Yotam Drier
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yotamd.bsky.social
Yotam Drier
@yotamd.bsky.social
Epigenomics and chromosome topology in cancer • Assistant Professor, Faculty of Medicine, Hebrew University of Jerusalem • yotamdrier.ekmd.huji.ac.il
Hi, can you please add me? Thank you, Yotam.
November 24, 2024 at 5:58 AM
Great list! Can you add me too? Thanks.
November 17, 2024 at 9:17 PM
Eden showed how SMCHD1 regulates the splicing of DNMT3B1, and how the promoted isoform changes DNA methylation at the D4Z4 satellite repeat to induce DUX4 expression, explaining how SMCHD1 mutations lead to FSHD. More details at: dx.doi.org/10.1126/scia...

#Epigenetics #Splicing #SMCHD1
DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis
SMCHD1 loss drives FSHD pathogenesis by disrupting DNMT3B splicing, leading to D4Z4 hypomethylation and DUX4 overexpression.
dx.doi.org
November 17, 2024 at 3:45 PM