(Q38357309)

2 September 2017

title

An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. (English)

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2 September 2017

Hidenobu Miyaso

1

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2 September 2017

Masayo Okumura

2

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2 September 2017

Shinichi Kondo

3

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2 September 2017

Satoshi Higashide

4

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2 September 2017

Hiroshi Miyajima

5

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2 September 2017

Kazunori Imaizumi

6

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2 September 2017

language of work or name

English

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publication date

25 February 2003

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Journal of Biological Chemistry

2 September 2017

published in

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2 September 2017

volume

278

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2 September 2017

issue

18

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2 September 2017

page(s)

15825-15831

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Identification and characterization of a spinal muscular atrophy-determining gene

2 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

On finding all suboptimal foldings of an RNA molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Polypyrimidine tract-binding protein positively regulates inclusion of an alternative 3'-terminal exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Classification of spinal muscular atrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Differential SMN2 expression associated with SMA severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

SMN oligomerization defect correlates with spinal muscular atrophy severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M209271200

21 January 2018

Identifiers

DOI

10.1074/JBC.M209271200

1 reference

2 September 2017

1 reference