Article

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

2018-11-15

Abstract excerpt

<h4>Background</h4> All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant myogenic activation of the somatically silent DUX4 gene, which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology. Therefore, FSHD is a dominant gain-of-function disease that is amenable to modeling by DUX4 overexpression. However, there is large variability in the patient popu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9ec2454b-7b3d-54b1-926e-c2db0e6078ca
DOI: 10.1101/471094

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severityDOI 10.1101/471094Read

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.Semantic proximity Read

A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.Semantic proximity Read

Cellular and animal models for facioscapulohumeral muscular dystrophySemantic proximity Read

Transgenic mouse models for investigating human <i>DUX4</i> expression during development and its roles in FSHD pathophysiologySemantic proximity Read

Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).Semantic proximity Read

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model.Semantic proximity Read

Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 ExpressionSemantic proximity Read

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscleSemantic proximity Read

Transcriptional and cytopathological hallmarks of FSHD in chronic DUX4-expressing miceSemantic proximity Read

<i>DUX4</i>, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53‐dependent myopathy in vivoSemantic proximity Read

Facioscapulohumeral Muscular Dystrophy.Semantic proximity Read

Targeted <i>DUX4</i> base editing improves muscle function in an iPSC-derived model of childhood-onset FSHDSemantic proximity Read