Results 41 to 50 of about 6,268 (192)

Lamin A/C and emerin regulate MKL1/SRF activity by modulating actin dynamics [PDF]

, 2014
Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss Muscular Dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular ...
Ho, Chin Yee, Jaalouk, Diana E., Lammerding, Jan, Vartiainen, Maria K.   +3 more
core   +1 more source

Expression Profiling of Differentiating Emerin-Null Myogenic Progenitor Identifies Molecular Pathways Implicated in Their Impaired Differentiation

Cells, 2017
Mutations in the gene encoding emerin cause Emery-Dreifuss muscular dystrophy (EDMD), a disorder causing progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons.
Ashvin Iyer, Adam J. Koch, James M. Holaska   +2 more
doaj   +1 more source

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

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, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +1 more source

Mouse models of nesprin-related diseases [PDF]

, 2018
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope,
Akinrinade, Arsenovic, Attali, Baird, Banerjee, Baumann, Baye, Behrens, Can Zhou, Catherine M. Shanahan, Chen, Crisp, Derek T. Warren, Djinovic Carugo, Duong, Espigat-Georger, Fanin, Fridolfsson, Gimpel, González, Gough, Grady, Green, Gros-Louis, Guilluy, Haque, Haskell, Hockemeyer, Holt, Horn, Horn, Izumi, Johnson, Ketema, Ketema, Kosodo, Laquerriere, Lee, Lee, Li Rao, Lindeman, Luke, Mellad, Merrell, Mislow, Mitzner, Morgan, Morimoto, Neumann, Noreau, O'Roak, Olins, Ozaki, Puckelwartz, Puckelwartz, Qiuping Zhang, Rajgor, Rajgor, Razafsky, Razafsky, Razafsky, Razafsky, Razafsky, Rosenberg-Hasson, Roux, Shindo, Sosa, Sosa, Starr, Stierle, Stroud, Synofzik, Taniura, van Berlo, Voit, Warren, Warren, Wilhelmsen, Wilson, Winder, Wynshaw-Boris, Yang, Yu, Yu, Zhang, Zhang, Zhang, Zhang, Zhang, Zhang, Zhen, Zhong, Zhou, Zhou   +93 more
core   +1 more source

Emerin hooks centrosome to nucleus [PDF]

The Journal of Cell Biology, 2007
Cells lacking emerin, one of the proteins whose loss causes a form of muscular dystrophy, cannot hook their centrosome to the nucleus, show Salpingidou et al. The lost linkage might weaken contractile cells, including those diseased muscles. Figure 1 Centrosomes (arrowheads) stray from the nucleus if emerin is missing (bottom). Besides
openaire   +1 more source

Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]

, 2012
Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood.
Ahmad, Ferhaan, McDonough, Barbara Anne, Rajkumar, Revathi, Seidman, Christine Edry, Sembrat, John C   +4 more
core   +5 more sources

Emerin self‐assembly mechanism: role of the LEM domain [PDF]

The FEBS Journal, 2017
At the nuclear envelope, the inner nuclear membrane protein emerin contributes to the interface between the nucleoskeleton and the chromatin. Emerin is an essential actor of the nuclear response to a mechanical signal. Genetic defects in emerin cause Emery–Dreifuss muscular dystrophy. It was proposed that emerin oligomerization regulates nucleoskeleton
Samson, Camille, Celli, Florian, Hendriks, Kitty, Zinke, Maximilian, Essawy, Nada, Herrada, Isaline, Arteni, Ana‐andreea, Theillet, Francois-Xavier, Alpha‐bazin, Béatrice, Armengaud, J., Coirault, Catherine, Lange, Adam, Zinn‐Justin, Sophie   +12 more
openaire   +3 more sources

Lamin A/C and Emerin depletion impacts chromatin organization and dynamics in the interphase nucleus

BMC Molecular and Cell Biology, 2019
Background Nuclear lamins are type V intermediate filament proteins that maintain nuclear structure and function. Furthermore, Emerin - an interactor of Lamin A/C, facilitates crosstalk between the cytoskeleton and the nucleus as it also interacts with ...
Devika Ranade, Roopali Pradhan, Muhunden Jayakrishnan, Sushmitha Hegde, Kundan Sengupta   +4 more
doaj   +1 more source

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]

, 2004
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B, Mehan, Michael R, Ophoff, Roel A   +2 more
core   +2 more sources

Distribution of emerin during the cell cycle

European Journal of Cell Biology, 1999
Human emerin is a nuclear membrane protein that is lost or altered in patients with Emery-Dreifuss muscular dystrophy (EMD). While the protein is expressed in the majority of human tissues analyzed, the pathology predominates in cardiac and skeletal muscles of patients with EMD.
M C, Dabauvalle, E, Müller, A, Ewald, W, Kress, G, Krohne, C R, Müller   +5 more
openaire   +2 more sources