Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8–100 units. The D4Z4 repeat has heterochromatic features and does not express DUX4 in somatic cells. Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partia...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: de Greef, Jessica C, Krom, Yvonne D, den Hamer, Bianca, Snider, Lauren, Hiramuki, Yosuke, van den Akker, Rob F P, Breslin, Kelsey, Pakusch, Miha, Salvatori, Daniela C F, Slütter, Bram, Tawil, Rabi, Blewitt, Marnie E, Tapscott, Stephen J, van der Maarel, Silvère M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886298/
https://ncbi.nlm.nih.gov/pubmed/29281018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx437
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