mutually exclusive exons 5N and 5A in the soldium channel gene SCN9A (opens in a new tab)

  5. Regulation of Human Papillomavirus Type 16 Late L1 mRNA Splicing

    … to cervical cancer. HPV-16 uses alternative splicing to regulate expression of early and late genes. HPV RNA elements and cellular factors control the expression level of viral proteins by regulating alternative splicing. This project was carried out to enhance our understanding of the …

    lund Repository record for Regulation of Human Papillomavirus Type 16 Late L1 mRNA Splicing (opens in a new tab)