Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. (Q34902920)

5 August 2017

title

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

1 reference

5 August 2017

author

Malgorzata Ewa Rogalska

object named as

Malgorzata Ewa Rogalska

2

0 references

Franco Pagani

object named as

Franco Pagani

4

0 references

author name string

Andrea Dal Mas

1

1 reference

5 August 2017

Erica Bussani

3

1 reference

5 August 2017

language of work or name

English

0 references

publication date

31 December 2014

1 reference

American Journal of Human Genetics

5 August 2017

published in

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5 August 2017

volume

96

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5 August 2017

issue

1

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5 August 2017

page(s)

93-103

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describes a project that uses

5 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4289686/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

8 July 2018

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8 July 2018

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U1 snRNA associates with TFIIH and regulates transcriptional initiation

8 July 2018

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8 July 2018

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

8 July 2018

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8 July 2018

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8 July 2018

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

Identification and characterization of a spinal muscular atrophy-determining gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4289686

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25557785

12 December 2020

inferred from PubMed ID database lookup

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25557785

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25557785

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2014.12.009

1 reference

5 August 2017

1 reference

5 August 2017

1 reference