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 +8 more
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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 ...
Wang, Bi-Dar, Lee, Norman H.
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Background splicing as a predictor of aberrant splicing in genetic disease [PDF]
RNA Biology, 2022 Mutations of splice sites, auxiliary splicing elements and the splicing machinery cause a wide range of genetic disease. Here we report that many of the complex effects of splicing mutations can be predicted from background splicing information, with emphasis on BRCA1, BRCA2 and DMD.
D. Alexieva +8 more
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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
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Aberrant RNA Splicing in Cancer [PDF]
Annual Review of Cancer Biology, 2019 RNA splicing, the enzymatic process of removing segments of premature RNA to produce mature RNA, is a key mediator of proteome diversity and regulator of gene expression. Increased systematic sequencing of the genome and transcriptome of cancers has identified a variety of means by which RNA splicing is altered in cancer relative to normal cells ...
Luisa, Escobar-Hoyos +2 more
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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
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Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
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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
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.
Quan Yang +4 more
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