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Immunocytochemical detection of emerin within the nuclear matrix

Neuromuscular Disorders, 1997
Emerin, 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 and cardiomyopathy in Emery–Dreifuss muscular dystrophy

Neuromuscular Disorders, 1999
Emery-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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Isolation and characterization of the complete mouse emerin gene

Mammalian Genome, 1997
Emery-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
openaire   +2 more sources

Role of structural flexibility in the evolution of emerin

Journal of Theoretical Biology, 2015
Emerin is a short inner nuclear membrane protein with an LEM-domain at the N-terminal end and a transmembrane domain at the C-terminal end. The middle region of human emerin contains multiple binding motifs. Since emerin is often found in evolutionarily newer species, the functional conservation of emerin becomes an interesting topic. In this study, we
Jia, Yuan, Bin, Xue
openaire   +2 more sources

Emerin expression at the early stages of myogenic differentiation

Differentiation, 2000
Emerin 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
openaire   +3 more sources

Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein

Journal of Cell Science, 1999
ABSTRACT 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
openaire   +2 more sources

The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity

Nature, 2006
Primate lentiviruses such as human immunodeficiency type 1 (HIV-1) have the capacity to infect non-dividing cells such as tissue macrophages. In the process, viral complementary DNA traverses the nuclear envelope to integrate within chromatin. Given the intimate association between chromatin and the nuclear envelope, we examined whether HIV-1 ...
Jean-Marc, Jacque, Mario, Stevenson
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SSCP analysis of the emerin gene

Neuromuscular Disorders, 1996
Luisa Politano, Vincenzo Nigro
openaire   +1 more source

Emerin evaluation in Emery-Dreifuss muscular dystrophy patients

1997
The diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD) is now normally confirmed by genetic analysis of the recently discovered STA gene which codes for the protein emerin. This is a ubiquitous protein which decorates the nuclear rim of many cell types.
Di Blasi C   +10 more
openaire   +1 more source

Atrioventricular block in dilated cardiomyopathy and mutation in emerin gene

Medicina Clínica (English Edition), 2023
Néstor, Báez-Ferrer   +2 more
openaire   +2 more sources

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