Results 51 to 60 of about 71,442 (257)

The Evolutionarily Conserved TPM1 Super‐Enhancer Drives Skeletal Muscle Regeneration via Mechanotransduction Signaling

open access: yesAdvanced 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

Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging

open access: yesScientific Reports, 2021
Duchenne muscular dystrophy (DMD) is a common and severe X-linked myopathy, characterized by muscle degeneration due to altered or absent dystrophin. DMD has no effective cure, and the underlying molecular mechanisms remain incompletely understood.
I. Dabaj   +14 more
semanticscholar   +1 more source

HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration

open access: yesAdvanced 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

Subjects with hip osteoarthritis show distinctive patterns of trunk movements during gait-a body-fixed-sensor based analysis

open access: yesJournal of NeuroEngineering and Rehabilitation, 2012
Background Compensatory trunk movements during gait, such as a Duchenne limp, are observed frequently in subjects with osteoarthritis of the hip, yet angular trunk movements are seldom included in clinical gait assessments.
Reininga Inge HF   +5 more
doaj   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals 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

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

open access: yesInternational Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy   +4 more
doaj   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

open access: yesAnnals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse   +16 more
wiley   +1 more source

Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients [PDF]

open access: bronze, 2021
Abdallah Fayssoil   +11 more
openalex   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov   +8 more
wiley   +1 more source

Is cardiac autonomic modulation influenced by beta blockers in adolescents with Duchenne Muscular Dystrophy?

open access: yesTranslational Exercise Biomedicine
As the Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disorder frequently associated with cardiac dysfunction, this study aimed to evaluate the influence of beta-blocker therapy on cardiac autonomic modulation in adolescents with DMD by
Silva-Magalhães Talita Dias da   +10 more
doaj   +1 more source

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