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Genes divided according to the relative position of the longest intron show increased representation in different KEGG pathways
Despite the fact that introns mean an energy and time burden for eukaryotic cells, they play an irreplaceable role in the diversification and...
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Detecting and Validating MAPT Mutations in Neurodegeneration Patients and Analysis of Exon Splicing Consequences
Mutation of MAPT has been observed in patients with parkinsonism, progressive supranuclear palsy, and corticobasal degeneration and is a significant...
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Structural insights into the cross-exon to cross-intron spliceosome switch
Early spliceosome assembly can occur through an intron-defined pathway, whereby U1 and U2 small nuclear ribonucleoprotein particles (snRNPs) assemble...
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Large-scale evaluation of the ability of RNA-binding proteins to activate exon inclusion
RNA-binding proteins (RBPs) modulate alternative splicing outcomes to determine isoform expression and cellular survival. To identify RBPs that...
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Disentangling genetic effects on transcriptional and post-transcriptional gene regulation through integrating exon and intron expression QTLs
Expression quantitative trait loci (eQTL) studies typically consider exon expression of genes and discard intronic RNA sequencing reads despite their...
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Regulation of micro- and small-exon retention and other splicing processes by GRP20 for flower development
Pre-mRNA splicing is crucial for gene expression and depends on the spliceosome and splicing factors. Plant exons have an average size of ~180...
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Differential exon usage of developmental genes is associated with deregulated epigenetic marks
Alternative exon usage is known to affect a large portion of genes in mammalian genomes. Importantly, different splice isoforms sometimes possess...
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The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
Deposition of the exon junction complex (EJC) upstream of exon-exon junctions helps maintain transcriptome integrity by preventing spurious...
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Comprehensive map** of exon junction complex binding sites reveals universal EJC deposition in Drosophila
BackgroundThe exon junction complex (EJC) is involved in most steps of the mRNA life cycle, ranging from splicing to nonsense-mediated mRNA decay...
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Exon junction complex shapes the m6A epitranscriptome
N6-methyladenosine (m 6 A), the most abundant modification of mRNA, is essential for normal development and dysregulation promotes cancer. m 6 A is...
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BDNF exon IV promoter methylation and antidepressant action: a complex interplay
BackgroundBDNF exon IV promoter methylation is a potential biomarker for treatment response to antidepressants in MDD. We have previously shown...
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Adaptive Exon Prediction Using Maximum Error Normalized Algorithms
Cloud computing ensures that large quantities of such sensitive data will be stored and managed securely. The gene collection labs ship uncooked or...
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Discovery of immunotherapy targets for pediatric solid and brain tumors by exon-level expression
Immunotherapy with chimeric antigen receptor T cells for pediatric solid and brain tumors is constrained by available targetable antigens....
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Truncated SCRIB isoform promotes breast cancer metastasis through HNRNP A1 mediated exon 16 skip**
Breast cancer is one of the most common malignant tumors with high mortality due to metastases. SCRIB, a scaffold protein mainly distributed in the...
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Mutational Bias and Natural Selection Driving the Synonymous Codon Usage of Single-Exon Genes in Rice (Oryza sativa L.)
The relative abundance of single-exon genes (SEGs) in higher plants is perplexing. Uncovering the synonymous codon usage pattern of SEGs will benefit...
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Position-dependent effects of RNA-binding proteins in the context of co-transcriptional splicing
Alternative splicing is an important step in eukaryotic mRNA pre-processing which increases the complexity of gene expression programs, but is...
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High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
BackgroundBiallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and...
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Biochemical and structural basis for differential inhibitor sensitivity of EGFR with distinct exon 19 mutations
Tyrosine kinase inhibitors (TKIs) are used to treat non-small cell lung cancers (NSCLC) driven by epidermal growth factor receptor (EGFR) mutations...
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Myocardin regulates exon usage in smooth muscle cells through induction of splicing regulatory factors
Differentiation of smooth muscle cells (SMCs) depends on serum response factor (SRF) and its co-activator myocardin ( MYOCD ). The role of MYOCD for...
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Exon-intron boundary inhibits m6A deposition, enabling m6A distribution hallmark, longer mRNA half-life and flexible protein coding
Regional bias of N 6 -methyladenosine (m 6 A) mRNA modification avoiding splice site region, calls for an open hypothesis whether exon-intron boundary...
