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| http://dx.doi.org/10.1016/j.bjae.2023.05.004 | DOI Listing |
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Nucleosome repositioning in cardiac reprogramming.
PLoS One
January 2025
Mandel Center for Heart and Vascular Research, The Duke Cardiovascular Research Center, Duke University Medical Center, Durham, NC, United States of America.
Early events in the reprogramming of fibroblasts to cardiac muscle cells are unclear. While various histone undergo modification and re-positioning, and these correlate with the activity of certain genes, it is unknown if these events are causal or happen in response to reprogramming. Histone modification and re-positioning would be expected to open up chromatin on lineage-specific genes and this can be ascertained by studying nucleosome architecture.
View Article and Find Full Text PDFClinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
J Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.
J Neurol
January 2025
Department of Neurology, School of Medical Sciences, University of Campinas-UNICAMP, Universitaria "Zeferino Vaz", Rua Tessália Vieira de Camargo, 126. Cidade, Campinas, SP, 13083-887, Brazil.
Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.
Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.
Repeatability of radiomic features in myocardial T1 and T2 mapping.
Eur Radiol
January 2025
Institute of Diagnostic and Interventional Radiology, Pediatric Radiology and Neuroradiology, University Medical Centre Rostock, Rostock, Germany.
Purpose: To investigate the test-retest repeatability of radiomic features in myocardial native T1 and T2 mapping.
Methods: In this prospective study, 50 healthy volunteers (29 women and 21 men, mean age 39.4 ± 13.
Exploring the Connection: Moyamoya Disease and Its Implications for Cardiovascular Health.
Cardiol Rev
January 2025
Department of Internal Medicine, Milton S Hershey Medical Center, Hershey, PA.
Moyamoya disease (MMD) is a vascular disorder characterized by steno-occlusive alterations in cerebral arteries, often resulting in ischemic or hemorrhagic events predominantly affecting the female population and more common in Asian populations. Despite its predominantly neurological manifestations, recent research suggests a potential association between MMD and cardiovascular diseases (CVDs). MMD involves various genetic and environmental factors, with mutations in the RNF213 gene being strongly implicated in disease susceptibility, with histopathological findings revealing intimal lesions and smooth muscle proliferation, contributing to vascular occlusion as well as dysregulation of circulating endothelial and smooth muscle progenitor cells further complicating MMD's pathogenesis.
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