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 ...
Christian Mertes +2 more
exaly +2 more sources
Regulation of RNA Splicing: Aberrant Splicing Regulation and Therapeutic Targets in Cancer
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 +2 more
exaly +3 more sources
Aurora kinase A regulates cancer-associated RNA aberrant splicing in breast cancer [PDF]
Heliyon, 2023 The contribution of oncogenes to tumor-associated RNA splicing and the relevant molecular mechanisms therein require further elaboration. Here, we show that oncogenic Aurora kinase A (AURKA) promotes breast cancer-related RNA aberrant splicing in a ...
Sisi Li +7 more
doaj +2 more sources
Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development [PDF]
Iranian Journal of Basic Medical Sciences, 2017 Objective(s): The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by
Sima Mansoori Derakhshan +1 more
doaj +1 more source
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. [PDF]
PLoS ONE, 2017 While a base substitution in intron 4 of GLA (IVS4+919G>A) that causes aberrant alternative splicing resulting in Fabry disease has been reported, its molecular mechanism remains unclear.
Wen-Hsin Chang +5 more
doaj +1 more source
Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes. [PDF]
PLoS ONE, 2013 Aberrant pre-mRNA splice variants of hyaluronan synthase 1 (HAS1) have been identified in malignant cells from cancer patients. Bioinformatic analysis suggests that intronic sequence changes can underlie aberrant splicing.
Jitra Kriangkum +3 more
doaj +1 more source
The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
Frontiers in Medicine, 2022 X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura +6 more
doaj +1 more source
Therapeutic Targeting of Alternative Splicing: A New Frontier in Cancer Treatment
Frontiers in Oncology, 2022 The ability for cells to harness alternative splicing enables them to diversify their proteome in order to carry out complex biological functions and adapt to external and internal stimuli. The spliceosome is the multiprotein-RNA complex charged with the
Anthony J. Murphy +3 more
doaj +1 more source
Genome Biology, 2021 Background Long-read sequencing of full-length cDNAs enables the detection of structures of aberrant splicing isoforms in cancer cells. These isoforms are occasionally translated, presented by HLA molecules, and recognized as neoantigens. This study used
Miho Oka +11 more
doaj +1 more source
Alternative splicing in breast cancer
Journal of Bio-X Research, 2023 Alternative splicing allows a gene to produce multiple proteins and is the main source of human proteome diversity. Aberrant regulation of alternative splicing produces proteins with different structures and can lead to altered protein function ...
Xin Wen, Ze Yan, Li Sha
doaj +1 more source