Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.

PloS one - 1 Jan 2012

Singh Natalia N, Seo Joonbae, Rahn Sarah J, Singh Ravindra N

Abstract excerpt

Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease. SMA patient cells devoid of SMN1 provide a powerful system to examine splicing pattern of various SMN2 exons. Until now, similar system to examine splicing of SMN1 exons was unavailable. We have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Genetic Techniques
Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuronal Ceroid-Lipofuscinoses

Share to Oligonucleotides

Share to RNA Splicing

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 23185376
DOI: 10.1371/journal.pone.0049595
PMCID: PMC3501452

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.PMID 23185376Read ↗

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy GeneSemantic proximity Read ↗

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

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Semantic proximity Read ↗

High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the TranscriptomeSemantic proximity Read ↗

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.Semantic proximity Read ↗

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

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damageSemantic proximity Read ↗

Splicing of the Survival Motor Neuron genes and implications for treatment of SMASemantic proximity Read ↗

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

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

Htra2-β 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 ( SMN2 )Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.