Regulation of RNA Splicing: Aberrant Splicing Regulation and Therapeutic Targets in Cancer [PDF]
Cells, 2021 RNA splicing is a critical step in the maturation of precursor mRNA (pre-mRNA) by removing introns and exons. The combination of inclusion and exclusion of introns and exons in pre-mRNA can generate vast diversity in mature mRNA from a limited number of ...
Keisuke Nimura
exaly +6 more sources
Aberrant Alternative Splicing Is Another Hallmark of Cancer [PDF]
International Journal of Cell Biology, 2013 The vast majority of human genes are alternatively spliced. Not surprisingly, aberrant alternative splicing is increasingly linked to cancer. Splice isoforms often encode proteins that have distinct and even antagonistic properties.
Michael Ladomery
doaj +5 more sources
Aberrant RNA Splicing in Cancer and Drug Resistance [PDF]
Cancers, 2018 More than 95% of the 20,000 to 25,000 transcribed human genes undergo alternative RNA splicing, which increases the diversity of the proteome. Isoforms derived from the same gene can have distinct and, in some cases, opposing functions. Accumulating evidence suggests that aberrant RNA splicing is a common and driving event in cancer development and ...
Bi-Dar Wang, Norman H Lee
exaly +4 more sources
Detection of aberrant splicing events in RNA-seq data using FRASER
Nature Communications, 2021 Aberrant splicing is a major contributor to rare disease, but detection accuracy using current methods is limited. Here, the authors develop an algorithm that detects aberrant splicing and intron retention events from RNA-seq data and apply it to ...
Vicente A Yépez +2 more
exaly +3 more sources
Mechanistic Insights of Aberrant Splicing with Splicing Factor Mutations Found in Myelodysplastic Syndromes [PDF]
International Journal of Molecular Sciences, 2021 Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic myeloid neoplasms characterized by many symptoms and a high
Naoyuki Kataoka
exaly +4 more sources
Aberrant alternative splicing in breast cancer [PDF]
Journal of Molecular Cell Biology, 2019 Abstract Alternative splicing is critical for human gene expression regulation, which plays a determined role in expanding the diversity of functional proteins. Importantly, alternative splicing is a hallmark of cancer and a potential target for cancer therapeutics.
Yang Wang, Zefeng Wang, Jinyao Zhao
exaly +3 more sources
SNRPB promotes gastric cancer progression by regulating aberrant splicing of PUF60 [PDF]
Cell Death and DiseaseAlternative splicing is a pivotal regulatory mechanism in cellular biology that critically influences the tumorigenesis, progression, and phenotypic diversity of cancer.
Dan Xiang +14 more
doaj +2 more sources
Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD [PDF]
Advanced ScienceAmyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two severe diseases sharing similar genetic, pathological, and clinical features, including TDP‐43 pathology.
Chen Du +6 more
doaj +2 more sources
Aberrant Splicing as a Mechanism for Resistance to Cancer Therapies. [PDF]
Cancers (Basel)Cancer is biologically diverse, highly heterogeneous, and associated with molecular alterations, significantly contributing to mortality worldwide. Currently, cancer patients are subjected to single or combination treatments comprising chemotherapy, surgery, immunotherapy, radiation therapy, and targeted therapy.
Duzgun D, Oltean S.
europepmc +3 more sources
saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval [PDF]
Genome BiologyRNA-seq data analysis relies on many different tools, each tailored to specific applications and coming with unique assumptions and limitations. Indeed, tools for differential transcript usage or rare disease diagnosis through splicing and expression ...
Alexandre Segers +5 more
doaj +2 more sources