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Intronic tRNAs of mitochondrial origin regulate constitutive and alternative splicing
BackgroundThe presence of nuclear mitochondrial DNA (numtDNA) has been reported within several nuclear genomes. Next to mitochondrial protein-coding...
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Identification of novel alternative splicing biomarkers for breast cancer with LC/MS/MS and RNA-Seq
BackgroundAlternative splicing isoforms have been reported as a new and robust class of diagnostic biomarkers. Over 95% of human genes are estimated...
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MCPIP1-mediated NFIC alternative splicing inhibits proliferation of triple-negative breast cancer via cyclin D1-Rb-E2F1 axis
Triple-negative breast cancer (TNBC) is the most aggressive subtype with the worst prognosis and the highest metastatic and recurrence potential,...
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Recruitment of a splicing factor to the nuclear lamina for its inactivation
Precursor messenger RNA splicing is a highly regulated process, mediated by a complex RNA-protein machinery, the spliceosome, that encompasses...
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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... -
Identification of novel alternative splicing associated with mastitis disease in Holstein dairy cows using large gap read map**
BackgroundMastitis is a very common disease in the dairy industry that producers encounter daily. Transcriptomics, using RNA-Sequencing (RNA - Seq)...
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RBM24 controls cardiac QT interval through CaMKIIδ splicing
Calcium/calmodulin-dependent kinase II delta ( CaMKIIδ ) is the predominant cardiac isoform and it is alternatively spliced to generate multiple...
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Alternative splicing of medaka bcl6aa and its repression by Prdm1a and Prdm1b
Bcl6 and Prdm1 (Blimp1) are a pair of transcriptional factors that repressing each other in mammals. Prdm1 represses the expression of bcl6 by...
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Splicing and Editing to Fine-Tune Activity of High Voltage-Activated Calcium Channels
The mRNA transcripts of voltage-gated calcium channels (VGCCs) are subjected to extensive alternative splicing giving rise to a plethora of channel... -
Co-transcriptional splicing efficiency is a gene-specific feature that can be regulated by TGFβ
Differential splicing efficiency of specific introns is a mechanism that dramatically increases protein diversity, based on selection of alternative...
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A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia
X-linked dominant hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function...
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The role of RNA-binding protein, microRNA and alternative splicing in seed germination: a field need to be discovered
Seed germination is the process through which a quiescent organ reactivates its metabolism culminating with the resumption cell divisions. It is...
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Dominance is common in mammals and is associated with trans-acting gene expression and alternative splicing
BackgroundDominance and other non-additive genetic effects arise from the interaction between alleles, and historically these phenomena play a major...
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Alternative Splicing for Improving Abiotic Stress Tolerance and Agronomic Traits in Crop Plants
Most eukaryotic genes undergo various post-transcriptional processing events before being translated into proteins. Alternative splicing (AS) is one...
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Uncovering Alternate Splicing Events and Premature Stop Codons Associated with Early Sucrose Accumulation in Sugarcane Using BSR-seq
Identification of the source of genetic variation in the large and complex genome of sugarcane has been comparatively less explored through...
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Cilia regeneration requires an RNA splicing factor from the ciliary base
Cilia are microtubule-based organelles projected from most eukaryotic cell surfaces performing cell motility and signaling. Several previously...
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Alternative exon splicing and differential expression in pancreatic islets reveals candidate genes and pathways implicated in early diabetes development
Type 2 diabetes (T2D) has a strong genetic component. Most of the gene variants driving the pathogenesis of T2D seem to target pancreatic β-cell...
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SVAT: Secure outsourcing of variant annotation and genotype aggregation
BackgroundSequencing of thousands of samples provides genetic variants with allele frequencies spanning a very large spectrum and gives invaluable...
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PTBP1 as a potential regulator of disease
Polypyrimidine tract-binding protein 1 (PTBP1) is a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, which plays a key role in...