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Isolation and characterization of the complete mouse emerin gene
Mammalian Genome, 1997Emery-Dreifuss muscular dystrophy (EMD) is an X-linked recessive disorder associated with muscle wasting, contractures, and cardiomyopathy. The responsible emerin gene has recently been identified and found to encode a serine-rich protein similar to lamina-associated protein 2 (LAP2), although the disease mechanism remains obscure.
K, Small, M, Wagener, S T, Warren
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Immunocytochemical detection of emerin within the nuclear matrix
Neuromuscular Disorders, 1997Emerin, the protein whose production is altered in the X-linked form of Emery-Dreifuss muscular distrophy, has been hypothesized to be associated with the nuclear matrix on the basis of biochemical studies. In addition, immunocytochemical data reported its localization at the nuclear periphery, on the nuclear lamina, in sections of several normal ...
S, Squarzoni +8 more
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Emerin expression at the early stages of myogenic differentiation
Differentiation, 2000Emerin is an ubiquitous protein localized at the nuclear membrane of most cell types including muscle cells. The protein is absent in most patients affected by the X-linked form of Emery-Dreifuss muscular dystrophy, a disease characterized by slowly progressive muscle wasting and weakness, early contractures of the elbows, Achilles tendons, and post ...
G. Lattanzi +10 more
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Emerin and cardiomyopathy in Emery–Dreifuss muscular dystrophy
Neuromuscular Disorders, 1999Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder characterized by the clinical triad of life-threatening progressive cardiomyopathy with conduction defect, early onset joint contractures and slow progressive muscle weakness in scapulo-humero-peroneal distribution.
M, Funakoshi, Y, Tsuchiya, K, Arahata
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BAF is required for emerin assembly into the reforming nuclear envelope
Journal of Cell Science, 2001Mutations in emerin cause the X-linked recessive form of Emery-Dreifuss muscular dystrophy (EDMD). Emerin localizes at the inner membrane of the nuclear envelope (NE) during interphase, and diffuses into the ER when the NE disassembles during mitosis. We analyzed the recruitment of wildtype and mutant GFP-tagged emerin proteins during nuclear envelope ...
T, Haraguchi +7 more
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Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein
Journal of Cell Science, 1999ABSTRACT Emerin is an integral protein of the inner nuclear membrane that is mutated or not expressed in patients with Emery-Dreifuss muscular dystrophy. Confocal immunofluorescence microscopy studies of the intracellular targeting of truncated forms of emerin, some of which are found in patients with Emery-Dreifuss muscular dystrophy ...
C, Ostlund +4 more
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The Role of HOP in Emerin-Mediated Nuclear Structure
2021A vital component of the integral nuclear membrane is emerin, a Lamin Emerin and Man1 (LEM) domain protein whose concentration determines the levels of partner proteins that together constitute the structure of the nuclear envelope. Deficiencies in any of these proteins causes the failure of the structure and assembly and disassembly of the nuclear ...
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SSCP analysis of the emerin gene
Neuromuscular Disorders, 1996Luisa Politano, Vincenzo Nigro
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Atrioventricular block in dilated cardiomyopathy and mutation in emerin gene
Medicina Clínica (English Edition), 2023Néstor, Báez-Ferrer +2 more
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