Results 21 to 30 of about 5,789 (161)

Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor DUX4, which is linked to oxidative stress, a condition especially detrimental ...
Philipp Heher, Massimo Ganassi, Adelheid Weidinger, Elise N. Engquist, Johanna Pruller, Thuy Hang Nguyen, Alexandra Tassin, Anne-Emilie Declèves, Kamel Mamchaoui, Christopher R.S. Banerji, Johannes Grillari, Andrey V. Kozlov, Peter S. Zammit   +12 more
doaj   +1 more source

FSHD myotubes with different phenotypes exhibit distinct proteomes. [PDF]

PLoS ONE, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder linked to a contraction of the D4Z4 repeat array in the 4q35 subtelomeric region.
Alexandra Tassin, Baptiste Leroy, Dalila Laoudj-Chenivesse, Armelle Wauters, Céline Vanderplanck, Marie-Catherine Le Bihan, Frédérique Coppée, Ruddy Wattiez, Alexandra Belayew   +8 more
doaj   +1 more source

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

Scientific Reports, 2022
With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important.
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San León Granado, Arend Heerschap, Benno Küsters, Stephen J. Tapscott, Nicol C. Voermans, Baziel G. M. van Engelen, Silvère M. van der Maarel   +10 more
doaj   +1 more source

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD ...
Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse   +14 more
doaj   +1 more source

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. FSHD is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite at chromosome 4q35.
Christopher R S Banerji, Peter S Zammit
doaj   +1 more source

Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
Loonen TGJ, Ten Harkel TC, Vincenten SCC, Horlings CGC, Beurskens CHG, Knuijt S, Padberg GWAM, van Engelen BGM, Maal TJJ, Mul K.   +9 more
europepmc   +2 more sources

Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD) [PDF]

, 2017
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs.
Vanderplanck, Celine, Harper, Scott Q, Wauters, Armelle, Ansseau, Eugenie, Belayew, Alexandra, Coppee, Frederique   +5 more
core   +1 more source

Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

JMIR Formative Research, 2023
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disease. Its slow and variable progression makes the development of new treatments highly dependent on validated biomarkers that can quantify ...
Ahnjili Zhuparris, Ghobad Maleki, Ingrid Koopmans, Robert J Doll, Nicoline Voet, Wessel Kraaij, Adam Cohen, Emilie van Brummelen, Joris H De Maeyer, Geert Jan Groeneveld   +9 more
doaj   +1 more source

Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2014
Telomeres may regulate human disease by at least two independent mechanisms. 1) Replicative senescence occurs once short telomeres generate DNA damage signals that produce a barrier to tumor progression.
Shay, Jerry W., Rahimov, Fedik, King, Oliver D., Emerson, Charles P. Jr., Chen, Jennifer C. J., Wagner, Kathryn R., Stadler, Guido, Wright, Woodring E., Robin, Jerome D., Emerson, Charles P.   +9 more
core   +2 more sources

The ratios of estradiol and progesterone to testosterone influence the severity of facioscapulohumeral muscular dystrophy

Neurological Sciences and Neurophysiology, 2020
Background: Facioscapulohumeral muscular dystrophy (FSHD) occurs as a consequence of genetic deletion of D4Z4 repeats on chromosome 4q35. Onset of FSHD is earlier in males, suggesting that testosterone may trigger the disease.
Ceren Hangul, Selen Bozkurt, Ugur Bilge, Sebahat Ozdem, Hasan Altunbas, Hilmi Uysal, Filiz Koc, Sibel Berker Karauzum   +7 more
doaj   +1 more source