(Q40339014)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Luka A. Clarke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Luís Marques

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Margarida Duarte Amaral

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Hugo M Botelho

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

2 December 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

209-215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients.

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Protein traffic disorders: an effective high-throughput fluorescence microscopy pipeline for drug discovery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Exon and intron definition in pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Analysis of alternative splicing of cassette exons at single-cell level using two fluorescent proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Cystic fibrosis: toward personalized therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Management of comorbidities in older patients with cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Pick one, but be quick: 5' splice sites and the problems of too many choices

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Splice modulating therapies for human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Substances that can change alternative splice-site selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

New developments in exon skipping and splice modulation therapies for neuromuscular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

The spliceosome: design principles of a dynamic RNP machine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Non-viral vectors for gene-based therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

inferred from DOI database lookup

7 January 2021

based on heuristic

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22931

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22931

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26553470%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference