Detalhe da pesquisa
1.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30698748
2.
One-hour universal protocol for mouse genotyping.
Muscle Nerve
; 61(6): 801-807, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32086834
3.
Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice.
PLoS Genet
; 12(9): e1006289, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27589388
4.
Antisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.
Hum Mol Genet
; 25(8): 1468-78, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26787513
5.
Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy.
Int J Mol Sci
; 19(5)2018 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751519
6.
Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.
Hum Mol Genet
; 23(15): 4125-33, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659496
7.
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Hum Mol Genet
; 23(1): 171-81, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23966205
8.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Med Genet
; 17(1): 66, 2016 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27634379
9.
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
Ann Neurol
; 78(3): 387-400, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018399
10.
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.
Am J Pathol
; 181(4): 1387-401, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22871573
11.
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
J Med Genet
; 48(1): 55-63, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972248
12.
Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.
Front Genome Ed
; 4: 937879, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35910413
13.
Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.
Sci Rep
; 12(1): 3756, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260651
14.
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles.
J Cachexia Sarcopenia Muscle
; 13(2): 1385-1402, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194965
15.
RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy.
J Cachexia Sarcopenia Muscle
; 12(6): 2079-2090, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687171
16.
Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4.
Nucleic Acid Ther
; 31(3): 201-207, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32679000
17.
Therapeutic Strategies Targeting DUX4 in FSHD.
J Clin Med
; 9(9)2020 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906621
18.
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.
J Pers Med
; 10(3)2020 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32731450
19.
Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?
J Pers Med
; 11(1)2020 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33374516
20.
A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy.
Mol Ther Nucleic Acids
; 22: 1191-1199, 2020 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33312755