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http://dx.doi.org/10.1161/CIRCULATIONAHA.121.054015 | DOI Listing |
Cell Tissue Res
September 2025
Department of Life Sciences, Central University of Jharkhand, Cheri-Manatu Campus, Ranchi, Jharkhand, 835222, India.
The integrin-associated proteins (IAPs) function in a tightly regulated and coordinated manner to maintain the complex cytoarchitecture at the myotendinous junctions (MTJs) of Drosophila indirect flight muscles (IFMs). Parvin, a conserved but less explored IAP, forms a ternary complex with ILK and PINCH (the IPP complex). Although the IPP complex is functionally conserved, playing a central role in integrin-mediated adhesion, its individual components may also exert independent roles.
View Article and Find Full Text PDFClin Med Insights Cardiol
August 2025
Mount Sinai Fuster Heart Hospital, Icahn School of Medicine, New York, NY, USA.
Hypertrophic cardiomyopathy is a genetically inherited cardiac disorder that presents with diverse clinical phenotypes. It is associated with significant adverse outcomes, including arrhythmias and sudden cardiac death. Current gold-standard diagnostic methods include echocardiography and cardiac magnetic resonance imaging.
View Article and Find Full Text PDFGenes (Basel)
August 2025
Department of Geriatrics, Donald W. Reynolds Institute on Aging, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
Alternative splicing is an important mechanism of transcriptomic and proteomic diversity and is progressively involved in cardiovascular disease (CVD) pathogenesis. Serum response factor (SRF), a critical transcription factor in cardiac development and function, may itself undergo splicing regulation, potentially altering its function in disease states. The objective of this study is to identify SRF-associated alternative splicing events in cardiac pathological conditions and examine regulatory interactions with splicing factors using RNA-seq data.
View Article and Find Full Text PDFInt J Mol Sci
August 2025
Department of Anatomy, Cell Biology & Physiology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Muscle wasting and weakness are critical clinical problems that limit mobility and independence, reduce health span, and increase the risk of physical disability. The molecular basis for this has not been fully determined. Klotho expression is downregulated in conditions associated with muscle wasting, including aging, chronic kidney disease, and myopathy.
View Article and Find Full Text PDFInt J Mol Sci
August 2025
Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdansk, Poland.
Myopathies and muscular dystrophies are a diverse group of rare or ultra-rare diseases that significantly impact patients' quality of life and pose major challenges for diagnosis and treatment. Despite their heterogeneity, many share common molecular mechanisms, particularly involving sarcomeric dysfunction, impaired autophagy, and disrupted gene expression. This review explores the genetic and pathophysiological foundations of major myopathy subtypes, including cardiomyopathies, metabolic and mitochondrial myopathies, congenital and distal myopathies, myofibrillar myopathies, inflammatory myopathies, and muscular dystrophies.
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