Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Chronic lymphocytic leukemia: 2022 update on diagnostic and therapeutic procedures

M Hallek, O Al‐Sawaf - American journal of hematology, 2021 - Wiley Online Library
Disease overview Chronic lymphocytic leukemia (CLL) is one of the most frequent types of
leukemia. It typically occurs in elderly patients and has a highly variable clinical course …

RNA in cancer

GJ Goodall, VO Wickramasinghe - Nature Reviews Cancer, 2021 - nature.com
While the processing of mRNA is essential for gene expression, recent findings have
highlighted that RNA processing is systematically altered in cancer. Mutations in RNA …

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 …

A probabilistic classification tool for genetic subtypes of diffuse large B cell lymphoma with therapeutic implications

GW Wright, JD Phelan, ZA Coulibaly, S Roulland… - Cancer cell, 2020 - cell.com
The development of precision medicine approaches for diffuse large B cell lymphoma
(DLBCL) is confounded by its pronounced genetic, phenotypic, and clinical heterogeneity …

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 …

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

SMA Islam, M Díaz-Gay, Y Wu, M Barnes, R Vangara… - Cell genomics, 2022 - cell.com
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

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 …

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 …

Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns

AD Tang, CM Soulette, MJ van Baren, K Hart… - Nature …, 2020 - nature.com
While splicing changes caused by somatic mutations in SF3B1 are known, identifying full-
length isoform changes may better elucidate the functional consequences of these …