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Prototype Based Recognition of Splice Sites
Splice site recognition is an important subproblem of de novo gene finding, splice junctions constituting the boundary between coding and non-coding...
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Analysis of Expression, Mutation, and Alternative Splice Variants of Candidate Genes, MLO2 and MLO6A, Involved in Powdery Mildew Susceptibility in Mulberry (Morus spp.)
Mulberry is a fast-growing perennial crop commercially exploited as the sole source of food for the mulberry silkworm, Bombyx mori , for the...
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BaseScope™ Approach to Visualize Alternative Splice Variants in Tissue
Defining the cell-specific alternative splicing landscape in complex tissues is an important goal to gain functional insights. Deep-sequencing...
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Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle
BackgroundInherited epidermolysis bullosa (EB) is a group of painful and life-threatening genetic disorders that are characterized by mechanically...
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Local tropicalizations of splice type surface singularities
Splice type surface singularities were introduced by Neumann and Wahl as a generalization of the class of Pham–Brieskorn–Hamm complete intersections...
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Specificity, synergy, and mechanisms of splice-modifying drugs
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we...
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Meta-analysis of Osteopontin splice variants in cancer
BackgroundThe cytokine Osteopontin is a mediator of tumor progression and cancer metastasis. In 2006, we reported that (in addition to the...
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ASAPA: a bioinformatic pipeline based on Iso-Seq that identifies the links among alternative splicing, alternative transcription initiation and alternative polyadenylation
Background: Although the events associated with alternative splicing (AS), alternative polyadenylation (APA) and alternative transcription initiation...
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Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases
The last decade (2013–2023) has seen unprecedented successes in the clinical translation of therapeutic antisense oligonucleotides (ASOs). Eight such...
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High-Throughput RNA-HCR-FISH Detection of Endogenous Pre-mRNA Splice Variants
RNA-fluorescence in situ hybridization (RNA-FISH) is an essential and widely used tool for visualizing RNA molecules in intact cells. Recent advances...
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A framework for individualized splice-switching oligonucleotide therapy
Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases
1 , but the systematic...
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Multi-scale Algorithm and SNP Based Splice Site Prediction
In the post-genomic era, gene function prediction get more and more attention. Splice site prediction is one of the most important part of those...
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Alternative splicing controls teneurin-3 compact dimer formation for neuronal recognition
Neuronal network formation is facilitated by recognition between synaptic cell adhesion molecules at the cell surface. Alternative splicing of cell...
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PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects
The carboxy-terminus of the spliceosomal protein PRPF8 , which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis...
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SpliceSCANNER: An Accurate and Interpretable Deep Learning-Based Method for Splice Site Prediction
The identification of splice sites is significant to the delineation of gene structure and the understanding of complicated alternative mechanisms...
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Alternative splicing of latrophilin-3 controls synapse formation
The assembly and specification of synapses in the brain is incompletely understood
1 –3 . Latrophilin-3 (encoded by Adgrl3 , also known as Lphn3 )—a...
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Transcription Factors and Splice Factors—Interconnected Regulators of Stem Cell Differentiation
Purpose of ReviewThe underlying molecular mechanisms that direct stem cell differentiation into fully functional, mature cells remain an area of...
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USP39 promotes hepatocellular carcinogenesis through regulating alternative splicing in cooperation with SRSF6/HNRNPC
Abnormal alternative splicing (AS) caused by alterations in spliceosomal factors is implicated in cancers. Standard models posit that splice site...
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Axial Performance of Splice Connections for Fibre Reinforced Polymer Columns
A splice connection is introduced in this chapter for connecting tubular fibre reinforced polymer (FRP) members. This connection consists of a steel...
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Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine...
