(Q38422287)

2 September 2017

title

Identification of splicing defects caused by mutations in the dysferlin gene (English)

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2 September 2017

Virginie Kergourlay

1

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David Salgado

David Salgado

4

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Marc Bartoli

Marc Bartoli

8

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Christophe Beroud

Christophe Béroud

5

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Nicolas Levy

Nicolas Lévy

6

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Gaëlle Blandin

3

Gaëlle Blandin

1 reference

2 September 2017

Ghadi Raï

2

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2 September 2017

Martin Krahn

7

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2 September 2017

publication date

1 December 2014

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2 September 2017

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2 September 2017

volume

35

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2 September 2017

issue

12

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2 September 2017

page(s)

1532-1541

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Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Defective membrane repair in dysferlin-deficient muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Genetic therapies for RNA mis-splicing diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22710

21 January 2018

Identifiers

DOI

10.1002/HUMU.22710

1 reference

2 September 2017

1 reference