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Facioscapulohumeral muscular dystrophy: the road to targeted therapies
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
Mobility related physical and functional losses due to aging and disease-a motivation for lower limb exoskeletons
Background Physical and functional losses due to aging and diseases decrease human
mobility, independence, and quality of life. This study is aimed at summarizing and …
mobility, independence, and quality of life. This study is aimed at summarizing and …
Conservation and innovation in the DUX4-family gene network
JL Whiddon, AT Langford, CJ Wong, JW Zhong… - Nature …, 2017 - nature.com
Abstract Facioscapulohumeral dystrophy (FSHD; MIM 158900, MIM 158901) is caused by
misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD …
misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD …
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
Background Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy
caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No …
caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No …
Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways
AM Rickard, LM Petek, DG Miller - Human molecular genetics, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that
results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 …
results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 …
DUX4 role in normal physiology and in FSHD muscular dystrophy
E Mocciaro, V Runfola, P Ghezzi, M Pannese… - Cells, 2021 - mdpi.com
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4)
has gone from being an obscure entity to being a key factor in important physiological and …
has gone from being an obscure entity to being a key factor in important physiological and …
Long-read sequencing for rare human genetic diseases
During the past decade, the search for pathogenic mutations in rare human genetic
diseases has involved huge efforts to sequence coding regions, or the entire genome, using …
diseases has involved huge efforts to sequence coding regions, or the entire genome, using …
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
RJLF Lemmers, JJ Goeman… - Human molecular …, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD: MIM# 158900) is a common myopathy
with marked but largely unexplained clinical inter-and intra-familial variability. It is caused by …
with marked but largely unexplained clinical inter-and intra-familial variability. It is caused by …
[HTML][HTML] Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments
J Hamel, R Tawil - Neurotherapeutics, 2018 - Elsevier
A reliable model of a disease pathomechanism is the first step to develop targeted treatment.
In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular …
In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular …
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD
LH Wang, SD Friedman, D Shaw… - Human Molecular …, 2019 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited
disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor …
disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor …