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

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype.

Nature communications - 22 Jan 2016

Martone J, Briganti F, Legnini I, Morlando M, Picillo E, Sthandier O, Politano L, Bozzoni I

Abstract excerpt

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Dystrophin
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Muscular Dystrophy, Duchenne

Share to Nerve Tissue Proteins

Share to Phenotype

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 26796035
DOI: 10.1038/ncomms10488
PMCID: PMC4736020

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype.PMID 26796035Read ↗

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.Semantic proximity Read ↗

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Semantic proximity Read ↗

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.Semantic proximity Read ↗

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.Semantic proximity Read ↗

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.Semantic proximity Read ↗

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.Semantic proximity Read ↗

Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy.Semantic proximity Read ↗

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.Semantic proximity Read ↗

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.Semantic proximity Read ↗

In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.Semantic proximity Read ↗

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