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Article

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.

European journal of human genetics : EJHG - 1 May 2014

Rousseau Julie, Gioia Roberta, Layrolle Pierre, Lieubeau Blandine, Heymann Dominique, Rossi Antonio, Marini Joan C, Trichet Valerie, Forlino Antonella

Abstract excerpt

Gene silencing approaches have the potential to become a powerful curative tool for a variety of monogenic diseases caused by gain-of-function mutations. Classical osteogenesis imperfecta (OI), a dominantly inherited bone dysplasia, is characterized in its more severe forms by synthesis of structurally abnormal type I collagen, which exerts a negative effect on extracellular matrix. Specific suppression of the...

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

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Identifiers

PMID: 24022296
DOI: 10.1038/ejhg.2013.198
PMCID: PMC3992561

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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.

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