Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes (Q46901840)

26 December 2017

title

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

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26 December 2017

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26 December 2017

Andreas Janecke

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26 December 2017

Mireille Claustres

object named as

Mireille Claustres

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26 December 2017

Sylvie Tuffery-Giraud

object named as

Sylvie Tuffery-Giraud

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26 December 2017

author name string

Sandie Le Guédard-Méreuze

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26 December 2017

Christel Vaché

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26 December 2017

Valérie Faugère

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26 December 2017

Lise Larrieu

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26 December 2017

Caroline Abadie

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26 December 2017

Anne-Françoise Roux

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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

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26 December 2017

issue

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26 December 2017

page(s)

347-355

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26 December 2017

Exon recognition in vertebrate splicing

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

21 January 2018

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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

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

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

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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

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

7 January 2021

Functional analysis of splicing mutations in exon 7 of NF1 gene

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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

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7 January 2021

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

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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

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7 January 2021

Use of minigene systems to dissect alternative splicing elements

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7 January 2021

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

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7 January 2021

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

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

7 January 2021

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

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

7 January 2021

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

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

7 January 2021

Human branch point consensus sequence is yUnAy

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

7 January 2021

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

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

7 January 2021

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

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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

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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

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

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7 January 2021

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

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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

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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

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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

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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

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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

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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

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

7 January 2021

Update on Usher syndrome

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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

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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

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

7 January 2021

Identifiers

DOI

10.1002/HUMU.21193

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26 December 2017

1 reference

26 December 2017