Nesprin proteins: bridging nuclear envelope dynamics to muscular dysfunction [PDF]
Cell Communication and SignalingThis review presents a comprehensive exploration of the pivotal role played by the Linker of Nucleoskeleton and Cytoskeleton (LINC) complex, with a particular focus on Nesprin proteins, in cellular mechanics and the pathogenesis of muscular diseases ...
Zhou Zi-yi +4 more
doaj +2 more sources
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Frontiers in Cell and Developmental Biology, 2023 Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi Cesar +47 more
doaj +1 more source
Journal of Physiological Sciences, 2023 Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada +4 more
doaj +1 more source
Mathematics, 2022 Extended Dynamic Mode Decomposition (EDMD) allows an approximation of the Koopman operator to be derived in the form of a truncated (finite dimensional) linear operator in a lifted space of (nonlinear) observable functions.
Camilo Garcia-Tenorio +1 more
doaj +1 more source
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. [PDF]
PLoS Genetics, 2014 Proteins of the nuclear envelope (NE) are associated with a range of inherited disorders, most commonly involving muscular dystrophy and cardiomyopathy, as exemplified by Emery-Dreifuss muscular dystrophy (EDMD).
Peter Meinke +10 more
doaj +1 more source
The emerin-binding transcription factor Lmo7 is regulated by association with p130Cas at focal adhesions [PDF]
PeerJ, 2013 Loss of function mutations in the nuclear inner membrane protein, emerin, cause X-linked Emery-Dreifuss muscular dystrophy (X-EDMD). X-EDMD is characterized by contractures of major tendons, skeletal muscle weakening and wasting, and cardiac conduction ...
Michele A. Wozniak +3 more
doaj +2 more sources
Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations [PDF]
, 2005 Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins.
Bridger, JM +3 more
core +1 more source
The Pathogenesis and Therapies of Striated Muscle Laminopathies
Frontiers in Physiology, 2018 Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD and ...
Astrid Brull +5 more
doaj +1 more source
Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
Frontiers in Cardiovascular Medicine, 2021 Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction.
Tatiana Kovalchuk +18 more
doaj +1 more source
Hard-sphere melting and crystallization with event-chain Monte Carlo [PDF]
, 2015 We simulate crystallization and melting with local Monte Carlo (LMC), event-chain Monte Carlo (ECMC), and with event-driven molecular dynamics (EDMD) in systems with up to one million three-dimensional hard spheres. We illustrate that our implementations
1000080359760 +4 more
core +2 more sources