Results 81 to 90 of about 9,445 (236)

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence

Biology Open, 2022
Abnormal expression in skeletal muscle of the double homeobox transcription factor DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). Though multiple changes are known to be initiated by aberrant DUX4 expression, the downstream
Isabel F Masteika, A. Sathya, S. Homma, Bess M. Miller, F. Boyce, J. Miller   +5 more
semanticscholar   +1 more source

Assessment of the Use of Non-Pharmacological Methods for Managing Depression in Patients with Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2018
Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly, Parkhill, Amy L., Roberts, Mackenzie, Skalla, Deidre   +3 more
core   +1 more source

Kognitive Verhaltenstherapie : Ein möglicher Behandlungsansatz des Symptoms Fatigue beim Post-Polio-Syndrom? [PDF]

, 2016
Hintergrund: Das Post-Polio-Syndrom (PPS) ist von geringer Bekanntheit, trotz dessen Aktualität und der beträchtlichen Anzahl Betroffener in der Schweiz. Fatigue gilt für die Mehrheit aller PPS-Erkrankten als die grösste Beeinträchtigung. Studien belegen,
Baur, Debora, Flükiger, Sonja
core   +1 more source

Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

PLoS Genetics, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like ...
Mariaelena Pistoni, Lily Shiue, Melissa S Cline, Sergia Bortolanza, Maria Victoria Neguembor, Alexandros Xynos, Manuel Ares, Davide Gabellini   +7 more
doaj   +1 more source

DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy. [PDF]

PLoS ONE, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35.2 from 11-100 copies to 1-10 copies.
Benjamin D Pope, Koji Tsumagari, Dana Battaglia, Tyrone Ryba, Ichiro Hiratani, Melanie Ehrlich, David M Gilbert   +6 more
doaj   +1 more source

A pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD)

PLoS ONE, 2022
For patients affected by Facioscapulohumeral dystrophy (FSHD), alternate methods for increasing physical activity engagement that may benefit shoulder function and wider health are needed. Arm cycling has been proposed as a potential method for achieving
F. Philp, R. Kulshrestha, N. Emery, M. Arkesteijn, A. Pandyan, T. Willis   +5 more
semanticscholar   +1 more source

Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei

Skeletal Muscle, 2018
Background Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every myonucleus of proliferative cells,
Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée   +9 more
doaj   +1 more source

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis

Science Advances
Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is a noncanonical SMC protein and an epigenetic regulator. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy (FSHD), by overexpressing DUX4 in muscle cells ...
Eden Engal, Aveksha Sharma, Uria Aviel, Nadeen Taqatqa, Sarah Juster, Shiri Jaffe-Herman, Mercedes Bentata, Ophir Geminder, Adi Gershon, Reyut Lewis, Gillian Kay, Merav Hecht, S. Epsztejn-Litman, M. Gotkine, Vincent Mouly, R. Eiges, M. Salton, Y. Drier   +17 more
semanticscholar   +1 more source

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry [PDF]

, 2016
Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies.
Evangelista, T, Fernandez-Torron, R, Guglieri, M, Hilton-Jones, D, Hudson, J, Lochmüller, H, Lunt, P, Norwood, F, Orrell, R, Rafferty, K, Smith, D, Williams, M, Willis, T, Wood, L   +13 more
core   +1 more source