Results 71 to 80 of about 9,445 (236)

AI driven analysis of MRI to measure health and disease progression in FSHD

Scientific Reports
Facioscapulohumeral muscular dystrophy (FSHD) affects roughly 1 in 7500 individuals. While at the population level there is a general pattern of affected muscles, there is substantial heterogeneity in muscle expression across- and within-patients.
Lara I. Riem, Olivia DuCharme, Matthew Cousins, Xue Feng, Allison Kenney, Jacob Morris, Stephen J. Tapscott, R. Tawil, Jeff Statland, Dennis W. W. Shaw, Leo H. Wang, Michael Walker, L. Lewis, Michael A Jacobs, Doris G. Leung, Seth D. Friedman, Silvia S. Blemker   +16 more
semanticscholar   +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   +3 more sources

Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome

Communications Biology
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common autosomal dominant muscle disorders, yet no cure or amelioration exists. The clinical presentation is diverse, making it difficult to identify the actual driving pathomechanism among
Teresa Schätzl, V. Todorow, Lars Kaiser, Helga Weinschrott, B. Schoser, H-P Deigner, P. Meinke, Matthias Kohl   +7 more
semanticscholar   +1 more source

Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 Expression

Biomedicines, 2022
Silencing the expression of the double homeobox 4 (DUX4) gene offers great potential for the treatment of facioscapulohumeral muscular dystrophy (FSHD). Several research groups have recently reported promising results using systemic antisense therapy in ...
Ngoc B Lu-Nguyen, G. Dickson, A. Malerba, L. Popplewell   +3 more
semanticscholar   +1 more source

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). [PDF]

PLoS Genetics, 2009
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 ...
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori   +17 more
doaj   +1 more source

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Clinical Epigenetics
Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35).
C. Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, L. Colantoni, G. Tasca, Mauro Monforte, S. Zampatti, G. Primiano, C. Sancricca, S. Bortolani, Eleonora Torchia, Beatrice Ravera, F. Torri, Giulio Gadaleta, B. Risi, F. Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, E. Frezza, Roberto Massa, Carlo Caltagirone, E. Pennisi, A. Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, M. Scutifero, Paola Mandich, M. Grandis, M. Maioli, C. Casali, Elisabetta Manfroi, L. Politano, L. Passamano, Roberta Petillo, C. Rodolico, A. Pugliese, S. Previtali, Valeria Sansone, L. Vercelli, T. Mongini, Giulia Ricci, G. Siciliano, M. Filosto, Enzo Ricci, R. Cascella, E. Giardina   +50 more
semanticscholar   +1 more source

DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy

Cells, 2021
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4) has gone from being an obscure entity to being a key factor in important physiological and pathological processes.
Emanuele Mocciaro, V. Runfola, Paola Ghezzi, M. Pannese, D. Gabellini   +4 more
semanticscholar   +1 more source

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. [PDF]

, 2015
BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35.
Arne-Bes, M.C., Attarian, S., Bartoli, M., Bernard, R., Bouhour, F., Charles, E., Desnuelle, C., Echaniz-Laguna, A., Ferrer, X., Jouve, E., Kuntzer, T., Levy, N., Magdinier, F., Nadaj-Pakleza, A., Nguyen, K., Niederhauser, J., Ollagnon, E., Pouget, J., Sacconi, S., Salort-Campana, E., Solé, G., Tranchant, C., Vial, C.   +22 more
core   +3 more sources

Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

eLife, 2016
Facioscapulohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis and is pro-apoptotic. To identify target genes, we over-expressed DUX4 in myoblasts and found that the receptor tyrosine kinase Ret was ...
Louise A Moyle, Eric Blanc, Oihane Jaka, Johanna Prueller, Christopher RS Banerji, Francesco Saverio Tedesco, Stephen DR Harridge, Robert D Knight, Peter S Zammit   +8 more
doaj   +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