Results 31 to 40 of about 132 (72)
Transcriptomic time course of skeletal muscle disuse and rehabilitation in middle‐aged adults
Physiological Reports, Volume 13, Issue 15, August 2025.Abstract Disuse drives rapid muscle atrophy and metabolic dysfunction. This study aimed to characterize phenotypic and transcriptomic skeletal muscle changes in middle‐aged individuals during disuse and rehabilitation. Eleven healthy middle‐aged adults (6 males, 5 females; age; 57 ± 5 years) underwent 7 days of unilateral lower limb suspension (ULLS ...
Zachary D. Von Ruff +9 more
wiley +1 more source
Pregnancy, Volume 1, Issue 4, July 2025.Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani +4 more
wiley +1 more source
The Journal of Physiology, Volume 603, Issue 12, Page 3533-3550, 15 June 2025.Abstract figure legend Graphical representation of the main results. The cartoon indicates that, in the presence of TNNT1 variants, the thin filament is more compliant, and more easily activated leading to higher myofibre Ca2+ sensitivity and cellular hyper‐contractility.
Jenni Laitila +11 more
wiley +1 more source
The Journal of Physiology, Volume 603, Issue 9, Page 2655-2673, 1 May 2025.Abstract figure legend Human skeletal muscle proteome response was investigated after 10‐week resistance training (RT1) followed by 10‐week training cessation (i.e. detraining, DT), and finally, 10‐week retraining (RT2). Many of the proteins were reversed towards baseline after DT and increased again after RT2. These reversible proteins were especially
Juha J. Hulmi +9 more
wiley +1 more source
Physiological Reports, Volume 13, Issue 7, April 2025.Abstract Disuse muscle atrophy can result in downregulated gene expression vital to muscle integrity, yet the mechanisms driving this downregulation remain unclear. Epigenetic alterations regulate transcriptional potential, with repressive changes suppressing gene expression.
Junya Shimizu, Fuminori Kawano
wiley +1 more source
The Genetics of 241 Fetuses With Talipes Equinovarus: A 8‐Year Monocentric Retrospective Study
Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.Fetuses with talipes equinovarus (TE) is related to chromosome abnormalities, pathogenic or likely pathogenic copy number variants (CNVs) and monogenic diseases. Karyotyping, CMA, and WES could be offered. WES is recommended for both isolated and complex fetal TE.
Pingshan Pan +11 more
wiley +1 more source
RYR 1 Gene Mutation in Motor Neuron Disease: A 10‐Year Case Observation
Case Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Andreas Posa +2 more
wiley +1 more source
Scandinavian Journal of Medicine &Science in Sports, Volume 34, Issue 10, October 2024.ABSTRACT Skeletal muscle mass plays a pivotal role in metabolic function, but conditions such as bed rest or injury often render resistance training impractical. The beta2‐adrenergic receptor has been highlighted as a potential target to promote muscle hypertrophy and treat atrophic conditions. Here, we investigate the proteomic changes associated with
Søren Jessen +8 more
wiley +1 more source
Discovery of New Regulatory Proteins and Mechanisms in Muscle Biology and Disease [PDF]
, 2016 In an effort to discover new regulators of muscle function, we identified a novel muscle-specific protein, Klhl40. Genetic deletion of Klhl40 in mice results in a nemaline myopathy-like phenotype with disruption of sarcomere function causing neonatal ...
Garg, Ankit
core +1 more source
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
Clinical Genetics, Volume 105, Issue 6, Page 596-610, June 2024.Expanding the phenotypic and molecular spectrum in lethal arthrogryposis. Abstract Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence.
Gozde Tutku Turgut +15 more
wiley +1 more source