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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書誌詳細
出版年:Hum Mol Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2018
主題:
Articles
オンライン･アクセス: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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