(Q47684329)

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Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements

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scholarly article

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements (English)

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

author name string

Daniela Di Giacomo

1

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Pascaline Gaildrat

2

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Anna Abuli

3

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Julie Abdat

4

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Thierry Frébourg

5

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Mario Tosi

6

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Alexandra Martins

7

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

publication date

18 September 2013

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

34

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Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

11

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Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

1547-1557

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

Deciphering the splicing code

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Exon and intron definition in pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Overlapping splicing regulatory motifs--combinatorial effects on splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Quantitative evaluation of all hexamers as exonic splicing elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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.22428

21 January 2018

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

21 January 2018

Searching for splicing motifs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

7 January 2021

based on heuristic

inferred from DOI database lookup

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

7 January 2021

based on heuristic

inferred from DOI database lookup

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

7 January 2021

based on heuristic

inferred from DOI database lookup

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.22428

7 January 2021

based on heuristic

inferred from DOI database lookup

Distribution of exonic splicing enhancer elements in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22428

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22428

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

1 reference

Europe PubMed Central

4 February 2018

http://europepmc.org/abstract/MED/23983145

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