Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations (Q39880027)

15 September 2017

title

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations (English)

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15 September 2017

10

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15 September 2017

Eva Pros

1

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15 September 2017

Juana Fernández-Rodríguez

2

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15 September 2017

Belén Canet

3

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15 September 2017

Llúcia Benito

4

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15 September 2017

Aurora Sánchez

5

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15 September 2017

Ana Benavides

6

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15 September 2017

Feliciano J Ramos

7

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15 September 2017

María Asunción López-Ariztegui

8

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15 September 2017

Gabriel Capellá

9

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15 September 2017

Eduard Serra

11

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15 September 2017

Conxi Lázaro

12

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15 September 2017

publication date

1 March 2009

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15 September 2017

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15 September 2017

volume

30

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15 September 2017

issue

3

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15 September 2017

page(s)

454-462

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Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

15 September 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20933

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20933

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.20933

Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Inhibition of Epstein Barr Virus LMP1 gene expression in B lymphocytes by antisense oligonucleotides: uptake and efficacy of lipid-based and receptor-mediated delivery systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Genomic organization of the neurofibromatosis 1 gene (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Induced dystrophin exon skipping in human muscle explants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

RNAi-mediated silencing of CD40 prevents leukocyte adhesion on CD154-activated endothelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Efficient nucleofection of primary human B cells and B-CLL cells induces apoptosis, which depends on the microenvironment and on the structure of transfected nucleic acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Repair of a splicing defect in erythroid cells from patients with beta-thalassemia/HbE disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

7 January 2021

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

7 January 2021

A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

7 January 2021

Morpholino antisense oligomers: design, preparation, and properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

7 January 2021

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

7 January 2021

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20933

7 January 2021

Identifiers

DOI

10.1002/HUMU.20933

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15 September 2017

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