DMD Open ‐access Variant Explorer (DOVE): A scalable, open‐access, web‐based tool to aid in clinical interpretation of genetic variants in the DMD gene

ConclusionDOVE may prove useful for variant interpretation both at patient ‐level and in large‐scale programs such as newborn screening and has broad application in concept to molecular genetic test result interpretation.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Authors: Roshmi RR, Yokota T Abstract Duchenne muscular dystrophy is the most common lethal X-linked genetic disorder, characterized by progressive muscle loss, with cardiac and respiratory complications. It is caused by a lack of dystrophin protein due to mutations in the DMD gene, which can disrupt the reading frame of the dystrophin primary transcript. Antisense oligonucleotides such as phosphorodiamidate morpholino oligomers (PMOs) can induce exon skipping during pre-mRNA splicing and restore the reading frame of the DMD primary transcript. The resulting dystrophin protein is internally deleted but partially fu...
Source: Drugs of Today - Category: Drugs & Pharmacology Tags: Drugs Today (Barc) Source Type: research
Authors: Swiderski K, Bindon R, Trieu J, Naim T, Schokman S, Swaminathan M, Leembruggen AJL, Hill-Yardin EL, Koopman R, Bornstein JC, Lynch GS Abstract Background/Aims: Patients with Duchenne muscular dystrophy exhibit significant, ongoing impairments in gastrointestinal (GI) function likely resulting from dysregulated nitric oxide production. Compounds increasing neuronal nitric oxide synthase expression and/or activity could improve GI dysfunction and enhance quality of life for dystrophic patients. We used video imaging and spatiotemporal mapping to identify GI dysfunction in mdx dystrophic mice and determine wh...
Source: Journal of Neurogastroenterology and Motility - Category: Gastroenterology Tags: J Neurogastroenterol Motil Source Type: research
Publication date: 12 November 2019Source: Cell Reports, Volume 29, Issue 7Author(s): Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. TapscottSummaryThe DUX4 transcription factor is briefly expressed in the early cleavage-stage embryo, where it induces an early wave of zygotic gene transcription, whereas its mis-expression in skeletal muscle causes the muscular dystrophy facioscapulohumeral dystrophy (FSHD). Here, we show that DUX4 induces the expression of the histone variants H3.X and H3.Y. We have used a myobl...
Source: Cell Reports - Category: Cytology Source Type: research
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
The US Food and Drug Administration halts a study by Solid Biosciences after a patient experiences severe side effects following treatment.
Source: The Scientist - Category: Science Tags: News & Opinion Source Type: news
Dysferlinopathy is an autosomal recessive muscular dystrophy caused by mutations in the dysferlin gene, which encodes dysferlin [1]. The dysferlin gene is located on chromosome 2p13 and encompasses 55 exons spanning over 150  kb of genomic DNA [1,2].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Duchenne muscular dystrophy (DMD) causes severe disability and death of young men due to progressive muscle degeneration aggravated by sterile inflammation. DMD is also associated with cognitive and bone-function impairments. This complex phenotype results from the cumulative loss of a spectrum of dystrophin isoforms expressed from the largest human gene. Although there is evidence for the loss of shorter isoforms having impact in the central nervous system, their role in muscle is unclear. We found that at eight weeks, the active phase of pathology in dystrophic mice, dystrophin-null mice (mdx βgeo) presented with a ...
Source: American Journal of Pathology - Category: Pathology Authors: Source Type: research
ki DC Abstract Duchenne muscular dystrophy (DMD) causes severe disability and death of young men due to progressive muscle degeneration aggravated by sterile inflammation. DMD is also associated with cognitive and bone-function impairments. This complex phenotype results from the cumulative loss of a spectrum of dystrophin isoforms expressed from the largest human gene. Although there is evidence for the loss of shorter isoforms having impact in the central nervous system, their role in muscle is unclear. We found that at eight weeks, the active phase of pathology in dystrophic mice, dystrophin-null mice (mdx&beta...
Source: The American Journal of Pathology - Category: Pathology Authors: Tags: Am J Pathol Source Type: research
Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Authors: Li BT, Chen JX, Li HA, Huang XY PMID: 31698894 [PubMed - as supplied by publisher]
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
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