(Q39771109)

14 September 2017

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment (English)

1 reference

14 September 2017

6

1 reference

14 September 2017

Eva Pros

1

1 reference

14 September 2017

Juana Fernández-Rodríguez

2

1 reference

14 September 2017

Llúcia Benito

3

1 reference

14 September 2017

Anna Ravella

4

1 reference

14 September 2017

Gabriel Capellá

5

1 reference

14 September 2017

Eduard Serra

7

1 reference

14 September 2017

Conxi Lázaro

8

1 reference

14 September 2017

25 November 2009

1 reference

European Journal of Human Genetics

14 September 2017

1 reference

14 September 2017

18

1 reference

14 September 2017

5

1 reference

14 September 2017

614-617

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.212

14 September 2017

0 references

cites work

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

Treatment of spinal muscular atrophy by sodium butyrate

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987307

NF1mutation rather than individual genetic variability is the main determinant of theNF1-transcriptional profile of mutations affecting splicing

20 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.212

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19935827

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.212

1 reference

Dimensions Publication ID

14 September 2017

0 references

1 reference

14 September 2017

1 reference