Results 61 to 70 of about 55,263 (257)

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy‐Affected Skeletal Muscles

Stem Cells Translational Medicine, 2016
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease.
Leslie Caron, Devaki Kher, Kian Leong Lee, Robert McKernan, Biljana Dumevska, Alejandro Hidalgo, Jia Li, Henry Yang, Heather Main, Giulia Ferri, Lisa M. Petek, Lorenz Poellinger, Daniel G. Miller, Davide Gabellini, Uli Schmidt   +14 more
doaj   +1 more source

FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]

, 2013
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S, Caccia R, CORONA, Davide, Gabellini D., Godio C, Neguembor MV, Onorati MC, Pistoni M, Schotta G, Xynos A   +9 more
core   +1 more source

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

Neurology, 2020
Objective Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder predominantly characterized by progressive facial and scapular muscle weakness.
K. Hamanaka, D. Šikrová, S. Mitsuhashi, H. Masuda, Y. Sekiguchi, A. Sugiyama, K. Shibuya, R. Lemmers, R. Goossens, M. Ogawa, Koji Nagao, C. Obuse, S. Noguchi, Y. Hayashi, S. Kuwabara, J. Balog, I. Nishino, S. M. van der Maarel   +17 more
semanticscholar   +1 more source

Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy

Frontiers in Cell and Developmental Biology, 2022
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
M. Ganassi, N. Figeac, Magalie Reynaud, H. P. Ortuste Quiroga, P. Zammit   +4 more
semanticscholar   +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.
Chen, Jennifer C. J., Emerson, Charles P., King, Oliver D., Rahimov, Fedik, Robin, Jerome D., Shay, Jerry W., Stadler, Guido, Wagner, Kathryn R., Wright, Woodring E.   +8 more
core   +1 more source

Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy

Medicine & Science in Sports & Exercise, 2022
Purpose Determine 1) if adults with facioscapulohumeral muscular dystrophy (FSHD) exhibit exercise intolerance and 2) potential contributing mechanisms to exercise intolerance, specific to FSHD. Methods Eleven people with FSHD (47 ± 13 yr, 4 females) and
Kathryn Vera, M. McConville, Aline Glazos, William Stokes, M. Kyba, Manda L. Keller‐Ross   +5 more
semanticscholar   +1 more source

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report [PDF]

, 2016
International audienceBackground: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2).
Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Campana Salort, Emmanuelle, Chaix, Charlene, Dion, Camille, Dumonceaux, Julie, Gaillard, Marie-Cécile, Lévy, Nicolas, Magdinier, Frédérique, Mariot, Virginie, Mazaleyrat, Kilian, Nguyen, Karine, Puppo, Francesca, Roche, Stéphane, Tasmadjian, Armand, Vovan, Catherine   +16 more
core   +3 more sources

Genetics of Facioscapulohumeral Dystrophy

Pediatric Neurology Briefs, 1996
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine ...
J Gordon Millichap
doaj   +1 more source

Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy [PDF]

, 2016
Background: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only.
Antoine, Jean-Christophe, Bachasson, Damien, Bankolé, Landry-Cyrille, Féasson, Léonard, Kadi, Fawzi, Millet, Guillaume, Ponsot, Elodie, Ravelojaona, Marion, Temesi, John, Verges, Samuel, Wuyam, Bernard   +10 more
core   +4 more sources

PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a myopathy linked to ectopic expression of the DUX4 transcription factor. The authors show that the suppression of targets genes of the myogenesis regulator PAX7 is a signature of FSHD, and might explain ...
Christopher R. S. Banerji, Maryna Panamarova, Husam Hebaishi, Robert B. White, Frédéric Relaix, Simone Severini, Peter S. Zammit   +6 more
doaj   +1 more source