Results 1 to 10 of about 157,487 (143)

Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatment [PDF]

Cell Death and Disease
Fibroadipogenic precursor cells (FAPs) are key contributors to the fibrotic and adipogenic remodeling observed in Duchenne muscular dystrophy (DMD), yet their precise role in muscle degeneration remains unclear.
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Panogiotis Katsikis, Priyanka Mehra, Andrew Galloway, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón-Azcón, Juan M. Fernández-Costa, Jordi Díaz-Manera   +12 more
doaj   +2 more sources

Correction: Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy [PDF]

Cell Death and Disease
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón Azcón, Juan M. Fernández-Costa, Jordi Diaz-Manera   +9 more
doaj   +2 more sources

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +20 more sources

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications Biology, 2022
A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves-Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura N. Rabichow, Stanley F. Nelson, M. Carrie Miceli   +12 more
doaj   +1 more source

Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo

Journal of Nanobiotechnology, 2020
Background The polymer-based drug/gene delivery is promising for the treatment of inherent or acquire disease, because of the polymer’s structural flexibility, larger capacity for therapeutic agent, low host immunogenicity and less cost.
Mingxing Wang, Bo Wu, Jason D. Tucker, Sapana N. Shah, Peijuan Lu, Qilong Lu   +5 more
doaj   +1 more source

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Cell Death and Disease, 2023
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera   +21 more
doaj   +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, Valeria Runfola, Paola Ghezzi, Maria Pannese, Davide Gabellini   +4 more
doaj   +1 more source

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]

, 2011
The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P., Miró Martínez, Jordi, Nieto Luna, Rubén, Raichle, Katherine A.   +3 more
core   +1 more source

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

Orphanet Journal of Rare Diseases, 2019
Background Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their ...
Brian Denger, Kathi Kinnett, Ann Martin, Sean Grant, Courtney Armstrong, Dmitry Khodyakov   +5 more
doaj   +1 more source