snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.

Zheng, Dongxu; Wondergem, Annelot; Kloet, Susan; Willemsen, Iris; Balog, Judit; Tapscott, Stephen J; Mahfouz, Ahmed; van den Heuvel, Anita; van der Maarel, Silvère M

Zheng, Dongxu; Wondergem, Annelot; Kloet, Susan; Willemsen, Iris; Balog, Judit; Tapscott, Stephen J; Mahfouz, Ahmed; van den Heuvel, Anita; van der Maarel, Silvère M.

Afiliação

Zheng D; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.
Wondergem A; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.
Kloet S; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.
Willemsen I; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.
Balog J; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.
Tapscott SJ; Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA 98109, USA.
Mahfouz A; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.
van den Heuvel A; Delft Bioinformatics Lab, Delft University of Technology, Van Mourik Broekmanweg 2628 XE, Delft, The Netherlands.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.

Hum Mol Genet ; 33(3): 284-298, 2024 Jan 20.

Article em En | MEDLINE | ID: mdl-37934801

Assuntos

Distrofia Muscular Facioescapuloumeral; Humanos; Distrofia Muscular Facioescapuloumeral/genética; Distrofia Muscular Facioescapuloumeral/metabolismo; Transcriptoma/genética; Proteínas de Homeodomínio/metabolismo; RNA Nuclear Pequeno/genética; RNA Nuclear Pequeno/metabolismo; Estresse Oxidativo/genética; Apoptose; Músculo Esquelético/metabolismo; Regulação da Expressão Gênica/genética

Palavras-chave

DUX4; FSHD; cellular heterogeneity; muscular dystrophy; single-nucleus RNA-sequencing

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Holanda

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