Results 31 to 40 of about 39,769 (244)
X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy
Pharmaceuticals, 2015 X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj +1 more source
Journal of Patient-Reported Outcomes, 2021 Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams +4 more
doaj +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.This study presents guanidinium‐ and indole‐functionalized polyphosphoesters as degradable, non‐viral gene delivery vectors. Through precise tuning of charge density and hydrophobicity, these polymers form stable polyplexes with low toxicity. Remarkably, minor structural changes yield up to 200‐fold differences in transfection efficiency, highlighting ...
Markus Kötzsche +8 more
wiley +1 more source
RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy
Advanced Science, EarlyView.This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu +12 more
wiley +1 more source
Noninvasive ventilatory support to reverse weight loss in Duchenne muscular dystrophy: A case series
Pulmonology, 2019 This case series of five patients with Duchenne muscular dystrophy demonstrates the nutritional advantages of instituting noninvasive intermittent positive pressure ventilatory support via 15 mm angled mouthpieces to relieve tachypnea and provide more ...
P. Deo, J.R. Bach
doaj +1 more source
Advanced Science, EarlyView.By integrating biomechanical and epigenetic cues, the evolutionarily conserved TPM1 super‐enhancer drives myogenesis via TEAD4‐mediated chromatin looping. This mechanism produces species‐specific outputs (linear TPM1 mRNA in mice and CircTPM1 in bovine) that activate PI3K/AKT mechanotransduction and the MYH10/MYL3 axis to execute cytoskeletal ...
Ruimen Zhang +27 more
wiley +1 more source
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy
Einstein (São Paulo)Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco +3 more
doaj +1 more source
HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration
Advanced Science, EarlyView.This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong +14 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source