(Q41830290)

12 October 2017

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. (English)

1 reference

12 October 2017

10

1 reference

12 October 2017

Elisabeth Castellanos

1

0 references

Eduard Serra

11

0 references

author name string

Elisabeth Castellanos

1

1 reference

12 October 2017

Imma Rosas

2

1 reference

12 October 2017

Ares Solanes

3

1 reference

12 October 2017

Isabel Bielsa

4

1 reference

12 October 2017

Conxi Lázaro

5

1 reference

12 October 2017

Cristina Carrato

6

1 reference

12 October 2017

Cristina Hostalot

7

1 reference

12 October 2017

Pepe Prades

8

1 reference

12 October 2017

Francesc Roca-Ribas

9

1 reference

12 October 2017

Eduard Serra

11

1 reference

12 October 2017

NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC

12

1 reference

12 October 2017

28 November 2012

1 reference

European Journal of Human Genetics

12 October 2017

1 reference

12 October 2017

21

1 reference

12 October 2017

7

1 reference

12 October 2017

769-773

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.261

12 October 2017

0 references

cites work

Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Splice modulating therapies for human disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Targeting RNA to treat neuromuscular disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Neurofibromatosis type 2 (NF2): a clinical and molecular review

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Neurofibromatosis type 2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Gene knockdowns in adult animals: PPMOs and vivo-morpholinos

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Merlin/neurofibromatosis type 2 suppresses growth by inhibiting the activation of Ras and Rac.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Membrane organization and tumorigenesis--the NF2 tumor suppressor, Merlin

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

NF2deficiency promotes tumorigenesis and metastasis by destabilizing adherens junctions

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Ruffling membrane, stress fiber, cell spreading and proliferation abnormalities in human Schwannoma cells

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Morpholino antisense oligomers: design, preparation, and properties

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Peripheral administration of antisense oligonucleotides targeting the amyloid-β protein precursor reverses AβPP and LRP-1 overexpression in the aged SAMP8 mouse brain

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Further genotype--phenotype correlations in neurofibromatosis 2.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Screening for germ-line mutations in the NF2 gene

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722955

Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.261

Genetic testing and screening of individuals at risk of NF2

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.261

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23188051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23188051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23188051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.261

1 reference

Dimensions Publication ID

12 October 2017

0 references

1 reference

12 October 2017

PubMed publication ID

23188051

1 reference