RNA splicing factors as oncoproteins and tumour suppressors

H Dvinge, E Kim, O Abdel-Wahab… - Nature Reviews Cancer, 2016‏ - nature.com
The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

Therapeutic targeting of splicing in cancer

SCW Lee, O Abdel-Wahab - Nature medicine, 2016‏ - nature.com
Recent studies have highlighted that splicing patterns are frequently altered in cancer and
that mutations in genes encoding spliceosomal proteins, as well as mutations affecting the …

[HTML][HTML] Disruptive CHD8 mutations define a subtype of autism early in development

R Bernier, C Golzio, B **ong, HA Stessman, BP Coe… - Cell, 2014‏ - cell.com
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …

Hypoxia, hypoxia-inducible transcription factors, and renal cancer

J Schödel, S Grampp, ER Maher, H Moch, PJ Ratcliffe… - European urology, 2016‏ - Elsevier
Context Renal cancer is a common urologic malignancy, and therapeutic options for
metastatic disease are limited. Most clear cell renal cell carcinomas (ccRCC) are associated …

Regulation of alternative splicing through coupling with transcription and chromatin structure

S Naftelberg, IE Schor, G Ast… - Annual review of …, 2015‏ - annualreviews.org
Alternative precursor messenger RNA (pre-mRNA) splicing plays a pivotal role in the flow of
genetic information from DNA to proteins by expanding the coding capacity of genomes …

Coupling of RNA polymerase II transcription elongation with pre-mRNA splicing

T Saldi, MA Cortazar, RM Sheridan… - Journal of molecular …, 2016‏ - Elsevier
Pre-mRNA maturation frequently occurs at the same time and place as transcription by RNA
polymerase II. The co-transcriptionality of mRNA processing has permitted the evolution of …

Widespread intron retention diversifies most cancer transcriptomes

H Dvinge, RK Bradley - Genome medicine, 2015‏ - Springer
Background Somatic mutations affecting components of the RNA splicing machinery occur
with high frequencies across many tumor types. These mutations give rise to distinct …

The changing paradigm of intron retention: regulation, ramifications and recipes

G Monteuuis, JJL Wong, CG Bailey… - Nucleic acids …, 2019‏ - academic.oup.com
Intron retention (IR) is a form of alternative splicing that has long been neglected in
mammalian systems although it has been studied for decades in non-mammalian species …

Noncoding RNAs regulate alternative splicing in Cancer

Y Liu, X Liu, C Lin, X Jia, H Zhu, J Song… - Journal of Experimental & …, 2021‏ - Springer
AS (alternative splicing) is a fundamental process by which a gene can generate multiple
distinct mRNA transcripts to increase protein diversity. Defects in AS influence the …

[HTML][HTML] Nfib promotes metastasis through a widespread increase in chromatin accessibility

SK Denny, D Yang, CH Chuang, JJ Brady, JS Lim… - Cell, 2016‏ - cell.com
Metastases are the main cause of cancer deaths, but the mechanisms underlying metastatic
progression remain poorly understood. We isolated pure populations of cancer cells from …