Results 71 to 80 of about 275,647 (194)

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: update of the 2012 guidelines

Clinical Genetics
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical ...
E. Giardina, P. Camaño, S. Burton-Jones, G. Ravenscroft, F. Henning, F. Magdinier, N. van der Stoep, P. van der Vliet, Rafaëlle Bernard, P. Tomaselli, M. Davis, Ichizo Nishino, P. Oflazer, Valerie Race, V. Vishnu, Victoria Williams, Cláudia F. R. Sobreira, S. M. van der Maarel, S. Moore, N. Voermans, Richard J. L. F. Lemmers   +20 more
semanticscholar   +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

Facioscapulohumeral Muscular Dystrophy is Associated With Altered Myoblast Proteome Dynamics

bioRxiv, 2022
Proteomic studies in facioscapulohumeral muscular dystrophy (FSHD) could offer new insight to disease mechanisms underpinned by post-transcriptional processes.
Y. Nishimura, A. Bittel, Connor A. Stead, Yi-Wen Chen, Jatin G. Burniston   +4 more
semanticscholar   +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

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

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD ...
S. Arbogast, H. Kotzur, C. Frank, N. Compagnone, T. Sutra, F. Pillard, S. Pietri, Nisrine Hmada, D. Moussa, J. Bride, Sarah Françonnet, J. Mercier, J. Cristol, M. Dabauvalle, D. Laoudj-Chenivesse   +14 more
semanticscholar   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source