Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees

Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder. Previous attempts to use gene expression changes to find its pathomechanism were unavailing, so we engaged a functional pathway analysis. RNA-Seq was performed on cells from 10 patients diagnosed with an EDMD...

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Detalles Bibliográficos
Autores principales: de las Heras, Jose I, Todorow, Vanessa, Krečinić-Balić, Lejla, Hintze, Stefan, Czapiewski, Rafal, Webb, Shaun, Schoser, Benedikt, Meinke, Peter, Schirmer, Eric C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991002/
https://www.ncbi.nlm.nih.gov/pubmed/36282542
http://dx.doi.org/10.1093/hmg/ddac264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991002/
https://www.ncbi.nlm.nih.gov/pubmed/36282542
http://dx.doi.org/10.1093/hmg/ddac264

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