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Article

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

Journal of human genetics - 1 Aug 2014

Dwianingsih Ery Kus, Malueka Rusdy Ghazali, Nishida Atsushi, Itoh Kyoko, Lee Tomoko, Yagi Mariko, Iijima Kazumoto, Takeshima Yasuhiro, Matsuo Masafumi

Abstract excerpt

Duchenne muscular dystrophy (DMD), a progressive muscle-wasting disease, is mostly caused by exon deletion mutations in the DMD gene. The reading frame rule explains that out-of-frame deletions lead to muscle dystrophin deficiency in DMD. In outliers to this rule, deletion junction sequences have never previously been explored as splicing modulators. In a Japanese case, we identified a single exon 45 deletion in...

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Share to Dystrophin
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophy, Duchenne

Share to Nucleotide Motifs

Share to Oligonucleotides, Antisense

Share to RNA Precursors

Share to RNA Splicing

Share to Silencer Elements, Transcriptional

Source

Identifiers

PMID: 24871807
DOI: 10.1038/jhg.2014.36

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.PMID 24871807Read ↗

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