Function of alternative splicing

O Kelemen, P Convertini, Z Zhang, Y Wen, M Shen… - Gene, 2013 - Elsevier
Almost all polymerase II transcripts undergo alternative pre-mRNA splicing. Here, we review
the functions of alternative splicing events that have been experimentally determined. The …

Exposing synonymous mutations

RC Hunt, VL Simhadri, M Iandoli, ZE Sauna… - Trends in Genetics, 2014 - cell.com
Synonymous codon changes, which do not alter protein sequence, were previously thought
to have no functional consequence. Although this concept has been overturned in recent …

RBPmap: a web server for mapping binding sites of RNA-binding proteins

I Paz, I Kosti, M Ares Jr, M Cline… - Nucleic acids …, 2014 - academic.oup.com
Regulation of gene expression is executed in many cases by RNA-binding proteins (RBPs)
that bind to mRNAs as well as to non-coding RNAs. RBPs recognize their RNA target via …

SRSF1-regulated alternative splicing in breast cancer

O Anczuków, M Akerman, A Cléry, J Wu, C Shen… - Molecular cell, 2015 - cell.com
Splicing factor SRSF1 is upregulated in human breast tumors, and its overexpression
promotes transformation of mammary cells. Using RNA-seq, we identified SRSF1-regulated …

Comprehensive identification of internal structure and alternative splicing events in circular RNAs

Y Gao, J Wang, Y Zheng, J Zhang, S Chen… - Nature …, 2016 - nature.com
Although previous studies demonstrated circular RNAs (circRNAs) does not exclusively
comprise mRNA exons, no study has extensively explored their internal structure. By …

[HTML][HTML] A high-resolution map of human enhancer RNA loci characterizes super-enhancer activities in cancer

H Chen, H Liang - Cancer cell, 2020 - cell.com
Although enhancers play critical roles in cancer, quantifying enhancer activities in clinical
samples remains challenging, especially for super-enhancers. Enhancer activities can be …

RNA helicases DDX5 and DDX17 dynamically orchestrate transcription, miRNA, and splicing programs in cell differentiation

E Dardenne, MP Espinoza, L Fattet, S Germann… - Cell reports, 2014 - cell.com
The RNA helicases DDX5 and DDX17 are members of a large family of highly conserved
proteins that are involved in gene-expression regulation; however, their in vivo targets and …

Exon-skipping antisense oligonucleotides for cystic fibrosis therapy

YJ Kim, N Sivetz, J Layne, DM Voss… - Proceedings of the …, 2022 - National Acad Sciences
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause
cystic fibrosis (CF), and the CFTR-W1282X nonsense mutation causes a severe form of CF …

GFAP splice variants fine-tune glioma cell invasion and tumour dynamics by modulating migration persistence

R Uceda-Castro, JV van Asperen, C Vennin… - Scientific Reports, 2022 - nature.com
Glioma is the most common form of malignant primary brain tumours in adults. Their highly
invasive nature makes the disease incurable to date, emphasizing the importance of better …

RNA splicing in human disease and in the clinic

D Baralle, E Buratti - Clinical science, 2017 - portlandpress.com
Defects at the level of the pre-mRNA splicing process represent a major cause of human
disease. Approximately 15–50% of all human disease mutations have been shown to alter …