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

New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin.

Nature genetics - 1 May 1993

Cox G A, Phelps S F, Chapman V M, Chamberlain J S

Abstract excerpt

The dystrophin gene encodes several tissue-specific protein isoforms that are generated by alternative splicing and by transcription from at least three separate promoters. We have characterized the mutation in a new strain of mdx mice that results in aberrant splicing of both the 14 and 4.8 kilobase dystrophin mRNAs and disrupts expression of the muscle and brain 427K and nonmuscle 70K isoforms of dystrophin. In...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cloning, Molecular
Share to DNA Mutational Analysis

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

Share to Mice, Inbred C57BL

Share to Molecular Sequence Data

Share to Phenotype

Source

Identifiers

PMID: 8099842
DOI: 10.1038/ng0593-87

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin.PMID 8099842Read ↗

Differential expression of dystrophin isoforms in strains of mdx mice with different mutations.Semantic proximity Read ↗

Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform.Semantic proximity Read ↗

Complete deletion of all alpha-dystrobrevin isoforms does not reveal new neuromuscular junction phenotype.Semantic proximity Read ↗

Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein.Semantic proximity Read ↗

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.Semantic proximity Read ↗

PCR analysis of muscular dystrophy in mdx mice.Semantic proximity Read ↗

Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophySemantic proximity Read ↗

Dystrophin and mutations: one gene, several proteins, multiple phenotypes.Semantic proximity Read ↗

Sequencing protocols to genotype mdx, mdx(4cv), and mdx(5cv) mice.Semantic proximity Read ↗

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse.Semantic proximity Read ↗

RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte Enhancer Factor 2 (Mef2) β-Exon SplicingSemantic proximity Read ↗

Dystrophin gene transcripts skipping the mdx mutation.Semantic proximity Read ↗

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