Detalhe da pesquisa
1.
Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.
Hum Mol Genet
; 24(20): 5901-14, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246499
2.
Wnt/ß-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
Hum Mol Genet
; 22(23): 4661-72, 2013 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23821646
3.
Adeno-associated virus vectors integrate at chromosome breakage sites.
Nat Genet
; 36(7): 767-73, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15208627
4.
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Hum Mol Genet
; 18(13): 2414-30, 2009 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19359275
5.
Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of epidermolysis bullosa simplex.
Mol Ther
; 18(9): 1624-32, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20571545
6.
Frequent endonuclease cleavage at off-target locations in vivo.
Mol Ther
; 18(5): 983-6, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20216527
7.
Gene targeting in vivo by adeno-associated virus vectors.
Nat Biotechnol
; 24(8): 1022-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16878127
8.
Human gene targeting by adeno-associated virus vectors is enhanced by DNA double-strand breaks.
Mol Cell Biol
; 23(10): 3550-7, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12724413
9.
A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD).
Neuromuscul Disord
; 26(7): 405-13, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185459
10.
A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles.
Stem Cells Transl Med
; 5(9): 1145-61, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217344
11.
Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.
PLoS One
; 7(4): e35532, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22536400
12.
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Nat Genet
; 44(12): 1370-4, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143600
13.
Large-scale analysis of adeno-associated virus vector integration sites in normal human cells.
J Virol
; 79(17): 11434-42, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16103194