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 …

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 …

Proteogenomics of non-smoking lung cancer in East Asia delineates molecular signatures of pathogenesis and progression

YJ Chen, TI Roumeliotis, YH Chang, CT Chen, CL Han… - Cell, 2020 - cell.com
Summary Lung cancer in East Asia is characterized by a high percentage of never-smokers,
early onset and predominant EGFR mutations. To illuminate the molecular phenotype of this …

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 …

Alternative‐splicing defects in cancer: splicing regulators and their downstream targets, guiding the way to novel cancer therapeutics

LM Urbanski, N Leclair… - Wiley Interdisciplinary …, 2018 - Wiley Online Library
Defects in alternative splicing are frequently found in human tumors and result either from
mutations in splicing‐regulatory elements of specific cancer genes or from changes in the …

Cancer the 'RBP'eutics–RNA-binding proteins as therapeutic targets for cancer

S Mohibi, X Chen, J Zhang - Pharmacology & therapeutics, 2019 - Elsevier
RNA-binding proteins (RBPs) play a critical role in the regulation of various RNA processes,
including splicing, cleavage and polyadenylation, transport, translation and degradation of …

Genetic Determinants of EGFR-Driven Lung Cancer Growth and Therapeutic Response In Vivo

G Foggetti, C Li, H Cai, JA Hellyer, WY Lin, D Ayeni… - Cancer discovery, 2021 - AACR
In lung adenocarcinoma, oncogenic EGFR mutations co-occur with many tumor suppressor
gene alterations; however, the extent to which these contribute to tumor growth and …

Punctuated evolution of canonical genomic aberrations in uveal melanoma

MG Field, MA Durante, H Anbunathan, LZ Cai… - Nature …, 2018 - nature.com
Cancer is thought to arise through the accumulation of genomic aberrations evolving under
Darwinian selection. However, it remains unclear when the aberrations associated with …

RNA splicing and cancer

E Wang, I Aifantis - Trends in cancer, 2020 - cell.com
RNA splicing is an essential process that governs many aspects of cellular proliferation,
survival, and differentiation. Considering the importance of RNA splicing in gene regulation …

Impacts and mechanisms of alternative mRNA splicing in cancer metabolism, immune response, and therapeutics

Q Peng, Y Zhou, L Oyang, N Wu, Y Tang, M Su, X Luo… - Molecular Therapy, 2022 - cell.com
Alternative pre-mRNA splicing (AS) provides the potential to produce diversity at RNA and
protein levels. Disruptions in the regulation of pre-mRNA splicing can lead to diseases. With …