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Article

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

Biochimica et biophysica acta - 1 Mar 2006

Botta Annalisa, Caldarola Sara, Vallo Laura, Bonifazi Emanuela, Fruci Doriana, Gullotta Francesca, Massa Roberto, Novelli Giuseppe, Loreni Fabrizio

Abstract excerpt

Myotonic dystrophy is caused by two different mutations: a (CTG)n expansion in 3' UTR region of the DMPK gene (DM1) and a (CCTG)n expansion in intron 1 of the ZNF9 gene (DM2). The most accredited mechanism for DM pathogenesis is an RNA gain-of-function. Other findings suggest a contributory role of DMPK-insufficiency in DM1. To address the issue of ZNF9 role in DM2, we have analyzed the effects of (CCTG)n...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16376058
DOI: 10.1016/j.bbadis.2005.11.004

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).PMID 16376058Read ↗

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