ArticleGenes, chromosomes & cancer2011
Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.
Article in Genes, chromosomes & cancer, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed.
- High de novo mutation rate in Iranian NF2-related schwannomatosis patients with a report of a novel NF2 mutation.Molecular biology reports · 2025Article
- Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy.Journal of clinical laboratory analysis · 2020Article
- Article
- Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.F1000Research · 2014Review
- In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.European journal of human genetics : EJHG · 2013Article
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Authors and funding
4 authors.
Funding
Abstract
This study examined the effects of 22 putative splicing mutations in the NF2 gene by means of transcript analysis and information theory based prediction. Fourteen mutations were within the dinucleotide acceptor and donor regions, often referred to as (AG/GT) sequences. Six were outside these dinucleotide regions but within the more broadly defined splicing regions used in the information theory based model. Two others were in introns and outside the broadly defined regions. Transcript analysis revealed exon skipping or activation of one or more cryptic splicing sites for 17 mutations. No alterations were found for the two intronic mutations and for three mutations in the broadly defined splicing regions. Concordance and partial concordance between the calculated predictions and the results of transcript analysis were found for 14 and 6 mutations, respectively. For two mutations, the predicted alteration was not found in the transcripts. Our results demonstrate that the effects of splicing mutations in NF2 are often complex and that information theory based analysis is helpful in elucidating the consequences of these mutations.
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