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361
Kinase domain insertions define distinct roles of CLK kinases in SR protein phosphorylation
Published 2009Subjects:Journal article -
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364
Chromatin target of protein arginine methyltransferases alleviates cerebral ischemia/reperfusion-induced injury by regulating RNA alternative splicing
Published 2024-01-01“…Summary: RNA splicing is a post-transcriptional event that regulates many physiological and pathological events. …”
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365
The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes.
Published 2014“…Accurate pre-mRNA splicing by the spliceosome is a fundamental cellular mechanism required to remove introns that are present in most protein-coding transcripts. …”
Journal article -
366
Splice Variants of the RTK Family: Their Role in Tumour Progression and Response to Targeted Therapy
Published 2017-02-01Get full text
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367
Alternative splicing: an important mechanism for myometrial gene regulation that can be manipulated to target specific genes associated with preterm labour
Published 2007-06-01“…There is ample evidence to suggest that specific genes are co-ordinately regulated within the upper and lower regions of the myometrium prior to and during parturition and many of these genes are regulated by alternative pre-mRNA splicing. This mini-review highlights that expression of a range of different splicing factors, with defined roles in pre-mRNA splicing, is both temporally and spatially regulated within the uterine smooth muscle during pregnancy and labour. …”
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368
Impact of Alternative Splicing on the Human Proteome
Published 2017-08-01“…Here, we have developed an integrative approach to ask whether perturbations in mRNA splicing patterns alter the composition of the proteome. …”
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369
Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome.
Published 2016-06-01“…To reveal the functional consequence of altered RNA splicing due to the loss of MeCP2, we focused on the regulation of the splicing of the flip/flop exon of Gria2 and other AMPAR genes. …”
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370
PRMT5 and CDK4/6 inhibition result in distinctive patterns of alternative splicing in melanoma.
Published 2023-01-01“…We performed full-length mRNA sequencing on CHL1 and A375 melanoma cell lines treated with the CDK4/6 inhibitor palbociclib and the PRMT5 inhibitor GSK3326595 and analysed data for differential gene expression and differential pre-mRNA splicing induced by these agents. Changes in gene expression and RNA splicing were more extensive under PRMT5 inhibition than under CDK4/6 inhibition. …”
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371
Functional genetic analysis of motor neuron disease
Published 2010“…The results indicate that altered pre-mRNA splicing is a late occurrence in disease and more likely to be a consequence rather than the cause of motor neuron degeneration. …”
Thesis -
372
Insights into the U1 small nuclear ribonucleoprotein complex superfamily
Published 2014“…Although best known for its role in pre-messenger RNA (mRNA) splicing events, research over the past 20 years has revealed diverse functions of this ncRNA in mammalian cell types. …”
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373
Genome- and transcriptome-wide splicing associations with alcohol use disorder
Published 2023-03-01“…Abstract Genetic mechanisms of alternative mRNA splicing have been shown in the brain for a variety of neuropsychiatric traits, but not substance use disorders. …”
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374
DNA/RNA structure and processing in vitro and in cells: from probing to prediction
Published 2023“…Contextual machine learning is further applied to predict alternative RNA splicing in cells using RNA-binding protein (RBP) levels. …”
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Thesis-Doctor of Philosophy -
375
The role of the U5 snRNP in genetic disorders and cancer
Published 2021“…Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors. …”
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376
Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1.
Published 2017-01-01“…In addition, K700E mutant alters the RNA splicing of transcription factors TAL1 and GATA1. …”
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377
A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency
Published 2019-07-01“…Results of the minigene assay revealed that the mutation changed the mRNA splicing repertory. Conclusions The missense mutation of the HFM1 gene (c.3470G > A) may be a cause of POI. …”
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378
An investigation of the role of mutations in the spliceosome machinery in the myelodysplastic syndromes
Published 2022“…Mutations in splicing factor genes (including SF3B1, SRSF2 and U2AF1) occur in over half of MDS patients and result in aberrant pre-mRNA splicing of many target genes, indicating that aberrant spliceosome function plays a key role in the pathogenesis of MDS. …”
Thesis -
379
The genetics of myelodysplastic syndromes and the opportunities for tailored treatments
Published 2022-10-01“…RNA-splicing and DNA methylation mutations seem to occur early and are reported as driver mutations in over 50% of MDS patients. …”
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380
N6-methyladenosine reader protein YTHDC1 regulates influenza A virus NS segment splicing and replication.
Published 2023-04-01“…However, its role in virus mRNA splicing is largely unknown. Here, we identify the m6A reader protein YTHDC1 as a host factor that associates with influenza A virus NS1 protein and modulates viral mRNA splicing. …”
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