DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. 31705731 2020
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Mutations in dystrophin are the major cause of muscular dystrophies. 31199961 2019
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 Biomarker disease BEFREE Histopathological, immunohistochemical and immunoblotting analyses of muscle biopsies were consistent with dystrophin-deficient muscular dystrophy. 29474464 2018
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 27750387 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 AlteredExpression disease BEFREE Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy. 29187645 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy. 28495050 2017
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.500 GeneticVariation disease BEFREE A <i>De novo</i> Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient. 28937030 2017
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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
CUI: C0026850
Disease: Muscular Dystrophy
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