A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype (Q34184793)

31 July 2017

title

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype (English)

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31 July 2017

Jordan T Gladman

1

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31 July 2017

Thomas W Bebee

2

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31 July 2017

Chris Edwards

3

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31 July 2017

Xueyong Wang

4

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31 July 2017

Zarife Sahenk

5

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31 July 2017

Mark M Rich

6

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31 July 2017

Dawn S Chandler

7

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31 July 2017

publication date

12 August 2010

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31 July 2017

published in

Human Molecular Genetics

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31 July 2017

volume

19

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31 July 2017

issue

21

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31 July 2017

page(s)

4239-4252

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describes a project that uses

31 July 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2951869/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing

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Intron 7 conserved sequence elements regulate the splicing of the SMN genes

5 July 2018

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LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

5 July 2018

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A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

5 July 2018

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

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Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

5 July 2018

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The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene

5 July 2018

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5 July 2018

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Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

5 July 2018

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Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

5 July 2018

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5 July 2018

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

5 July 2018

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Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

5 July 2018

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How did alternative splicing evolve?

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In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

5 July 2018

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A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

5 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.

5 July 2018

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Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing

5 July 2018

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5 July 2018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Targeted disruption of the MYC antagonist MAD1 inhibits cell cycle exit during granulocyte differentiation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

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

5 July 2018

1 reference

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The survival motor neuron protein in spinal muscular atrophy

5 July 2018

1 reference

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Correlation between severity and SMN protein level in spinal muscular atrophy

5 July 2018

1 reference

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Identification and characterization of a spinal muscular atrophy-determining gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. A new spinal muscular atrophy syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

New insights into the pathogenesis of spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2951869

The role of the SMN gene in proximal spinal muscular atrophy

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinal muscular atrophy and hypertrophy of the calves

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ343

1 reference

31 July 2017

1 reference

31 July 2017

1 reference