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Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria,...
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Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing
Cancer research has long relied on non-silent mutations. Yet, it has become overwhelmingly clear that silent mutations can affect gene expression and...
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CYP11B1 variants influence skeletal maturation via alternative splicing
We performed genome-wide association study meta-analysis to identify genetic determinants of skeletal age (SA) deviating in multiple growth...
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Dissecting SEPALLATA3 Splicing Variant Functions During Arabidopsis Vegetative Growth by amiRNA Technology
SEPALLATA ( SEP ) genes encode E-class floral homeotic transcriptional factors involved in regulation of flowering. In the present work, artificial...
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Alternative splicing and genetic variation of mhc-e: implications for rhesus cytomegalovirus-based vaccines
Rhesus cytomegalovirus (RhCMV)-based vaccination against Simian Immunodeficiency virus (SIV) elicits MHC-E-restricted CD8+ T cells that stringently...
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The SWI/SNF subunit BRG1 affects alternative splicing by changing RNA binding factor interactions with nascent RNA
BRG1 and BRM are ATPase core subunits of the human SWI/SNF chromatin remodelling complexes mainly associated with transcriptional initiation. They...
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A Method to Quantitatively Examine Heat Stress-Induced Alternative Splicing in Plants by RNA-Seq and RT-PCR
Alternative splicing (AS) of pre-mRNAs is a type of post-transcriptional regulation in eukaryotes that expands the number of mRNA isoforms. Intron...
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Alternative splicing diversifies the skeletal muscle transcriptome during prolonged spaceflight
BackgroundAs the interest in manned spaceflight increases, so does the requirement to understand the transcriptomic mechanisms that underlay the...
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USP15 and USP4 facilitate lung cancer cell proliferation by regulating the alternative splicing of SRSF1
The deubiquitinating enzyme USP15 is implicated in several human cancers by regulating different cellular processes, including splicing regulation....
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Transcriptome analysis of clock disrupted cancer cells reveals differential alternative splicing of cancer hallmarks genes
Emerging evidence points towards a regulatory role of the circadian clock in alternative splicing (AS). Whether alterations in core-clock components...
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PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
BackgroundDeep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination...
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Alternative splicing of mRNA in colorectal cancer: new strategies for tumor diagnosis and treatment
Alternative splicing (AS) is an important event that contributes to posttranscriptional gene regulation. This process leads to several mature...
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Importance of pre-mRNA splicing and its study tools in plants
Alternative splicing (AS) significantly enriches the diversity of transcriptomes and proteomes, playing a pivotal role in the physiology and...
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Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa
BackgroundCutis laxa is a connective tissue disease caused by abnormal synthesis or secretion of skin elastic fibers, leading to skin flabby and...
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Variations of intronic branchpoint motif: identification and functional implications in splicing and disease
The branchpoint (BP) motif is an essential intronic element for spliceosomal pre-mRNA splicing. In mammals, its sequence composition, distance to the...
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PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation
BackgroundPreviously, we identified an oncogenic splicing variant of DOCK5 in head and neck squamous cell carcinoma (HNSCC); however, the mechanism...
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Variety-Specific Transcriptional and Alternative Splicing Regulations Modulate Salt Tolerance in Rice from Early Stage of Stress
Salt stress poses physiological drought, ionic toxicity and oxidative stress to plants, which causes premature senescence and death of the leaves if...
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Fully sequencing the cassava full-length cDNA library reveals unannotated transcript structures and alternative splicing events in regions with a high density of single nucleotide variations, insertions–deletions, and heterozygous sequences
The primary transcript structure provides critical insights into protein diversity, transcriptional modification, and functions. Cassava transcript...
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SpliceAPP: an interactive web server to predict splicing errors arising from human mutations
BackgroundSplicing variants are a major class of pathogenic mutations, with their severity equivalent to nonsense mutations. However, redundant and...
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A transient in planta editing assay identifies specific binding of the splicing regulator PTB as a prerequisite for cassette exon inclusion
The dynamic interaction of RNA-binding proteins (RBPs) with their target RNAs contributes to the diversity of ribonucleoprotein (RNP) complexes that...
