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

7

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Diana Eccles

5

object named as

Diana Eccles

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Michela Raponi

1

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Jana Kralovicova

2

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Ellen Copson

3

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Petr Divina

4

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Igor Vorechovsky

8

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

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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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A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

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Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

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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.

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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.

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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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Diffusion mechanisms in metallic supercooled liquids and glasses

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

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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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7 January 2021

Transposable elements in disease-associated cryptic exons

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21458

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11 May 2018

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11 May 2018