Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. (Q30379599)

21 June 2017

title

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. (English)

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21 June 2017

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6

Gabriela Möslein

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Brigitte Royer-Pokora

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object named as

Brigitte Royer-Pokora

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author name string

Beate Betz

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Stephan Theiss

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Murat Aktas

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Carolin Konermann

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Timm O Goecke

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Gabriela Möslein

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Heiner Schaal

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21 June 2017

publication date

1 January 2010

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Journal of Cancer Research and Clinical Oncology

21 June 2017

published in

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volume

136

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issue

1

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page(s)

123-134

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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

21 June 2017

cites work

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12 December 2020

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

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Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

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Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

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Predictive identification of exonic splicing enhancers in human genes

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Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

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12 December 2020

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

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12 December 2020

A novel approach to describe a U1 snRNA binding site.

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12 December 2020

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

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12 December 2020

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?

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12 December 2020

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

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12 December 2020

Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition

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12 December 2020

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

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12 December 2020

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

12 December 2020

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

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12 December 2020

Insights into the selective activation of alternatively used splice acceptors by the human immunodeficiency virus type-1 bidirectional splicing enhancer

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12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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12 December 2020

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

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12 December 2020

Computational definition of sequence motifs governing constitutive exon splicing.

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12 December 2020

Genetic susceptibility to non-polyposis colorectal cancer

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Systematic identification and analysis of exonic splicing silencers.

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12 December 2020

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

1 reference

12 December 2020

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

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12 December 2020

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

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RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

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An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

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12 December 2020

10.1007/S00432-009-0643-Z

Identifiers

DOI

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21 June 2017

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