Results 1 to 10 of about 306,770 (339)

Myotonic dystrophy

Rinsho Shinkeigaku, 2013
No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia.
Shoichi Ishiura, Kosuke Oana, Michinori Koebis   +2 more
openalex   +4 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   +22 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

Facioscapulohumeral Dystrophy [PDF]

Physical Therapy, 2008
Facioscapulohumeral dystrophy (FSHD) is the third most common inherited muscular dystrophy after Duchenne dystrophy and myotonic dystrophy. Over the last decade, major advances have occurred in the understanding of the genetics of this disorder. Despite these advances, the exact mechanisms that lead to atrophy and weakness secondary to the genetic ...
Shree, Pandya, Wendy M, King, Rabi, Tawil   +2 more
openaire   +2 more sources

Reduced Sarcolemmal Membrane Repair Exacerbates Striated Muscle Pathology in a Mouse Model of Duchenne Muscular Dystrophy

Cells, 2022
Duchenne muscular dystrophy (DMD) is a common X-linked degenerative muscle disorder that involves mutations in the DMD gene that frequently reduce the expression of the dystrophin protein, compromising the structural integrity of the sarcolemmal membrane
Brian J. Paleo, Kevin E. McElhanon, Hannah R. Bulgart, Kassidy K. Banford, Eric X Beck, Kristina M. Sattler, Briana N. Goines, Shelby L. Ratcliff, Kelly E. Crowe, Noah Weisleder   +9 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

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

Molecular Genetics & Genomic Medicine, 2021
Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin
Arun Shastry, Sankaramoorthy Aravind, Meeta Sunil, Keerthi Ramesh, Berty Ashley, Nithyanandan T., Vedam L. Ramprasad, Ravi Gupta, Somasekar Seshagiri, Upendra Nongthomba, Sameer Phalke   +10 more
doaj   +1 more source

Effect of different doses of paricalcitol on the expression of vitamin D receptors in mice liver tissue

Разработка и регистрация лекарственных средств, 2023
Introduction. The high doses of vitamin D lead to undesirable side effects such as hypercalcemia. Paricalcitol (PC) is a biologically active synthetic substance that selectively binds to intracellular vitamin D receptors and does not cause hypercalcemia.
T. P. Sataieva, V. Yu. Malygina, A. A. Davydova, M. A. Kriventsov, A. K. Gurtovaya   +4 more
doaj   +1 more source

Structure of comorbidity in ascending aortic aneurysm

Российский кардиологический журнал, 2023
Aim. To analyze the comorbidity structure in patients with ascending thoracic aortic aneurysm (TAA) in the Siberian Federal District (SFD).Material and methods.
I. A. Goncharova, D. S. Panfilov, S. A. Belyaeva, B. N. Kozlov, M. S. Nazarenko   +4 more
doaj   +1 more source

The Interplay of Mitophagy and Inflammation in Duchenne Muscular Dystrophy

Life, 2021
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a pathogenic disruption of the DYSTROPHIN gene that results in non-functional dystrophin protein.
Andrea L. Reid, Matthew S. Alexander
doaj   +1 more source