Detalhe da pesquisa
1.
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Hum Mol Genet
; 33(8): 698-708, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268317
2.
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
Hum Mol Genet
; 28(3): 476-486, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30312408
3.
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
Hum Mol Genet
; 27(4): 716-731, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29281018
4.
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.
Hum Mol Genet
; 25(20): 4419-4431, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28171552
5.
DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
Hum Mol Genet
; 24(17): 4817-28, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041815
6.
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
Hum Mol Genet
; 23(20): 5342-52, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24861551
7.
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.
PLoS Genet
; 9(11): e1003947, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24278031
8.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
PLoS Genet
; 9(4): e1003415, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23593020
9.
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.
PLoS Genet
; 6(10): e1001181, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060811
10.
Breast Cancer Screening in High-risk Women During Pregnancy and Lactation.
J Breast Imaging
; 5(5): 508-519, 2023 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38416921
11.
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design.
bioRxiv
; 2023 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865168
12.
Computed Tomography Assessment of Gastric Band Slippage.
Visc Med
; 38(4): 288-294, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36160820
13.
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
14.
XIC is required for Siamois activity and dorsoanterior development.
Mol Cell Biol
; 25(12): 5061-72, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15923623
15.
Alfalfa-derived HSP70 administered intranasally improves insulin sensitivity in mice.
Cell Stress Chaperones
; 23(2): 189-194, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28822083
16.
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Eur J Hum Genet
; 26(1): 94-106, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162933
17.
BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.
Skelet Muscle
; 7(1): 16, 2017 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28870238
18.
Virtual unenhanced imaging of the liver with third-generation dual-source dual-energy CT and advanced modeled iterative reconstruction.
Eur J Radiol
; 85(7): 1257-64, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27235872
19.
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
Elife
; 42015 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564732
20.
Inhibition of CD26/DPP-IV enhances donor muscle cell engraftment and stimulates sustained donor cell proliferation.
Skelet Muscle
; 2(1): 4, 2012 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22340947