Detalhe da pesquisa
1.
FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.
Hum Mol Genet
; 33(2): 182-197, 2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37856562
2.
The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected.
Int J Mol Sci
; 25(6)2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542301
3.
PAX7 target gene repression associates with FSHD progression and pathology over 1 year.
Hum Mol Genet
; 29(13): 2124-2133, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347924
4.
Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity.
Hum Mol Genet
; 29(16): 2746-2760, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744322
5.
DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation.
Hum Mol Genet
; 29(14): 2285-2299, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242220
6.
PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level.
Hum Mol Genet
; 28(13): 2224-2236, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067297
7.
Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.
Hum Mol Genet
; 28(8): 1244-1259, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30462217
8.
DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis.
J Cell Sci
; 129(20): 3816-3831, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27744317
9.
Corrigendum to: PAX7 target gene repression associates with FSHD progression and pathology over one year.
Hum Mol Genet
; 29(14): 2460, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32515476
10.
Intra-tumour signalling entropy determines clinical outcome in breast and lung cancer.
PLoS Comput Biol
; 11(3): e1004115, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25793737
11.
Charting cellular differentiation trajectories with Ricci flow.
Nat Commun
; 15(1): 2258, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480714
12.
Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies.
iScience
; 27(6): 109947, 2024 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38840844
13.
An in silico FSHD muscle fiber for modeling DUX4 dynamics and predicting the impact of therapy.
Elife
; 122023 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37184373
14.
The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy.
Brain Commun
; 5(5): fcad221, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37731904
15.
Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene.
Skelet Muscle
; 13(1): 21, 2023 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104132
16.
Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target.
Redox Biol
; 51: 102251, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248827
17.
Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.
EMBO Mol Med
; 13(8): e13695, 2021 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34151531
18.
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms.
Neuromuscul Disord
; 30(4): 315-328, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32327287
19.
DEPDC1B is a key regulator of myoblast proliferation in mouse and man.
Cell Prolif
; 53(1): e12717, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31825138
20.
Clinical AI tools must convey predictive uncertainty for each individual patient.
Nat Med
; 29(12): 2996-2998, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821686