CLN6-related continuum phenotype caused by aberrant splicing. [PDF]
Epilepsia OpenAbstractNeuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. CLN6‐related NCLs include both late‐infantile and adult myoclonic form.
Invernizzi F +16 more
europepmc +5 more sources
Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders [PDF]
Experimental and Molecular MedicineEffective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology.
Htoo A. Wai +7 more
doaj +2 more sources
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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Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index [PDF]
American Journal of Human Genetics, 2023 Vicente A Yépez +2 more
exaly +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
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
openaire +2 more sources
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 splicing and drug resistance in AML [PDF]
Journal of Hematology & Oncology, 2016 The advent of next-generation sequencing technologies has unveiled a new window into the heterogeneity of acute myeloid leukemia (AML). In particular, recurrent mutations in spliceosome machinery and genome-wide aberrant splicing events have been recognized as a prominent component of this disease.
Rosalia de Necochea-Campion +4 more
openaire +3 more sources