RNA-binding proteins in human genetic disease

F Gebauer, T Schwarzl, J Valcárcel… - Nature Reviews …, 2021 - nature.com
RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their
malfunction underlies the origin of many diseases. RBPs can recognize hundreds of …

Alternative splicing and cancer: a systematic review

Y Zhang, J Qian, C Gu, Y Yang - Signal transduction and targeted …, 2021 - nature.com
The abnormal regulation of alternative splicing is usually accompanied by the occurrence
and development of tumors, which would produce multiple different isoforms and diversify …

Roles and mechanisms of alternative splicing in cancer—implications for care

SC Bonnal, I López-Oreja, J Valcárcel - Nature reviews Clinical …, 2020 - nature.com
Removal of introns from messenger RNA precursors (pre-mRNA splicing) is an essential
step for the expression of most eukaryotic genes. Alternative splicing enables the regulated …

Co-occurring genomic alterations in non-small-cell lung cancer biology and therapy

F Skoulidis, JV Heymach - Nature Reviews Cancer, 2019 - nature.com
The impressive clinical activity of small-molecule receptor tyrosine kinase inhibitors for
oncogene-addicted subgroups of non-small-cell lung cancer (for example, those driven by …

RNA-binding proteins in tumor progression

H Qin, H Ni, Y Liu, Y Yuan, T Xi, X Li… - Journal of hematology & …, 2020 - Springer
RNA-binding protein (RBP) has a highly dynamic spatiotemporal regulation process and
important biological functions. They are critical to maintain the transcriptome through post …

Genomic analyses identify molecular subtypes of pancreatic cancer

P Bailey, DK Chang, K Nones, AL Johns, AM Patch… - Nature, 2016 - nature.com
Integrated genomic analysis of 456 pancreatic ductal adenocarcinomas identified 32
recurrently mutated genes that aggregate into 10 pathways: KRAS, TGF-β, WNT, NOTCH …

RNA-binding proteins in cancer: old players and new actors

B Pereira, M Billaud, R Almeida - Trends in cancer, 2017 - cell.com
RNA-binding proteins (RBPs) are key players in post-transcriptional events. The
combination of versatility of their RNA-binding domains with structural flexibility enables …

Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types

M Seiler, S Peng, AA Agrawal, J Palacino, T Teng… - Cell reports, 2018 - cell.com
Hotspot mutations in splicing factor genes have been recently reported at high frequency in
hematological malignancies, suggesting the importance of RNA splicing in cancer. We …

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 …

The functional impact of alternative splicing in cancer

H Climente-González, E Porta-Pardo, A Godzik… - Cell reports, 2017 - cell.com
Alternative splicing changes are frequently observed in cancer and are starting to be
recognized as important signatures for tumor progression and therapy. However, their …