Results 51 to 60 of about 3,790 (193)

Some DUX4-bound repetitive elements are transcriptionally activated by DUX4.

, 2013
(A) ∼1% of DUX4-bound regions show statistically-significant activation in response to DUX4 in our conservative analysis. We show normalized RNA-seq read counts within an arbitrary distance of 1 kb from DUX4-bound regions (peaks), comparing counts ...
Zizhen Yao (48910), Janet M. Young (79201), Linda N. Geng (360242), Rabi Tawil (169550), Jennifer L. Whiddon (488099), Silvère M. van der Maarel (1389870), Lauren Snider (360240), Bhavatharini Kasinathan (488100), Judit Balog (262070), Stephen J. Tapscott (269326)   +9 more
core   +1 more source

High-throughput screening identifies inhibitors of DUX4-induced myoblast toxicity [PDF]

, 2014
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic alterations at the D4Z4 macrosatellite repeat locus on chromosome 4, resulting in inappropriate expression of the DUX4 protein.
Bosnakovski, Darko, Erik A Toso, Toso, Erik, Darko Bosnakovski, Walters, Michael, Kyba, Michael, Strasser, Jessica, Choi, Si Ho, Jessica M Strasser, Michael A Walters, Si Choi, Michael Kyba   +11 more
core   +3 more sources

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Expression of DUX4-fl and DUX4-s and D4Z4 in control and FSHD cells.

, 2013
(A) Diagram of D4Z4 repeat array with two most telomeric full units (large triangles), the last partial repeat, and the adjacent pLAM sequence that contains exon 3.
Angelique M. Nelson (360249), Galina N. Filippova (169552), Linda N. Geng (360242), Carol B. Ware (360247), Daniel G. Miller (169553), Rabi Tawil (169550), Silvère M. van der Maarel (1389870), Lauren Snider (360240), Michael Kyba (121283), Stephen J. Tapscott (269326), Richard J. L. F. Lemmers (360244)   +10 more
core   +1 more source

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. [PDF]

PLoS ONE, 2015
The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD).
Eugénie Ansseau, Jacqueline S Domire, Lindsay M Wallace, Jocelyn O Eidahl, Susan M Guckes, Carlee R Giesige, Nettie K Pyne, Alexandra Belayew, Scott Q Harper   +8 more
doaj   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

Disease Models & Mechanisms, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes, Monique Ramirez, Takako I. Jones, Peter L. Jones   +3 more
doaj   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

The DUX4 model of FSHD.

, 2016
(A) A model of the human system, which represents a summary of published work relevant to understanding FRG1 and DUX4 in relation to FSHD supplied to aid the reader with context, showing the FSHD-associated human chromosome 4q35 D4Z4 macrosatellite in ...
Megan Parilla (2550397), Takako I. Jones (2550391), Peter L. Jones (2550394)   +2 more
core   +1 more source

Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy

Scientific Reports
Facioscapulohumeral muscular dystrophy (FSHD) is a degenerative muscle disease caused by loss of epigenetic silencing and ectopic reactivation of the embryonic double homeobox protein 4 gene (DUX4) in skeletal muscle.
Rajanikanth Vangipurapu, Jonathan Oliva, Amelia Fox, Francis M. Sverdrup   +3 more
doaj   +1 more source