Results 11 to 20 of about 154,659 (331)
Science, 2015 A model predicts the impact of variations in the human genome on RNA splicing and disease [Also see Research Article by Xiong et al. ]
Guigó Serra, Roderic +1 more
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Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing
Nature Communications, 2022 Wiskott-Aldrich syndrome is caused by mutations in WASP, but the underlying mechanisms remain to be explored. Here the authors reveal that WASP deficiency results in aberrant RNA splicing, and that WASP regulates the transcription of splicing factor ...
Baolei Yuan +35 more
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Exploring RNA modifications, editing, and splicing changes in hyperuricemia and gout
Frontiers in Medicine, 2022 Hyperuricemia and gout are two of the most common metabolic disorders worldwide; their incidence is increasing with changes in lifestyle, and they are correlated with many diseases, including renal and cardiovascular diseases.
Chung-Ming Huang +21 more
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RNA helicases in splicing [PDF]
RNA Biology, 2013 In eukaryotic cells, introns are spliced from pre-mRNAs by the spliceosome. Both the composition and the structure of the spliceosome are highly dynamic, and eight DExD/H RNA helicases play essential roles in controlling conformational rearrangements. There is evidence that the various helicases are functionally and physically connected with each other
Jean D. Beggs, Olivier Cordin
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PLoS Biology, 2023 Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled in Fmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that in Fmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral
Suna Jung +3 more
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Genome-wide regulation of KSHV RNA splicing by viral RNA-binding protein ORF57.
PLoS Pathogens, 2022 RNA splicing plays an essential role in the expression of eukaryotic genes. We previously showed that KSHV ORF57 is a viral splicing factor promoting viral lytic gene expression.
Vladimir Majerciak +4 more
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Asian Journal of Andrology, 2023 A complete proteomics study characterizing active androgen receptor (AR) complexes in prostate cancer (PCa) cells identified a diversity of protein interactors with tumorigenic annotations, including known RNA splicing factors.
Sean Seltzer +4 more
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A mechanism for RNA splicing. [PDF]
Proceedings of the National Academy of Sciences, 1980 The most abundant of the stable small nuclear RNAs of eukaryotic cells, U-1 small nuclear RNA, is exactly complementary to the consensus sequences at RNA splice sites. We propose that this RNA is the recognition component of the nuclear RNA splicing enzyme and forms base pairs with both ends of an intron so as to align them for cutting and splicing.
John A. Rogers, Randolph Wall
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Cis- and trans-regulations of pre-mRNA splicing by RNA editing enzymes influence cancer development
Nature Communications, 2020 RNA editing and RNA splicing are involved in tumorigenesis. Here the authors report crosstalk between RNA editing and splicing by identifying ADAR1/2-dependent splicing events in esophageal squamous carcinoma cells.
Sze Jing Tang +13 more
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Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types [PDF]
, 2018 Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer.
Alvaro, Domenico +12 more
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