Results 91 to 100 of about 99,848 (257)

Outcomes in progressive pulmonary fibrosis in systemic autoimmune rheumatic diseases: real‐world data from the ILD‐PRO Registry

open access: yesArthritis &Rheumatology, Accepted Article.
Objective We evaluated baseline characteristics, treatment patterns, and outcomes in patients with systemic autoimmune rheumatic disease‐associated progressive pulmonary fibrosis (SARD‐PPF) and evaluated whether outcomes differed by SARD subtype. Methods The ILD‐PRO Registry is a prospective multicenter US registry of patients with PPF.
Sonali J Bracken   +7 more
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

open access: yesCytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen   +3 more
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell   +3 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira   +3 more
wiley   +1 more source

Myopathy [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1936
openaire   +2 more sources

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard   +3 more
wiley   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai   +2 more
wiley   +1 more source

Practical Assessment of Spaghetti Breast in Diverse Genetic Strain Broilers Reared under Different Environments

open access: yesBrazilian Journal of Poultry Science
Brazilian processing plants have identified the so-calledspaghetti breast myopathy characterized by muscular dystrophy of unknown etiology. This study aimed at estimating the incidence of spaghetti breast myopathyin broilers from three commercial genetic
FS Montagna   +4 more
doaj   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia   +2 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

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