(Q53080407)

11 May 2018

title

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. (English)

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11 May 2018

author

Peter Johnson

6

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11 May 2018

Diana Baralle

7

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11 May 2018

Diana Eccles

5

object named as

Diana Eccles

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11 May 2018

Michela Raponi

1

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11 May 2018

Jana Kralovicova

2

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11 May 2018

Ellen Copson

3

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11 May 2018

Petr Divina

4

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11 May 2018

Igor Vorechovsky

8

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11 May 2018

publication date

8 March 2011

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11 May 2018

published in

Human Mutation

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11 May 2018

volume

32

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11 May 2018

issue

4

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11 May 2018

page(s)

436-444

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11 May 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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BRCA2 T2722R is a deleterious allele that causes exon skipping

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The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

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

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BRCA1 required for transcription-coupled repair of oxidative DNA damage

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Pre-mRNA secondary structures influence exon recognition.

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Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

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Inhibition by SR proteins of splicing of a regulated adenovirus pre-mRNA.

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Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

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

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Allele-specific recognition of the 3' splice site of INS intron 1

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

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Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression

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A BRCA1 nonsense mutation causes exon skipping

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Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family

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The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding

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Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

21 January 2018

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New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

21 January 2018

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SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans.

21 January 2018

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Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12.

21 January 2018

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Multiple roles of arginine/serine-rich splicing factors in RNA processing.

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A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

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The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors

21 January 2018

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

21 January 2018

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Inference of splicing regulatory activities by sequence neighborhood analysis

21 January 2018

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21 January 2018

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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

21 January 2018

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Systematic identification and analysis of exonic splicing silencers.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21458

General and specific functions of exonic splicing silencers in splicing control

21 January 2018

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Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

21 January 2018

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

21 January 2018

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RNA landscape of evolution for optimal exon and intron discrimination

21 January 2018

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Computational definition of sequence motifs governing constitutive exon splicing.

21 January 2018

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21 January 2018

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

21 January 2018

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Diffusion mechanisms in metallic supercooled liquids and glasses

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Concerted regulation of nuclear and cytoplasmic activities of SR proteins by AKT

21 January 2018

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7 January 2021

An intronic mutation within FGB (IVS1+2076 a-->g) is associated with afibrinogenemia and recurrent transient ischemic attacks

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7 January 2021

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

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7 January 2021

Branch site haplotypes that control alternative splicing

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7 January 2021

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

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7 January 2021

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

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7 January 2021

A missense variant within BRCA1 exon 23 causing exon skipping

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7 January 2021

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

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7 January 2021

The association of nonsense codons with exon skipping

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https://api.crossref.org/works/10.1002%2FHUMU.21458

7 January 2021

Transposable elements in disease-associated cryptic exons

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https://api.crossref.org/works/10.1002%2FHUMU.21458

7 January 2021

Functional recognition of the 3' splice site AG by the splicing factor U2AF35.

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21458

1 reference

11 May 2018

1 reference

11 May 2018