(Q30379599)

21 June 2017

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

6

Gabriela Möslein

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Brigitte Royer-Pokora

8

object named as

Brigitte Royer-Pokora

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author name string

Beate Betz

1

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21 June 2017

Stephan Theiss

2

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21 June 2017

Murat Aktas

3

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21 June 2017

Carolin Konermann

4

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21 June 2017

Timm O Goecke

5

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21 June 2017

Gabriela Möslein

6

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21 June 2017

Heiner Schaal

7

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21 June 2017

1 January 2010

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Journal of Cancer Research and Clinical Oncology

21 June 2017

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21 June 2017

136

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21 June 2017

123-134

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21 June 2017

1

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https://scigraph.springernature.com/pub.10.1007/s00432-009-0643-z

21 June 2017

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cites work

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

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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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12 December 2020

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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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Predictive identification of exonic splicing enhancers in human genes

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12 December 2020

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

1 reference

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.

1 reference

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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12 December 2020

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

1 reference

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

12 December 2020

Genetic susceptibility to non-polyposis colorectal cancer

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12 December 2020

Systematic identification and analysis of exonic splicing silencers.

1 reference

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.

1 reference

12 December 2020

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00432-009-0643-Z

Identifiers

DOI

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21 June 2017

1 reference