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 …

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 …

APOBEC3B regulates R-loops and promotes transcription-associated mutagenesis in cancer

JL McCann, A Cristini, EK Law, SY Lee, M Tellier… - Nature Genetics, 2023 - nature.com
The single-stranded DNA cytosine-to-uracil deaminase APOBEC3B is an antiviral protein
implicated in cancer. However, its substrates in cells are not fully delineated. Here …

[HTML][HTML] Oncogenic signaling pathways in the cancer genome atlas

F Sanchez-Vega, M Mina, J Armenia, WK Chatila… - Cell, 2018 - cell.com
Genetic alterations in signaling pathways that control cell-cycle progression, apoptosis, and
cell growth are common hallmarks of cancer, but the extent, mechanisms, and co …

Spatial transcriptomics reveals niche-specific enrichment and vulnerabilities of radial glial stem-like cells in malignant gliomas

Y Ren, Z Huang, L Zhou, P Xiao, J Song, P He… - Nature …, 2023 - nature.com
Diffuse midline glioma-H3K27M mutant (DMG) and glioblastoma (GBM) are the most lethal
brain tumors that primarily occur in pediatric and adult patients, respectively. Both tumors …

SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response

P Bland, H Saville, PT Wai, L Curnow, G Muirhead… - Nature Genetics, 2023 - nature.com
SF3B1 hotspot mutations are associated with a poor prognosis in several tumor types and
lead to global disruption of canonical splicing. Through synthetic lethal drug screens, we …

Circular RNA in cancer

VM Conn, AM Chinnaiyan, SJ Conn - Nature Reviews Cancer, 2024 - nature.com
Over the past decade, circular RNA (circRNA) research has evolved into a bona fide
research field shedding light on the functional consequence of this unique family of RNA …

[HTML][HTML] The role of alternative splicing in cancer: From oncogenesis to drug resistance

R Sciarrillo, A Wojtuszkiewicz, YG Assaraf… - Drug Resistance …, 2020 - Elsevier
Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

Mouse totipotent stem cells captured and maintained through spliceosomal repression

H Shen, M Yang, S Li, J Zhang, B Peng, C Wang… - Cell, 2021 - cell.com
Since establishment of the first embryonic stem cells (ESCs), in vitro culture of totipotent cells
functionally and molecularly comparable with in vivo blastomeres with embryonic and …

U1 snRNP regulates cancer cell migration and invasion in vitro

JM Oh, CC Venters, C Di, AM Pinto, L Wan… - Nature …, 2020 - nature.com
Stimulated cells and cancer cells have widespread shortening of mRNA 3'-untranslated
regions (3'UTRs) and switches to shorter mRNA isoforms due to usage of more proximal …