Results 31 to 40 of about 130,419 (249)
Molecular Therapy: Methods & Clinical Development, 2020 Delivery of therapeutic transgenes with adeno-associated viral (AAV) vectors for treatment of myopathies has yielded encouraging results in animal models and early clinical studies.
Jennifer B. Kwon +7 more
doaj +1 more source
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
PLoS ONE, 2020 A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used the DMD gene as an ideal model.
A. Torella +9 more
semanticscholar +1 more source
RNA Biology, 2023 Mutations in the DMD gene are causative for Duchenne muscular dystrophy (DMD). Antisense oligonucleotide (AON) mediated exon skipping to restore disrupted dystrophin reading frame is a therapeutic approach that allows production of a shorter but ...
Remko Goossens +4 more
doaj +1 more source
Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O +9 more
core +2 more sources
Neuromuscular Disorders, 2017 Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy.
Cardas, R +10 more
openaire +4 more sources
Premature termination codons in the DMD gene cause reduced local mRNA synthesis
Proceedings of the National Academy of Sciences of the United States of America, 2020 Significance Duchenne muscular dystrophy is a rare disease caused by lack of dystrophin due to mutations in the DMD gene. The presence of mutations leads to a reduction of the transcript levels. In this study, we show that the transcript reduction is not
R. García-Rodríguez +7 more
semanticscholar +1 more source
Application of digital micromirror devices (DMD) in biomedical instruments
Journal of Innovative Optical Health Sciences, 2020 There is an ongoing technological revolution in the field of biomedical instruments. Consequently, high performance healthcare devices have led to remarkable economic developments in the medical hardware industry.
Ziyun Zhuang, Ho Pui Ho
doaj +1 more source
Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]
, 2015 Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia +10 more
core +2 more sources
Applications of DMDs for astrophysical research [PDF]
SPIE Proceedings, 2009 A long-standing problem of astrophysical research is how to simultaneously obtain spectra of thousands of sources randomly positioned in the field of view of a telescope. Digital Micromirror Devices, used as optical switches, provide a most powerful solution allowing to design a new generation of instruments with unprecedented capabilities.
Robberto M. +4 more
openaire +5 more sources
Human Genetics, 2020 Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation.
M. Okubo +6 more
semanticscholar +1 more source