Results 91 to 100 of about 898,304 (304)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy

open access: yesSkeletal Muscle
Double Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common
Alexandra Belayew   +2 more
doaj   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers   +7 more
wiley   +1 more source

TET exhibits enzymatic-independent and-dependent functions during Drosophila flight muscle development and aging

open access: yesSkeletal Muscle
Background Enzymes of the Ten-Eleven Translocation family are responsible for 5-methylcytosine (5mC) oxidation and play a key role in regulating DNA demethylation during various developmental processes, including myogenesis.
Vincent Gerdy   +6 more
doaj   +1 more source

PPARδ regulates satellite cell proliferation and skeletal muscle regeneration

open access: yesSkeletal Muscle, 2011
Peroxisome proliferator-activated receptors (PPARs) are a class of nuclear receptors that play important roles in development and energy metabolism. Whereas PPARδ has been shown to regulate mitochondrial biosynthesis and slow-muscle fiber types, its ...
Angione Alison R   +4 more
doaj   +1 more source

Development of a Novel Device for the Perfusion Driven Decellularization of Skeletal Muscle [PDF]

open access: yes, 2014
Decellularization of skeletal muscle is a process that removes cellular components of skeletal muscle tissue while leaving behind the intact extracellular matrix (ECM).
Kasukonis, Benjamin
core   +2 more sources

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

open access: yesArthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino   +9 more
wiley   +1 more source

GsMTx4-blocked PIEZO1 channel promotes myogenic differentiation and alleviates myofiber damage in Duchenne muscular dystrophy

open access: yesSkeletal Muscle
Background Duchenne muscular dystrophy (DMD) is a debilitating disease characterized by progressive muscle-wasting and a lack of effective therapy. Although the application of GsMTx4 has been shown to reduce muscle mass loss in dystrophic mice, the ...
Wengang Wang   +5 more
doaj   +1 more source

Decellularized diaphragmatic muscle drives a constructive angiogenic response in vivo [PDF]

open access: yes, 2018
Skeletal muscle tissue engineering (TE) aims to efficiently repair large congenital and acquired defects. Biological acellular scaffolds are considered a good tool for TE, as decellularization allows structural preservation of tissue extracellular matrix
Alvar\ue8z Fallas, Mario   +11 more
core   +4 more sources

Pain and Patient‐Reported Physical Function Did Not Differ Among Body Composition Profiles in Patients With Hip Osteoarthritis

open access: yesArthritis Care &Research, EarlyView.
Objective To explore whether higher body fat and lower lean mass are associated with greater pain and worse patient‐reported physical function in individuals with hip osteoarthritis (OA). A secondary aim was to examine whether pain and patient‐reported physical function differ according to four body composition profiles: high body fat, low lean mass ...
Alexandra Ryan   +10 more
wiley   +1 more source

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