Detalhe da pesquisa
1.
Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation.
Proc Natl Acad Sci U S A
; 116(23): 11396-11401, 2019 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31097590
2.
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
Hum Mol Genet
; 27(4): 716-731, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29281018
3.
The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy.
Curr Opin Neurol
; 33(5): 635-640, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32796277
4.
Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse.
Hum Mol Genet
; 25(7): 1357-69, 2016 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26908621
5.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Am J Hum Genet
; 88(6): 796-804, 2011 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21596365
6.
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle.
Skelet Muscle
; 14(1): 3, 2024 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38389096
7.
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
J Med Genet
; 49(1): 41-6, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21984748
8.
Facioscapulohumeral muscular dystrophy: the road to targeted therapies.
Nat Rev Neurol
; 19(2): 91-108, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36627512
9.
USP18 is an essential regulator of muscle cell differentiation and maturation.
Cell Death Dis
; 14(3): 231, 2023 03 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37002195
10.
Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues.
Stem Cell Reports
; 18(10): 1954-1971, 2023 10 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37774701
11.
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Nat Commun
; 14(1): 5466, 2023 09 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37749075
12.
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
PLoS Genet
; 5(7): e1000559, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19593370
13.
Software Tool for Automatic Quantification of Sarcomere Length and Organization in Fixed and Live 2D and 3D Muscle Cell Cultures In Vitro.
Curr Protoc
; 2(7): e462, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35789134
14.
Meeting report: the 2021 FSHD International Research Congress.
Skelet Muscle
; 12(1): 1, 2022 01 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35039091
15.
Systemic delivery of a DUX4-targeting antisense oligonucleotide to treat facioscapulohumeral muscular dystrophy.
Mol Ther Nucleic Acids
; 26: 813-827, 2021 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34729250
16.
Mouse models for muscular dystrophies: an overview.
Dis Model Mech
; 13(2)2020 02 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32224495
17.
Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.
Skelet Muscle
; 10(1): 27, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33004076
18.
Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability.
Sci Rep
; 10(1): 17621, 2020 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-33077830
19.
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
Hum Mutat
; 30(10): 1449-59, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19728363
20.
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
Stem Cell Res
; 40: 101560, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31518905