Results 41 to 50 of about 275,647 (194)

Orofacial Manifestations Associated with Muscular Dystrophies: A Review

Turkish Journal of Orthodontics, 2022
The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou, Kyriaki Kekou, Fulya Özdemir   +2 more
doaj   +1 more source

p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

Nature Genetics, 2021
In mammalian embryos, proper zygotic genome activation (ZGA) underlies totipotent development. Double homeobox (DUX)-family factors participate in ZGA, and mouse Dux is required for forming cultured two-cell (2C)-like cells.
Edward J. Grow, Bradley D. Weaver, Christina M. Smith, Jingtao Guo, P. Stein, Sean C. Shadle, P. Hendrickson, N. Johnson, R. Butterfield, R. Menafra, S. Kloet, S. M. van der Maarel, Carmen J. Williams, B. Cairns   +13 more
semanticscholar   +1 more source

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 ...
P. Heher, M. Ganassi, A. Weidinger, Elise N. Engquist, J. Pruller, T. Nguyen, A. Tassin, Anne-Émilie Declèves, K. Mamchaoui, Christopher R. S. Banerji, J. Grillari, A. Kozlov, P. Zammit   +12 more
semanticscholar   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
core   +1 more source

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA

Cell Reports, 2018
Summary: Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and ...
John K. Lee, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara   +9 more
doaj   +1 more source

Early onset facioscapulohumeral muscular dystrophy [PDF]

Muscle & Nerve, 1995
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD.
Brouwer, O.F., Padberg, G.W.A.M., Bakker, E., Wijmenga, C., Frants, R.R.   +4 more
openaire   +6 more sources

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy

Nutrients, 2023
In patients with facioscapulohumeral muscular dystrophy (FSHD), a rare genetic neuromuscular disease, reduced physical performance is associated with lower blood levels of vitamin C, zinc, selenium, and increased oxidative stress markers. Supplementation
Sedda Amzali, V. D. Wilson, S. Bommart, M. Picot, S. Galas, J. Mercier, P. Poucheret, J. Cristol, S. Arbogast, D. Laoudj-Chenivesse   +9 more
semanticscholar   +1 more source

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der, Frants, R.R., Padberg, G.W.A.M.   +2 more
openaire   +3 more sources

Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment

Neurologijos seminarai, 2023
Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
doaj   +3 more sources