Sources, resolution and physiological relevance of R-loops and RNA–DNA hybrids

E Petermann, L Lan, L Zou - Nature reviews Molecular cell biology, 2022 - nature.com
RNA–DNA hybrids are generated during transcription, DNA replication and DNA repair and
are crucial intermediates in these processes. When RNA–DNA hybrids are stably formed in …

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 …

[HTML][HTML] Pharmacologic modulation of RNA splicing enhances anti-tumor immunity

SX Lu, E De Neef, JD Thomas, E Sabio, B Rousseau… - Cell, 2021 - cell.com
Although mutations in DNA are the best-studied source of neoantigens that determine
response to immune checkpoint blockade, alterations in RNA splicing within cancer cells …

[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 …

Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms

DP Steensma, M Wermke, VM Klimek, PL Greenberg… - Leukemia, 2021 - nature.com
We conducted a phase I clinical trial of H3B-8800, an oral small molecule that binds Splicing
Factor 3B1 (SF3B1), in patients with MDS, CMML, or AML. Among 84 enrolled patients (42 …

H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers

M Seiler, A Yoshimi, R Darman, B Chan, G Keaney… - Nature medicine, 2018 - nature.com
Genomic analyses of cancer have identified recurrent point mutations in the RNA splicing
factor–encoding genes SF3B1, U2AF1, and SRSF2 that confer an alteration of function …

Alternative tumour-specific antigens

CC Smith, SR Selitsky, S Chai, PM Armistead… - Nature Reviews …, 2019 - nature.com
The study of tumour-specific antigens (TSAs) as targets for antitumour therapies has
accelerated within the past decade. The most commonly studied class of TSAs are those …

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 genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

AS Sperling, CJ Gibson, BL Ebert - Nature Reviews Cancer, 2017 - nature.com
Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of
mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal …

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 …