Results 31 to 40 of about 57,206 (164)

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

Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy

Frontiers in Genome Editing, 2022
Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The
Virginie Mariot, Julie Dumonceaux
doaj   +1 more source

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

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist.
Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba   +7 more
doaj   +1 more source

Distrofias musculares en el paciente adulto

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD, Jorge A. Bevilacqua, MD, PhD   +1 more
doaj   +1 more source

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

The effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks [PDF]

, 2022
This study's objective is to understand the effect of muscular weakness in persons with facioscapulohumeral dystrophy as well as the effect of a dynamic arm support on muscle coordination and activity performance, during activities of daily living ...
Murgia, A; id_orcid, Essers, J M N, Murgia, A, Meijer, K; id_orcid, Meijer, K, Peters, A A   +5 more
core   +1 more source

Ultrafast Micrometric Laser Structuring of Polymer Surfaces for Highly Organized Skeletal Muscle Tissue Modeling

Advanced Science, EarlyView.
Standard cell culture supports were functionalized by laser‐structuring to generate advanced topographies tailored to skeletal muscle tissue. The physicochemical modifications of the polymeric surfaces and their interactions with cells were thoroughly investigated, confirming both safety and effectiveness in guiding muscle cell organization.
Lucas Duvert, Lorena Garcia‐Castillo, Clarissa Murru, Adrien Casanova, Daniel Ferry, Pierre Perrin, Solene Coste, Anne Bigot, Anne‐Patricia Alloncle, Frederique Magdinier, Stefano Testa   +10 more
wiley   +1 more source

Respiratory function in facioscapulohumeral muscular dystrophy 1

, 2017
To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying ...
Hendriks, J.C.M., E.L. van der Kooi, G.W. Padberg, Heijdra, Y.F., Y.F. Heijdra, B.G.M. van Engelen, Padberg, G.W.A.M., Padberg, G.W., C.G.C. Horlings, H.J. Gilhuis, Kooi, E.L. van der, Wohlgemuth, M., Maarel, S.M. van der, Engelen, B.G.M. van, Gilhuis, H.J., Horlings, G.C., M. Wohlgemuth, Horlings, C.G.C., J.C.M. Hendriks, S.M. van der Maarel   +19 more
core   +1 more source