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DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy

Abstract Double Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common hereditary muscle wasting condition,...

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Autores principales: Alexandra Belayew, Alberto L. Rosa, Peter S. Zammit
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2025-08-01
Colección:Skeletal Muscle
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Acceso en línea:https://doi.org/10.1186/s13395-025-00388-0
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