Results 11 to 20 of about 258,637 (293)

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, Y. Long, R. Sarkar, H. Dhayan, E. Bruet, R. M. Winston, I. Vorechovsky, L. Castellano, N. J. Dibb   +8 more
core   +5 more sources

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, Geoffrey P. Shouse, Qi Zhou, Saied Mirshahidi, Chien-Shing Chen   +4 more
openaire   +5 more sources

A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]

BMC Bioinformatics, 2010
Background Polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Hicks Chindo, Vořechovský Igor, Churbanov Alexander   +2 more
doaj   +2 more sources

CLN6-related continuum phenotype caused by aberrant splicing. [PDF]

Epilepsia Open
AbstractNeuronal 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, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L.   +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 Medicine
Effective 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, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle   +7 more
doaj   +2 more sources

AEP promotes aberrant RNA splicing through DDX3X cleavage in solid tumors

The Journal of Clinical Investigation
Aberrant alternative splicing (AS) events have been identified in a variety of cancers. Although somatic mutations of splicing factors and dysregulation of RNA-binding proteins (RBPs) have been linked to AS and tumor malignancy, it remains unclear how ...
Yadong Xie, Haohao Zhang, Xinyang Song
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, Mahmoud Shekari Khaniani   +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, Dau-Ming Niu, Chi-Yu Lu, Shyr-Yi Lin, Ta-Chih Liu, Jan-Gowth Chang   +5 more
doaj   +1 more source

Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index [PDF]

American Journal of Human Genetics, 2023
Vicente A Yépez, Christian Mertes, Julien Gagneur   +2 more
exaly   +2 more sources

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, Amanda Warkentin, Andrew R Belch, Linda M Pilarski   +3 more
doaj   +1 more source