Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Absent or truncated dystrophin in Duchenne (DMD) and Becker (BMD) muscular dystrophies results in impaired vasodilatory pathways and exercise induced muscle ischemia.
|
31751835 |
2020 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Heart failure invariably affects patients with various forms of Muscular Dystrophy (MD), but the onset and molecular sequelae of altered structure and function resulting from full-length dystrophin (Dp427) deficiency in MD heart tissue are poorly understood.To better understand the role of dystrophin in cardiomyocyte development and the earliest phase of DMD cardiomyopathy, we studied human cardiomyocytes differentiated from induced pluripotent stem cells (hiPSC-CMs) obtained from the urine of a Deuchenne Muscular Dystrophy (DMD) patient.
|
31049579 |
2020 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
|
31705731 |
2020 |
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In particular, recent gene editing methods that led to the restoration of dystrophin expression in a canine model of muscular dystrophy could be applied to other canine models such as this before translation to humans.
|
31772832 |
2019 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
This contribution to the understanding of the structure-function relationship of dystrophin, and especially of the R1-R3 fragment frequently used in the design of protein for gene therapies, should help in the improvement of the strategies for the cure of muscular dystrophies.
|
30468271 |
2019 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dystrophin are the major cause of muscular dystrophies.
|
31199961 |
2019 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) result in progressive weakness of skeletal and cardiac muscles due to the deficiency of functional dystrophin.
|
31817415 |
2019 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we show that µUtro is a highly functional, non-immunogenic substitute for dystrophin, preventing the most deleterious histological and physiological aspects of muscular dystrophy in small and large animal models.
|
31591596 |
2019 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
|
29847600 |
2018 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding for the intracellular protein dystrophin cause severe forms of muscular dystrophy.
|
30360568 |
2018 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
This technology has been tested in paralysed patients, such as those with cervical spinal cord injuries or amyotrophic lateral sclerosis, but it has not been tested systematically in Duchenne muscular dystrophy (DMD), which is a severe type of muscular dystrophy due to the loss of dystrophin and is often accompanied by progressive muscle weakness and wasting.
|
29379140 |
2018 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Histopathological, immunohistochemical and immunoblotting analyses of muscle biopsies were consistent with dystrophin-deficient muscular dystrophy.
|
29474464 |
2018 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
With the exception of DMD, there is a paucity of data regarding bone health in muscular dystrophies.
|
30080716 |
2018 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation.
|
28903883 |
2018 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
|
27750387 |
2017 |
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy.
|
29187645 |
2017 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
|
28495050 |
2017 |
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene.
|
27593222 |
2017 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here we conferred fusogenic activity without transdifferentiation to multiple non-muscle cell types and tested dystrophin restoration in mouse models of muscular dystrophy.
|
27825107 |
2017 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD).
|
29078808 |
2017 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
The IL-1β/Jagged1 pathway may be a new therapeutic target to ameliorate exacerbation of muscular dystrophy in a dystrophin-independent manner.
|
29194448 |
2017 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A <i>De novo</i> Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.
|
28937030 |
2017 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We will also cover its use in iPSC for research and possible therapeutic purposes; and we will review its use in muscular dystrophy studies where considerable progress has been made toward dystrophin correction in mice.
|
28254804 |
2017 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding the dystrophin-associated glycoprotein complex (DGC) can cause muscular dystrophy and disturb synaptic transmission in the photoreceptor ribbon synapse.
|
28744553 |
2017 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The hereditary cardiomyopathic hamster of the UM-X7.1 strain is a particular experimental model of heart failure (HF) leading to early death in muscular dystrophy (dystrophin deficiency and sarcoglycan mutation) and heart disease (δ-sarcoglycan deficiency and dystrophin mutation) in human DMD.
|
28727929 |
2017 |