Results 91 to 100 of about 21,845 (197)
Cardioprotective hormone relaxin‐2 showed relevant effects on rat skeletal muscle by altering proteins linked to muscle function, regeneration, differentiation, mitochondrial function, glucose metabolism, and structural integrity and organization. Specifically, relaxin‐2 reduced the expression of 95 proteins, increased 32, and elicited unique proteins ...
Xocas Vázquez‐Abuín +11 more
wiley +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
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
Investigating the Role of Type I Interferon Signaling on Muscle Disease Using Mouse Models
Objective Dysregulated type I interferon (IFN) signaling contributes to autoimmune myositis pathogenesis. We investigated the therapeutic effects of JAK inhibitors in two mouse models. We also examined how type I IFNs affect muscle vasculature. Methods Myositis was induced in major histocompatibility complex class I double transgenic ([TRE‐H‐2Kb (H ...
Rita Spathis +11 more
wiley +1 more source
Dorso‐Ventral and Night‐Day Regulation of Extracellular K+ Dynamics in Mouse Hippocampal Astrocytes
Hippocampal astrocytic K+ buffering varies by region and time. Ventral astrocytes show faster K+ accumulation due to reduced Kir4.1 function. Such regional divergence is modulated by circadian shifts in Kir4.1 and gap junction coupling. ABSTRACT Astrocytes regulate extracellular potassium (K+) through multiple mechanisms operating across distinct ...
Nariman Kiani +5 more
wiley +1 more source
Strategies and mechanisms of precision genome engineering: From gene editing to genome writing
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang +19 more
wiley +1 more source
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud +12 more
wiley +1 more source
Ubiquitous cell‐associated, cytoplasmic, synaptic and extracellular matrix HS‐proteoglycans are multifunctional regulators of tissue form and function. HS‐proteoglycans have diverse functions as growth factor co‐receptors in cell proliferation, differentiation, tissue development, mechanical stabilization, synaptogenesis, synaptic plasticity, and ...
James Melrose
wiley +1 more source
Utrophin Compensates dystrophin Loss during Mouse Spermatogenesis
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder resulting from mutations in the dystrophin gene. The mdx/utrn −/− mouse, lacking in both dystrophin and its autosomal homologue utrophin, is commonly used to model the clinical symptoms of
Hung-Chih Chen +6 more
doaj +1 more source
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source

