Results 11 to 20 of about 374,748 (298)
RNA mis-splicing in disease [PDF]
Nature Reviews Genetics, 2015 The human transcriptome is composed of a vast RNA population that undergoes further diversification by splicing. Detecting specific splice sites in this large sequence pool is the responsibility of the major and minor spliceosomes in collaboration with numerous splicing factors.
Maurice S Swanson
exaly +3 more sources
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
doaj +1 more source
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
Olivier, Cordin, Jean D, Beggs
openaire +2 more sources
Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]
, 2015 Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold +16 more
core +8 more sources
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
doaj +1 more source
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
doaj +1 more source
Saturation mutagenesis reveals manifold determinants of exon definition. [PDF]
, 2017 To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene.
Anquetil, Vincent +9 more
core +2 more sources
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
doaj +1 more source
FOXP3 interacts with hnRNPF to modulate pre-mRNA alternative splicing [PDF]
, 2018 FOXP3 promotes the development and function of regulatory T cells mainly through regulating the transcription of target genes. RNA alternative splicing has been implicated in a wide range of physiological and pathophysiological processes.
Du, Jianguang +3 more
core +1 more source