Results 21 to 30 of about 12,984 (193)
Mutations in the Caenorhabditis elegans U2AF large subunit UAF-1 alter the choice of a 3' splice site in vivo. [PDF]
PLoS Genetics, 2009 The removal of introns from eukaryotic RNA transcripts requires the activities of five multi-component ribonucleoprotein complexes and numerous associated proteins.
Long Ma, H Robert Horvitz
doaj +1 more source
International Journal of Genomics, 2022 Assessing the impact of variants of unknown significance on splicing has become a critical issue and a bottleneck, especially with the widespread implementation of whole-genome or exome sequencing.
Woori Jang +3 more
doaj +1 more source
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. [PDF]
PLoS ONE, 2015 The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last nucleotide of exon 4 of the Otc gene, affecting the 5' splice site and resulting in partial use ...
Ana Rivera-Barahona +8 more
doaj +1 more source
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. [PDF]
Hum Genome Var, 2018 CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous CHD7 mutations. A de novo variant in a CHD7 splicing acceptor site (NM_017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus ...
Katoh-Fukui Y +10 more
europepmc +4 more sources
PLoS Genetics, 2022 Pre-mRNA splicing is an essential step of eukaryotic gene expression carried out by a series of dynamic macromolecular protein/RNA complexes, known collectively and individually as the spliceosome.
Jessie M N G L Suzuki +5 more
doaj +1 more source
Intrinsic differences between authentic and cryptic 5' splice sites [PDF]
Nucleic Acids Research, 2003 Cryptic splice sites are used only when use of a natural splice site is disrupted by mutation. To determine the features that distinguish authentic from cryptic 5' splice sites (5'ss), we systematically analyzed a set of 76 cryptic 5'ss derived from 46 human genes.
Krainer, Adrian R. +2 more
openaire +3 more sources
Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides
Scientific Reports, 2021 Antisense oligomers (AOs) are increasingly being used to modulate RNA splicing in live cells, both for research and for the development of therapeutics.
Kristin A. Ham +7 more
doaj +1 more source
Clinical impact of splicing in neurodevelopmental disorders
Genome Medicine, 2020 Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Stephan J. Sanders +2 more
doaj +1 more source
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome [PDF]
Journal of Molecular and Cellular Cardiology, 2008 Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effect of 2398+1G>C on mRNA splicing was studied by
Qiuming, Gong +8 more
openaire +2 more sources
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites [PDF]
Journal of Human Genetics, 2007 A considerable fraction of mutations associated with hereditary disorders and cancers affect splicing. Some of them cause exon skipping or the inclusion of an additional exon, whereas others lead to the inclusion of intronic sequences or deletion of exonic sequences through the activation of cryptic splice sites. We focused on the latter cases and have
Hideki, Uchikawa +6 more
openaire +2 more sources