Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 GeneticVariation disease BEFREE Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. 31705731 2020
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 GeneticVariation disease BEFREE Mutations in dystrophin are the major cause of muscular dystrophies. 31199961 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 Biomarker disease BEFREE <b>Results:</b> Totally, 62 mutations of <i>DMD</i> were found in 62 probands with DMD/BMD, and two compound heterozygous mutations in <i>LAMA2</i> were identified in two probands with MDC1A (a type of congenital MD), indicating that the diagnostic yield was 91.4% by MLPA plus NGS for MD diagnosis in this cohort. 31404137 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 GeneticVariation disease BEFREE Mutations in the gene encoding for the intracellular protein dystrophin cause severe forms of muscular dystrophy. 30360568 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 Biomarker disease BEFREE Several mutations in the LN domains cause LAMA2-deficient muscular dystrophy and LAMB2-deficient Pierson syndrome. 29408412 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
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
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 GeneticVariation disease BEFREE Interestingly, one of the remaining tumors has a deletion in LAMA2, bringing the number of ONBs with deletions of genes involved in the development of muscular dystrophies to 13 or 93%. 30575736 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 Biomarker disease BEFREE Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin. 29766020 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 Biomarker disease BEFREE Histopathological, immunohistochemical and immunoblotting analyses of muscle biopsies were consistent with dystrophin-deficient muscular dystrophy. 29474464 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 Biomarker disease BEFREE With the exception of DMD, there is a paucity of data regarding bone health in muscular dystrophies. 30080716 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 Biomarker disease BEFREE In this study, we applied next-generation sequencing-based copy number variation profiling in 114 individuals clinically diagnosed with laminin α2-related muscular dystrophy, including 96 who harboured LAMA2 mutations and 34 who harboured intragenic rearrangements. 30301903 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 GeneticVariation disease BEFREE Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. 28903883 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 Biomarker disease BEFREE Muscular dystrophies, including laminin α2 chain-deficient muscular dystrophy (LAMA2-CMD), are associated with immense personal, social and economic burdens. 29544677 2018
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
0.500 GeneticVariation disease BEFREE Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. 30220444 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.500 GeneticVariation disease BEFREE In this review, we summarize the clinical features of two of the most common congenital muscular dystrophies, COL6-related dystrophies and LAMA2-related dystrophies, which are caused by mutations in muscle ECM and basement membrane proteins. 29933045 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 GeneticVariation disease BEFREE Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 27750387 2017
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 AlteredExpression disease BEFREE Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy. 29187645 2017
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.500 GeneticVariation disease BEFREE Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy. 28495050 2017