Detalhe da pesquisa
1.
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
Hum Mol Genet
; 33(3): 284-298, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934801
2.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
J Med Genet
; 56(12): 828-837, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31676591
3.
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
Commun Biol
; 6(1): 677, 2023 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37380887
4.
A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
Sci Rep
; 11(1): 23642, 2021 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34880314