Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection

Publication date: Available online 26 March 2020Source: Meta GeneAuthor(s): Omid Daneshjoo, Ali hosseini, Masoud Garshasbi, Antonio Pizzuti
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research

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Publication date: August 2020Source: Pharmacological Research, Volume 158Author(s): Brigida Boccanegra, Ingrid E.C. Verhaart, Ornella Cappellari, Elizabeth Vroom, Annamaria De Luca
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
AbstractCardiomyopathy is the leading cause of death in Duchenne muscular dystrophy (DMD). Elevated troponin levels are observed in DMD and may vary with disease progression. We studied troponin levels in DMD related to cardiac fibrosis and native T1 measures. This is a prospective, cross-sectional, observational study of 30 DMD subjects measuring native T1 levels and late gadolinium enhancement (LGE) on cardiac MR imaging (CMR) correlated with temporally associated serum troponin I levels. Non-parametric analyses including Spearman correlations and Kruskal –Wallis test were performed between groups.pvalues resulting...
Source: Mammalian Genome - Category: Genetics & Stem Cells Source Type: research
(UT Southwestern Medical Center) A joint program of UT Southwestern Medical Center and Children's Health has been approved as a Certified Duchenne Care Center (CDCC) by Parent Project Muscular Dystrophy (PPMD), the nation's most comprehensive nonprofit organization focused on finding a cure for Duchenne muscular dystrophy.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Varied detection methods have resulted in conflicting reports on the prevalence of cardiac disease in Duchenne and Becker muscular dystrophy carriers (MDC).
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Interview with Paula R. Clemens, MD, author of Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial
Source: JAMA Specialty Journals Author Interviews - Category: General Medicine Authors: Source Type: podcasts
This phase 2 randomized clinical trial evaluates the safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping
Source: JAMA Neurology - Category: Neurology Source Type: research
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
by Shigefumi Morioka, Hirofumi Sakaguchi, Hiroaki Mohri, Mariko Taniguchi-Ikeda, Motoi Kanagawa, Toshiaki Suzuki, Yuko Miyagoe-Suzuki, Tatsushi Toda, Naoaki Saito, Takehiko Ueyama Hearing loss (HL) is one of the most common sensory impairments and etiologically and genetically heterogeneous disorders in humans. Muscular dystrophies (MDs) are neuromuscular disorders characterized by progressive degeneration of skeletal muscle accompanied by non-muscular symptoms. Aberrant gl ycosylation of α-dystroglycan causes at least eighteen subtypes of MD, now categorized as MD-dystroglycanopathy (MD-DG), with a wide spectrum of...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: Available online 24 May 2020Source: EXPLOREAuthor(s): HongJuan Li, Haoming Huang, Wenjie Long, Junling Zuo, Hongqiang Huang
Source: EXPLORE: The Journal of Science and Healing - Category: Complementary Medicine Source Type: research
In conclusion, our results suggest a previously unknown mechanism whereby the canonical NF-κB cascade and a mitochondrial fission pathway interdependently regulate endothelial inflammation. Lin28 as a Target for Nerve Regeneration https://www.fightaging.org/archives/2020/05/lin28-as-a-target-for-nerve-regeneration/ Researchers here show that the gene Lin28 regulates axon regrowth. In mice, raised levels of Lin28 produce greater regeneration of nerve injuries. Past research has investigated Lin28 from the standpoint of producing a more general improvement in regenerative capacity. It improves mitoch...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
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