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
core +1 more source
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
core +2 more sources
Closing the circle : current state and perspectives of circular RNA databases [PDF]
, 2021 Circular RNAs (circRNAs) are covalently closed RNA molecules that have been linked to various diseases, including cancer. However, a precise function and working mechanism are lacking for the larger majority.
Vandesompele, Jo +2 more
core +1 more source
Medecine sciences : M/S, 2021 Advances in genetic and genomic research continue to increase our knowledge of hereditary diseases, and an increasing number of them are being attributed to aberrant splicing, thus representing ideal targets for RNA modulation therapies. New strategies to skip or re-include exons during the splicing process have emerged and are now widely evaluated in ...
Saoudi, Amel, Goyenvalle, Aurélie
openaire +3 more sources
Linking splicing to Pol II transcription stabilizes pre-mRNAs and influences splicing patterns.
PLoS Biology, 2006 RNA processing is carried out in close proximity to the site of transcription, suggesting a regulatory link between transcription and pre-mRNA splicing. Using an in vitro transcription/splicing assay, we demonstrate that an association of RNA polymerase ...
Martin J Hicks +3 more
doaj +1 more source
De novo prediction of PTBP1 binding and splicing targets reveals unexpected features of its RNA recognition and function. [PDF]
, 2014 The splicing regulator Polypyrimidine Tract Binding Protein (PTBP1) has four RNA binding domains that each binds a short pyrimidine element, allowing recognition of diverse pyrimidine-rich sequences.
Black, Douglas L +5 more
core +4 more sources
An overview of RNA splicing and functioning of splicing factors in land plant chloroplasts
RNA Biology, 2022 RNA splicing refers to a process by which introns of a pre-mRNA are excised and the exons at both ends are joined together. Chloroplast introns are inherently self-splicing ribozymes, but over time, they have lost self-splicing ability due to the ...
Xuemei Wang +4 more
doaj +1 more source
A conformational RNA zipper promotes intron ejection during non-conventional XBP1 mRNA splicing. [PDF]
, 2015 The kinase/endonuclease IRE1 is the most conserved signal transducer of the unfolded protein response (UPR), an intracellular signaling network that monitors and regulates the protein folding capacity of the endoplasmic reticulum (ER).
Acosta-Alvear, Diego +3 more
core +1 more source
npj Precision Oncology, 2020 Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with ...
Tyler Landrith +52 more
doaj +1 more source
RNA-Seq analysis of splicing in Plasmodium falciparum uncovers new splice junctions, alternative splicing and splicing of antisense transcripts. [PDF]
, 2011 Over 50% of genes in Plasmodium falciparum, the deadliest human malaria parasite, contain predicted introns, yet experimental characterization of splicing in this organism remains incomplete.
DeRisi, Joseph L +2 more
core +3 more sources