Alternative splicing and cancer: insights, opportunities, and challenges from an expanding view of the transcriptome

S Cherry, KW Lynch - Genes & Development, 2020 - genesdev.cshlp.org
Over the past decade there has been increased awareness of the potential role of
alternative splicing in the etiology of cancer. In particular, advances in RNA-Sequencing …

Alternative splicing and related RNA binding proteins in human health and disease

Y Tao, Q Zhang, H Wang, X Yang, H Mu - Signal Transduction and …, 2024 - nature.com
Alternative splicing (AS) serves as a pivotal mechanism in transcriptional regulation,
engendering transcript diversity, and modifications in protein structure and functionality …

Splicing neoantigen discovery with SNAF reveals shared targets for cancer immunotherapy

G Li, S Mahajan, S Ma, ED Jeffery, X Zhang… - Science Translational …, 2024 - science.org
Immunotherapy has emerged as a crucial strategy to combat cancer by “reprogramming” a
patient's own immune system. Although immunotherapy is typically reserved for patients with …

RNA splicing analysis using heterogeneous and large RNA-seq datasets

J Vaquero-Garcia, JK Aicher, S Jewell… - Nature …, 2023 - nature.com
The ubiquity of RNA-seq has led to many methods that use RNA-seq data to analyze
variations in RNA splicing. However, available methods are not well suited for handling …

A mitochondrial surveillance mechanism activated by SRSF2 mutations in hematologic malignancies

X Liu, SA Devadiga, RF Stanley, RM Morrow… - The Journal of Clinical …, 2024 - jci.org
Splicing factor mutations are common in myelodysplastic syndrome (MDS) and acute
myeloid leukemia (AML), but how they alter cellular functions is unclear. We show that the …

Alternative splicing of HOXB-AS3 underlie the promoting effect of nuclear m6A reader YTHDC1 on the self-renewal of leukemic stem cells in acute myeloid leukemia

C Wu, J Cui, Y Huo, L Shi, C Wang - International journal of biological …, 2023 - Elsevier
This research sought to elucidate the mechanism underlying the self-renewal capacity of
leukemic stem cells (LSCs) to offer new insights into the treatment of acute myeloid leukemia …

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity

E Molteni, E Bono, A Gallì, C Elena, J Ferrari, N Fiorelli… - Blood, 2023 - ashpublications.org
Systematic studies of germ line genetic predisposition to myeloid neoplasms in adult
patients are still limited. In this work, we performed germ line and somatic targeted …

A Bayesian model for unsupervised detection of RNA splicing based subtypes in cancers

D Wang, M Quesnel-Vallieres, S Jewell… - Nature …, 2023 - nature.com
Identification of cancer sub-types is a pivotal step for developing personalized treatment.
Specifically, sub-typing based on changes in RNA splicing has been motivated by several …

Unique role of DDX41, a DEAD-box type RNA helicase, in hematopoiesis and leukemogenesis

S Shinriki, H Matsui - Frontiers in oncology, 2022 - frontiersin.org
In myeloid malignancies including acute myeloid leukemia (AML) and myelodysplastic
syndromes (MDS), patient selection and therapeutic strategies are increasingly based on …

Contrasting and combining transcriptome complexity captured by short and long RNA sequencing reads

SW Han, S Jewell, A Thomas-Tikhonenko… - Genome …, 2024 - genome.cshlp.org
Mapping transcriptomic variations using either short-or long-read RNA sequencing is a
staple of genomic research. Long reads are able to capture entire isoforms and overcome …