(Q46901840)

26 December 2017

title

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes (English)

1 reference

26 December 2017

author

David Baux

3

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26 December 2017

Andreas Janecke

7

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26 December 2017

Mireille Claustres

8

object named as

Mireille Claustres

1 reference

PubMed ID

20052763

26 December 2017

Sylvie Tuffery-Giraud

10

object named as

Sylvie Tuffery-Giraud

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26 December 2017

Sandie Le Guédard-Méreuze

1

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26 December 2017

Christel Vaché

2

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26 December 2017

Valérie Faugère

4

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26 December 2017

Lise Larrieu

5

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26 December 2017

Caroline Abadie

6

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26 December 2017

Anne-Françoise Roux

9

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26 December 2017

publication date

1 March 2010

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26 December 2017

published in

Human Mutation

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26 December 2017

volume

31

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26 December 2017

issue

3

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26 December 2017

page(s)

347-355

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26 December 2017

Exon recognition in vertebrate splicing

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

Position-dependent repression and promotion of DQB1 intron 3 splicing by GGGG motifs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Functional analysis of splicing mutations in exon 7 of NF1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Comparative analysis detects dependencies among the 5' splice-site positions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Use of minigene systems to dissect alternative splicing elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Identification of novel USH2A mutations: implications for the structure of USH2A protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Human branch point consensus sequence is yUnAy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

GRSDB: a database of quadruplex forming G-rich sequences in alternatively processed mammalian pre-mRNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Biased exon/intron distribution of cryptic and de novo 3' splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

DINAMelt web server for nucleic acid melting prediction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Update on Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Use of an exon-trapping vector for the evaluation of splice-site mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Chromatin organization marks exon-intron structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Scanning from an independently specified branch point defines the 3' splice site of mammalian introns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Splice site strength-dependent activity and genetic buffering by poly-G runs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21193

7 January 2021

Identifiers

DOI

10.1002/HUMU.21193

1 reference

26 December 2017

PubMed ID

20052763

1 reference

26 December 2017