Exon Specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a Familial Dysautonomia mouse model. (Q52559115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

4

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25 March 2020

Helena Motaln

7

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25 March 2020

Boris Rogelj

8

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25 March 2020

author name string

Irving Donadon

1

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25 March 2020

Mirko Pinotti

2

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25 March 2020

Katarzyna Rajkowska

3

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25 March 2020

Elena Barbon

5

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25 March 2020

Elisabetta Morini

6

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25 March 2020

Federico Mingozzi

9

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25 March 2020

Susan A Slaugenhaupt

10

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25 March 2020

Franco Pagani

11

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25 March 2020

publication date

1 July 2018

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25 March 2020

published in

Human Molecular Genetics

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25 March 2020

volume

27

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25 March 2020

issue

14

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25 March 2020

page(s)

2466-2476

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Creative Commons Attribution-NonCommercial 4.0 International

25 March 2020

copyright license

start time

26 April 2018

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6030917/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

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15 July 2018

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Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

15 July 2018

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Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

15 July 2018

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15 July 2018

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15 July 2018

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15 July 2018

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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

15 July 2018

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15 July 2018

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15 July 2018

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

13 August 2018

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13 August 2018

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13 August 2018

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Neonatal intraperitoneal or intravenous injections of recombinant adeno-associated virus type 8 transduce dorsal root ganglia and lower motor neurons

13 August 2018

1 reference

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Comparative analysis detects dependencies among the 5' splice-site positions

13 August 2018

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

13 August 2018

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A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

13 August 2018

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A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29701768

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29701768

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDY151

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29701768%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference