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Article

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.

Biochemical and biophysical research communications - 5 Mar 2004

Singh Natalia N, Androphy Elliot J, Singh Ravindra N

Abstract excerpt

SMN1 and SMN2 represent the two nearly identical copies of the survival of motor neuron gene in humans. The most frequent cause of spinal muscular atrophy (SMA) is loss of SMN1 accompanied by the inability of SMN2 to compensate due to an inhibitory mutation at position 6 in exon 7 (C6U) that caus...

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Share to Cyclic AMP Response Element-Binding Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14766219
DOI: 10.1016/j.bbrc.2004.01.067

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14766219-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.PMID 14766219Read ↗

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

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

The Regulation and Regulatory Activities of Alternative Splicing of the SMN GeneSemantic proximity Read ↗

An intronic element contributes to splicing repression in spinal muscular atrophy.Semantic proximity Read ↗

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicingSemantic proximity Read ↗

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice siteSemantic proximity Read ↗

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genesSemantic proximity Read ↗

Evolving concepts on human SMN pre-mRNA splicing.Semantic proximity Read ↗

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genesSemantic proximity Read ↗

Splicing of a Critical Exon of Human <i>Survival Motor Neuron</i> Is Regulated by a Unique Silencer Element Located in the Last IntronSemantic proximity Read ↗

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.Semantic proximity Read ↗

Dual Masking of Specific Negative Splicing Regulatory Elements Resulted in Maximal Exon 7 Inclusion of SMN2 GeneSemantic proximity Read ↗

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